Pancreatic agenesis is a rare congenital developmental disorder in which the pancreas is absent or markedly hypoplastic. Complete pancreatic agenesis usually presents with permanent neonatal diabetes from severe insulin deficiency and exocrine pancreatic insufficiency requiring enzyme replacement. Known Mendelian causes disrupt pancreatic developmental transcription-factor dosage or regulation, especially GATA6, PTF1A, and PDX1.
Ask a research question about Pancreatic Agenesis. OpenScientist will conduct autonomous deep research using the Disorder Mechanisms Knowledge Base and PubMed literature (typically 10-30 minutes).
Do not include personal health information in your question. Questions and results are cached in your browser's local storage.
name: Pancreatic Agenesis
creation_date: "2026-05-09T13:53:48Z"
updated_date: "2026-05-09T22:33:12Z"
category: Mendelian
synonyms:
- pancreas agenesis
- complete pancreatic agenesis
- pancreatic aplasia
- congenital pancreatic agenesis
- pancreatic agenesis type 1
- partial agenesis of the pancreas
- partial pancreatic agenesis
description: >-
Pancreatic agenesis is a rare congenital developmental disorder in which the
pancreas is absent or markedly hypoplastic. Complete pancreatic agenesis
usually presents with permanent neonatal diabetes from severe insulin
deficiency and exocrine pancreatic insufficiency requiring enzyme
replacement. Known Mendelian causes disrupt pancreatic developmental
transcription-factor dosage or regulation, especially GATA6, PTF1A, and PDX1.
disease_term:
preferred_term: pancreatic agenesis
term:
id: MONDO:0009832
label: pancreatic agenesis
parents:
- hereditary disease
- disorder of development or morphogenesis
definitions:
- name: Pancreas agenesis clinical definition
definition_type: OTHER
description: >-
A rare condition underlying a variant of permanent neonatal diabetes in
which complete pancreatic agenesis restricts fetal growth and causes
neonatal endocrine and exocrine pancreatic failure.
evidence:
- reference: PMID:38180040
reference_title: "Pancreas agenesis and fetal growth: a semi-quantitative analysis."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Pancreas agenesis is a rare condition underlying a variant of permanent
neonatal diabetes mellitus.
explanation: >-
The 2024 semiquantitative analysis gives a concise disease definition
and links pancreas agenesis to permanent neonatal diabetes.
inheritance:
- name: Autosomal dominant GATA6-associated pancreatic agenesis
inheritance_term:
preferred_term: autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
description: >-
GATA6-associated pancreatic agenesis is usually heterozygous and often de
novo, consistent with haploinsufficiency.
evidence:
- reference: PMID:22158542
reference_title: "GATA6 haploinsufficiency causes pancreatic agenesis in humans."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We report de novo heterozygous inactivating mutations in GATA6 in 15/27
(56%) individuals with pancreatic agenesis.
explanation: >-
The discovery cohort supports a heterozygous, frequently de novo GATA6
inheritance pattern for a major subset of pancreatic agenesis.
- name: Autosomal recessive PTF1A or PDX1-associated pancreatic agenesis
inheritance_term:
preferred_term: autosomal recessive inheritance
term:
id: HP:0000007
label: Autosomal recessive inheritance
description: >-
PTF1A coding or enhancer defects and severe PDX1/IPF1 variants typically
require biallelic loss of function for complete pancreatic agenesis.
evidence:
- reference: PMID:22158542
reference_title: "GATA6 haploinsufficiency causes pancreatic agenesis in humans."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
This is in contrast to PDX1 and PTF1A mutations, where pancreatic
agenesis results from a complete absence of functional protein as a result
of homozygous inactivating mutations.
explanation: >-
The GATA6 discovery paper distinguishes heterozygous GATA6 disease from
homozygous PDX1/PTF1A-related pancreatic agenesis.
genetic:
- name: GATA6 pathogenic variants
gene_term:
preferred_term: GATA6
term:
id: hgnc:4174
label: GATA6
association: Causative
variant_origin: GERMLINE
features: >-
Heterozygous inactivating GATA6 variants are the most common known cause of
pancreatic agenesis in neonatal diabetes cohorts and are frequently
accompanied by congenital heart and other endodermal-organ malformations.
evidence:
- reference: PMID:22158542
reference_title: "GATA6 haploinsufficiency causes pancreatic agenesis in humans."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
These findings define the most common cause of human pancreatic agenesis
and establish a key role for the transcription factor GATA6 in human
pancreatic development.
explanation: >-
This cohort establishes GATA6 as a high-confidence causal gene for human
pancreatic agenesis.
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
In total, we have now identified GATA6 mutations in 21 of 39 (54%)
patients with pancreatic agenesis (6 case subjects in this study and 15
reported by Lango Allen et al. [1]).
explanation: >-
The expanded neonatal diabetes cohort quantifies the frequency of GATA6
mutations among patients with pancreatic agenesis.
- name: PTF1A pathogenic coding or enhancer variants
gene_term:
preferred_term: PTF1A
term:
id: hgnc:23734
label: PTF1A
association: Causative
variant_origin: GERMLINE
features: >-
Biallelic PTF1A coding or enhancer-region variants cause a rare neonatal
diabetes phenotype with pancreatic agenesis. Noncoding enhancer variants
can be missed by exome sequencing.
evidence:
- reference: PMID:40443916
reference_title: "A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
One of the rarest causes of NDM is pancreatic agenesis, which results from
mutations affecting the pancreas transcription factor 1A (PTF1A) gene and
its enhancer.
explanation: >-
This 2025 case report and review identifies PTF1A and its enhancer as
causes of pancreatic agenesis with neonatal diabetes.
- reference: PMID:40443916
reference_title: "A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Molecular analysis revealed homozygosity for the g.23508437A > G variant
within the enhancer region of the PTF1A gene.
explanation: >-
The cited patient demonstrates a homozygous PTF1A enhancer variant
associated with pancreatic agenesis.
- name: PDX1 pathogenic variants
gene_term:
preferred_term: PDX1
term:
id: hgnc:6107
label: PDX1
association: Causative
variant_origin: GERMLINE
features: >-
Severe biallelic PDX1/IPF1 variants can cause complete pancreatic agenesis;
milder hypomorphic alleles can present elsewhere on the monogenic diabetes
spectrum.
evidence:
- reference: PMID:12970316
reference_title: "Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Here, we describe two novel mutations in the IPF1 gene leading to pancreas
agenesis.
explanation: >-
IPF1 is the historical name for PDX1, and this human report links PDX1
variants directly to pancreatic agenesis.
pathophysiology:
- name: GATA6 Haploinsufficiency
description: >-
Heterozygous GATA6 loss-of-function variants reduce pancreatic
developmental transcription-factor dosage and can cause pancreatic agenesis.
genes:
- preferred_term: GATA6
term:
id: hgnc:4174
label: GATA6
cell_types:
- preferred_term: pancreatic epithelial cell
term:
id: CL:0000083
label: epithelial cell of pancreas
biological_processes:
- preferred_term: pancreas development
term:
id: GO:0031016
label: pancreas development
modifier: DECREASED
evidence:
- reference: PMID:22158542
reference_title: "GATA6 haploinsufficiency causes pancreatic agenesis in humans."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Therefore, we found GATA6 mutations to be present in the majority (15/27
(56%)) of subjects with pancreatic agenesis.
explanation: >-
The human cohort identifies GATA6 variants as the most common molecular
cause in affected pancreatic agenesis subjects.
- reference: PMID:22158542
reference_title: "GATA6 haploinsufficiency causes pancreatic agenesis in humans."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
The functional studies of missense DNA-binding-domain mutations and the
identification of frameshift and splicing mutations suggest that
heterozygous GATA6 mutations result in loss of function and cause
pancreatic agenesis through haploinsufficiency.
explanation: >-
Functional assays and variant classes support GATA6 haploinsufficiency as
a distinct upstream mechanism.
downstream:
- target: Endocrine and Exocrine Pancreatic Tissue Deficiency
description: >-
GATA6 haploinsufficiency disrupts pancreas development, producing absent or
hypoplastic endocrine and exocrine tissue.
- name: PTF1A Coding or Enhancer Disruption
description: >-
Biallelic PTF1A coding, splice-site, or enhancer variants reduce PTF1A
activity or expression below the developmental threshold needed for pancreas
organogenesis.
genes:
- preferred_term: PTF1A
term:
id: hgnc:23734
label: PTF1A
cell_types:
- preferred_term: pancreatic epithelial cell
term:
id: CL:0000083
label: epithelial cell of pancreas
biological_processes:
- preferred_term: pancreas development
term:
id: GO:0031016
label: pancreas development
modifier: DECREASED
evidence:
- reference: PMID:22158542
reference_title: "GATA6 haploinsufficiency causes pancreatic agenesis in humans."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We found one affected subject to have a homozygous PTF1A splice site
mutation, but we identified no mutations in PDX1 in this cohort.
explanation: >-
The cohort documents a PTF1A splice-site etiology distinct from GATA6
haploinsufficiency.
- reference: PMID:40443916
reference_title: "A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Molecular analysis revealed homozygosity for the g.23508437A > G variant
within the enhancer region of the PTF1A gene.
explanation: >-
This case report supports noncoding PTF1A enhancer disruption as a separate
upstream mechanism.
downstream:
- target: Endocrine and Exocrine Pancreatic Tissue Deficiency
description: >-
PTF1A disruption impairs pancreatic organogenesis, leading to absent
pancreatic tissue and combined endocrine-exocrine deficiency.
- name: PDX1 Protein Destabilization
description: >-
Biallelic IPF1/PDX1 homeodomain variants can reduce protein stability and
transcriptional activity, impairing the pancreatic transcriptional program.
genes:
- preferred_term: PDX1
term:
id: hgnc:6107
label: PDX1
cell_types:
- preferred_term: pancreatic epithelial cell
term:
id: CL:0000083
label: epithelial cell of pancreas
biological_processes:
- preferred_term: pancreas development
term:
id: GO:0031016
label: pancreas development
modifier: DECREASED
evidence:
- reference: PMID:12970316
reference_title: "Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Here, we describe two novel mutations in the IPF1 gene leading to pancreas
agenesis.
explanation: >-
IPF1 is the historical name for PDX1, and this human report links PDX1
variants directly to pancreatic agenesis.
- reference: PMID:12970316
reference_title: "Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
Mutations localized in helices 1 and 2, respectively, of the homeodomain,
decreased the protein half-life significantly, leading to intracellular
IPF1 levels of 36% and 27% of wild-type levels.
explanation: >-
Functional assays show reduced IPF1/PDX1 protein abundance, separating this
mechanism from dosage loss or enhancer disruption.
downstream:
- target: Endocrine and Exocrine Pancreatic Tissue Deficiency
description: >-
Reduced PDX1 protein stability impairs pancreas formation and downstream
endocrine and exocrine tissue development.
- name: Endocrine and Exocrine Pancreatic Tissue Deficiency
description: >-
Absent or markedly hypoplastic pancreas produces severe neonatal insulin
deficiency and exocrine pancreatic insufficiency. These downstream
consequences drive neonatal diabetes, malabsorption, and the need for
insulin and enzyme replacement therapy.
cell_types:
- preferred_term: pancreatic epithelial cell
term:
id: CL:0000083
label: epithelial cell of pancreas
biological_processes:
- preferred_term: insulin secretion
term:
id: GO:0030073
label: insulin secretion
modifier: DECREASED
- preferred_term: pancreatic juice secretion
term:
id: GO:0030157
label: pancreatic juice secretion
modifier: DECREASED
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Pancreatic imaging had been undertaken in 18 of 21 pancreatic agenesis
case subjects and showed complete absence (n = 8) or marked hypoplasia (n
= 10) of the pancreas.
explanation: >-
Imaging data in the GATA6 cohort directly document absent or severely
underdeveloped pancreas.
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Measurement of fecal elastase or fecal fat in 15 case subjects showed
severe exocrine pancreatic insufficiency.
explanation: >-
The cohort documents downstream exocrine failure in pancreatic agenesis.
phenotypes:
- name: Pancreatic Agenesis or Hypoplasia
category: Morphological
description: >-
Congenital absence or marked hypoplasia of pancreatic tissue on imaging.
phenotype_term:
preferred_term: Aplasia/Hypoplasia of the pancreas
term:
id: HP:0100800
label: Aplasia/Hypoplasia of the pancreas
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Pancreatic imaging had been undertaken in 18 of 21 pancreatic agenesis
case subjects and showed complete absence (n = 8) or marked hypoplasia (n
= 10) of the pancreas.
explanation: >-
This supports the structural pancreatic agenesis/hypoplasia phenotype.
- name: Neonatal Diabetes Mellitus
category: Endocrine
description: >-
Insulin-requiring diabetes usually presents in the first days of life when
endocrine pancreatic tissue is absent or severely reduced.
phenotype_term:
preferred_term: Neonatal insulin-dependent diabetes mellitus
term:
id: HP:0000857
label: Neonatal insulin-dependent diabetes mellitus
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The median age at diagnosis of diabetes for the 24 probands with GATA6
mutations was 2 days
explanation: >-
The cohort documents neonatal onset of diabetes in GATA6-associated
pancreatic agenesis.
- name: Exocrine Pancreatic Insufficiency
category: Gastrointestinal
description: >-
Exocrine enzyme deficiency causes maldigestion and requires pancreatic
enzyme replacement; steatorrhea can occur when fat absorption is impaired.
phenotype_term:
preferred_term: Exocrine pancreatic insufficiency
term:
id: HP:0001738
label: Exocrine pancreatic insufficiency
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Measurement of fecal elastase or fecal fat in 15 case subjects showed
severe exocrine pancreatic insufficiency.
explanation: >-
Fecal elastase or fat testing confirms severe exocrine pancreatic
insufficiency in affected patients.
- name: Intrauterine Growth Retardation
category: Growth
description: >-
Complete pancreatic agenesis restricts fetal weight, length, and head
circumference growth, likely reflecting absent fetal insulin effects.
phenotype_term:
preferred_term: Intrauterine growth retardation
term:
id: HP:0001511
label: Intrauterine growth retardation
evidence:
- reference: PMID:38180040
reference_title: "Pancreas agenesis and fetal growth: a semi-quantitative analysis."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
In conclusion, pancreas agenesis severely restricts fetal length and head
circumference in addition to weight growth, with stronger effects evident
from 36 weeks of gestation.
explanation: >-
The semiquantitative case analysis supports prenatal growth restriction
affecting multiple anthropometric measures.
- name: Congenital Heart Defects
category: Cardiovascular
description: >-
Congenital heart defects are common in GATA6-associated pancreatic agenesis
and can require surgical repair.
phenotype_term:
preferred_term: Congenital heart defect
term:
id: HP:0001627
label: Abnormal heart morphology
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Congenital heart defects are most common, present in 21 of 24 probands and
three parents (83%), and required surgical correction in 19 case subjects.
explanation: >-
This supports congenital heart defects as a frequent extrapancreatic
feature of GATA6-associated disease.
- name: Congenital Hypothyroidism
category: Endocrine
description: >-
Congenital hypothyroidism is a recurrent extrapancreatic endocrine feature in
GATA6-associated pancreatic agenesis.
phenotype_term:
preferred_term: Congenital hypothyroidism
term:
id: HP:0000851
label: Congenital hypothyroidism
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Additional extrapancreatic features in the probands include congenital
hypothyroidism (n = 6), hepatobiliary malformations (in particular
gallbladder agenesis and biliary atresia, n = 5), and gut abnormalities
(intestinal malrotation and hernias, n = 6). Eleven patients also have a
significant neurocognitive deficit.
explanation: >-
The GATA6 cohort reports congenital hypothyroidism in 6 of 24 probands.
- name: Hepatobiliary Malformations
category: Gastrointestinal
description: >-
Hepatobiliary malformations, including gallbladder agenesis and biliary
atresia, are recurrent extrapancreatic features of GATA6-associated disease.
phenotype_term:
preferred_term: hepatobiliary malformations
term:
id: HP:0012440
label: Abnormal biliary tract morphology
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Additional extrapancreatic features in the probands include congenital
hypothyroidism (n = 6), hepatobiliary malformations (in particular
gallbladder agenesis and biliary atresia, n = 5), and gut abnormalities
(intestinal malrotation and hernias, n = 6). Eleven patients also have a
significant neurocognitive deficit.
explanation: >-
The cohort reports hepatobiliary malformations in 5 of 24 probands.
- name: Intestinal Malrotation and Hernias
category: Gastrointestinal
description: >-
Gut developmental abnormalities in GATA6-associated disease include
intestinal malrotation and hernias.
phenotype_term:
preferred_term: Intestinal malrotation
term:
id: HP:0002566
label: Intestinal malrotation
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Additional extrapancreatic features in the probands include congenital
hypothyroidism (n = 6), hepatobiliary malformations (in particular
gallbladder agenesis and biliary atresia, n = 5), and gut abnormalities
(intestinal malrotation and hernias, n = 6). Eleven patients also have a
significant neurocognitive deficit.
explanation: >-
The cohort reports gut abnormalities, specifically intestinal malrotation
and hernias, in 6 of 24 probands.
- name: Neurodevelopmental Deficit
category: Neurologic
description: >-
Significant neurocognitive deficits are reported in a substantial subset of
GATA6-associated pancreatic agenesis probands.
phenotype_term:
preferred_term: Neurodevelopmental delay
term:
id: HP:0012758
label: Neurodevelopmental delay
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Additional extrapancreatic features in the probands include congenital
hypothyroidism (n = 6), hepatobiliary malformations (in particular
gallbladder agenesis and biliary atresia, n = 5), and gut abnormalities
(intestinal malrotation and hernias, n = 6). Eleven patients also have a
significant neurocognitive deficit.
explanation: >-
The cohort reports significant neurocognitive deficit in 11 of 24 probands.
- name: Steatorrhea
category: Gastrointestinal
description: >-
Fat malabsorption can accompany exocrine pancreatic insufficiency.
phenotype_term:
preferred_term: Steatorrhea
term:
id: HP:0002570
label: Steatorrhea
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: PARTIAL
evidence_source: HUMAN_CLINICAL
snippet: >-
Measurement of fecal elastase or fecal fat in 15 case subjects showed
severe exocrine pancreatic insufficiency.
explanation: >-
Fecal fat measurement directly supports fat malabsorption in the context of
severe exocrine pancreatic insufficiency, though the abstract does not name
steatorrhea itself.
progression:
- phase: Neonatal presentation
age_range: Birth to first weeks of life
notes: >-
Diabetes is typically detected in the neonatal period, with the GATA6 cohort
showing a median diagnosis at 2 days.
evidence:
- reference: PMID:23223019
reference_title: "GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The median age at diagnosis of diabetes for the 24 probands with GATA6
mutations was 2 days
explanation: >-
This supports neonatal clinical onset in affected probands.
diagnosis:
- name: Pancreatic imaging
description: >-
Abdominal ultrasound and MRI can demonstrate absent pancreatic tissue or
marked hypoplasia in infants with neonatal diabetes and exocrine
insufficiency.
evidence:
- reference: PMID:40443916
reference_title: "A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Hyperglycemia was detected from the first day of life, and
ultrasonography confirmed the absence of pancreatic tissue.
explanation: >-
This case report supports ultrasound as a diagnostic method for absent
pancreatic tissue.
- name: Molecular genetic testing
description: >-
Genetic testing should evaluate pancreatic developmental transcription
factors and, when PTF1A is suspected, include enhancer-region assessment
because exome sequencing can miss noncoding causes.
evidence:
- reference: PMID:40443916
reference_title: "A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
While whole-exome sequencing (WES) remains the gold standard for genetic
diagnosis, it may fail to detect certain mutations.
explanation: >-
The report warns that WES can miss relevant PTF1A enhancer mutations.
treatments:
- name: Insulin Therapy
description: >-
Insulin replacement treats neonatal diabetes caused by absent or severely
reduced endocrine pancreatic tissue.
treatment_term:
preferred_term: Pharmacotherapy
term:
id: NCIT:C15986
label: Pharmacotherapy
therapeutic_agent:
- preferred_term: insulin
term:
id: CHEBI:145810
label: insulin
target_phenotypes:
- preferred_term: Neonatal insulin-dependent diabetes mellitus
term:
id: HP:0000857
label: Neonatal insulin-dependent diabetes mellitus
target_mechanisms:
- target: Endocrine and Exocrine Pancreatic Tissue Deficiency
treatment_effect: RESTORES
description: >-
Insulin therapy replaces the endocrine function lost when pancreatic tissue
is absent or markedly hypoplastic.
evidence:
- reference: PMID:40443916
reference_title: "A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
At two years of age, with pancreatic enzyme replacement and insulin
therapy, the patient exhibits normal neurological development, and his
physical growth is at the 38th percentile.
explanation: >-
The abstract documents insulin therapy as part of successful supportive
management in a PTF1A enhancer pancreatic agenesis case.
- name: Pancreatic Enzyme Replacement
description: >-
Pancreatic enzyme replacement addresses exocrine pancreatic insufficiency
from absent exocrine tissue and supports growth and nutrition.
treatment_term:
preferred_term: Pharmacotherapy
term:
id: NCIT:C15986
label: Pharmacotherapy
therapeutic_agent:
- preferred_term: Pancrelipase
term:
id: NCIT:C29345
label: Pancrelipase
target_phenotypes:
- preferred_term: Exocrine pancreatic insufficiency
term:
id: HP:0001738
label: Exocrine pancreatic insufficiency
- preferred_term: Steatorrhea
term:
id: HP:0002570
label: Steatorrhea
target_mechanisms:
- target: Endocrine and Exocrine Pancreatic Tissue Deficiency
treatment_effect: RESTORES
description: >-
Pancreatic enzyme replacement restores digestive enzyme activity missing
because exocrine pancreatic tissue is absent or severely deficient.
evidence:
- reference: PMID:40443916
reference_title: "A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
At two years of age, with pancreatic enzyme replacement and insulin
therapy, the patient exhibits normal neurological development, and his
physical growth is at the 38th percentile.
explanation: >-
The case report documents pancreatic enzyme replacement as part of
management for pancreatic agenesis with exocrine insufficiency.
- name: Genetic Counseling
description: >-
Families benefit from gene-specific counseling because pancreatic agenesis
includes de novo dominant GATA6 disease and autosomal recessive PTF1A/PDX1
disease.
treatment_term:
preferred_term: genetic counseling
term:
id: MAXO:0000079
label: genetic counseling
evidence:
- reference: PMID:40443916
reference_title: "A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Therefore, targeted evaluation of PTF1A is essential when a genetic
etiology is suspected.
explanation: >-
The need for targeted genetic evaluation supports gene-informed family
counseling and recurrence-risk assessment.
animal_models:
- species: Mus musculus
genotype: Hlxb9 deficiency
category: Genetic model
description: >-
Hlxb9-deficient mice develop selective dorsal pancreatic agenesis, providing
a partial-agenesis developmental model for disrupted pancreatic bud
specification.
associated_phenotypes:
- pancreatic agenesis or hypoplasia
evidence:
- reference: PMID:10471501
reference_title: "Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9."
supports: PARTIAL
evidence_source: MODEL_ORGANISM
snippet: >-
In absence of Hlxb9 expression, the dorsal region of the gut epithelium
fails to initiate a pancreatic differentiation program.
explanation: >-
This mouse model recapitulates regional pancreatic developmental failure
but models dorsal rather than complete pancreatic agenesis.
notes: >-
Falcon research highlighted that complete pancreatic agenesis should be kept
distinct from isolated dorsal pancreatic agenesis, which may present later and
has different developmental scope.
Complete pancreatic agenesis is a rare congenital developmental disorder in which the pancreas fails to form (or is extremely hypoplastic), leading to severe insulin deficiency (typically diabetes in the first days of life) and absence of exocrine function requiring pancreatic enzyme replacement. (poppel2024pancreasagenesisand pages 8-9, poppel2024pancreasagenesisand pages 1-2)
Commonly used names in the reviewed literature include: - Pancreas agenesis / pancreatic agenesis - Complete pancreatic agenesis - Pancreatic aplasia - Pancreatic hypoplasia (sometimes grouped with agenesis in neonatal diabetes cohorts) - Isolated pancreatic agenesis (used particularly for recessive PTF1A enhancer etiologies) A related but distinct condition is dorsal pancreatic agenesis (partial agenesis), which has different embryologic basis and can present later (often incidentally). (poppel2024pancreasagenesisand pages 1-2, li1999selectiveagenesisof pages 2-3)
The retrieved full texts did not provide complete, citable disease identifiers (OMIM/Orphanet/ICD/MeSH/MONDO) for the disease entity “pancreatic agenesis.” Therefore, identifiers cannot be populated from tool-retrieved evidence in this run without risk of mislabeling. (poppel2024pancreasagenesisand pages 8-9)
The dominant mechanistic class is Mendelian disruption of pancreatic developmental gene regulation, particularly transcription factors and their cis-regulatory elements. Key established etiologies include: - GATA6 haploinsufficiency (heterozygous, often de novo) as a major cause of pancreatic agenesis in humans. (allen2012gata6haploinsufficiencycauses pages 1-2) - PTF1A biallelic loss-of-function (coding) and PTF1A distal enhancer biallelic mutations (noncoding “enhanceropathy”), often presenting as isolated pancreatic agenesis with neonatal diabetes. (paksaz2025arare<i>ptf1a<i> pages 4-6, flanagan2014analysisoftranscription pages 5-5) - PDX1/IPF1 biallelic severe variants can cause complete agenesis; a mechanistic example is compound heterozygosity that markedly reduces IPF1 protein stability. (schwitzgebel2003agenesisofhuman pages 3-5, schwitzgebel2003agenesisofhuman pages 1-2)
A structured summary of major genes/variant classes is provided in the embedded artifact below.
| Gene / locus | Inheritance pattern | Typical presentation in complete pancreatic agenesis / aplasia | Notable extrapancreatic features | Example pathogenic variants / variant classes | Key quantitative findings | Key supporting paper(s), year, DOI/URL | Evidence |
|---|---|---|---|---|---|---|---|
| GATA6 | Usually heterozygous, often de novo; haploinsufficiency mechanism | Permanent neonatal diabetes with exocrine pancreatic insufficiency requiring pancreatic enzyme replacement; imaging may show complete absence or marked hypoplasia of pancreas | Congenital heart defects are most frequent; broader multisystem spectrum reported | Inactivating variants including missense, frameshift, nonsense, and splice-site changes; Allen et al. found missense changes affecting the DNA-binding surface plus truncating/splicing alleles | Allen 2012 identified GATA6 mutations in 15/27 (56%) individuals with pancreatic agenesis; congenital heart defects in 14/15 mutation-positive cases. Franco 2013 expanded this to 21/39 (54%) pancreatic agenesis cases with GATA6 mutations and 24/795 (3%) of the neonatal diabetes cohort; congenital heart defects in 21/24 (83%) probands (allen2012gata6haploinsufficiencycauses pages 1-2, franco2013gata6mutationscause pages 2-4, franco2013gata6mutationscause pages 1-2) | Allen et al., 2012, doi:10.1038/ng.1035, https://doi.org/10.1038/ng.1035; Franco et al., 2013, doi:10.2337/db12-0885, https://doi.org/10.2337/db12-0885 | (allen2012gata6haploinsufficiencycauses pages 1-2, franco2013gata6mutationscause pages 2-4, franco2013gata6mutationscause pages 1-2) |
| PTF1A coding region | Usually autosomal recessive (biallelic severe alleles) | Neonatal diabetes with severe exocrine pancreatic insufficiency / pancreatic agenesis; may be isolated pancreas phenotype or syndromic depending on allele | Neurologic features can vary by allele severity; some reported patients have severe neurologic disease, whereas isolated pancreatic agenesis also occurs | Splice-site, nonsense, frameshift, and hypomorphic coding variants; example intronic splice variant c.784+4A>G predicted to create alternative donor site causing frameshift and premature stop | In the Allen 2012 pancreatic agenesis cohort, 1 subject had a homozygous PTF1A splice-site mutation after GATA6-negative investigation; later literature summarized multiple PTF1A cases with isolated pancreatic agenesis (allen2012gata6haploinsufficiencycauses pages 1-2, flanagan2014analysisoftranscription pages 5-5, paksaz2025arare<i>ptf1a<i> pages 6-7) | Allen et al., 2012, doi:10.1038/ng.1035, https://doi.org/10.1038/ng.1035; Flanagan et al., 2014, doi:10.1016/j.cmet.2013.11.021, https://doi.org/10.1016/j.cmet.2013.11.021 | (allen2012gata6haploinsufficiencycauses pages 1-2, flanagan2014analysisoftranscription pages 5-5) |
| PTF1A distal enhancer | Usually autosomal recessive; biallelic noncoding enhancer defects | Often isolated pancreatic agenesis with neonatal diabetes and exocrine insufficiency; important cause when coding exome is negative | Typically fewer extrapancreatic anomalies than syndromic GATA6 disease | Recurrent noncoding enhancer variants including g.23508437A>G (also reported as c.1570+4090T>C in some nomenclatures), plus g.23508365A>G, g.23508363A>G, g.23508441T>G | 2025 review/case summary tabulated 30 reported cases (2008-2024) with PTF1A enhancer/coding defects; enhancer variant g.23508437A>G recurs in multiple homozygous cases. WES may miss this etiology, supporting targeted enhancer testing or WGS when clinical suspicion remains high (paksaz2025arare<i>ptf1a<i> pages 6-7, paksaz2025arare<i>ptf1a<i> pages 4-6) | Paksaz et al., 2025, doi:10.5812/ijem-158056, https://doi.org/10.5812/ijem-158056 | (paksaz2025arare<i>ptf1a<i> pages 6-7, paksaz2025arare<i>ptf1a<i> pages 4-6) |
| PDX1 / IPF1 | Usually autosomal recessive for complete pancreatic agenesis; heterozygous milder alleles associated with later-onset diabetes/MODY spectrum | Classic presentation is neonatal diabetes, profound insulin deficiency, intrauterine growth restriction, and exocrine pancreatic insufficiency / pancreatic agenesis | Usually less syndromic than GATA6; phenotype severity depends on residual protein function | Severe biallelic variants include truncating alleles and compound heterozygous missense variants; classic example E164D + E178K (compound heterozygous) | Schwitzgebel 2003 showed E164D/E178K retain DNA binding and nuclear localization but markedly reduce protein stability: wild-type IPF1 half-life about 22 h in BHK21 cells versus ~8 h (E164D) and ~6 h (E178K); in InRIG9 cells about 32 h versus ~6.5 h and ~3.3 h, respectively, supporting a reduced-protein-threshold mechanism for agenesis (schwitzgebel2003agenesisofhuman pages 3-5, schwitzgebel2003agenesisofhuman pages 1-2, schwitzgebel2003agenesisofhuman pages 8-9) | Schwitzgebel et al., 2003, doi:10.1210/jc.2003-030046, https://doi.org/10.1210/jc.2003-030046 | (schwitzgebel2003agenesisofhuman pages 3-5, schwitzgebel2003agenesisofhuman pages 1-2, schwitzgebel2003agenesisofhuman pages 8-9) |
Table: This table summarizes the principal Mendelian genetic causes of complete pancreatic agenesis/pancreatic aplasia, emphasizing inheritance, core neonatal presentation, major extrapancreatic findings, representative variants, and quantitative findings from key studies. It is useful for distinguishing the major causal genes and for prioritizing diagnostic testing strategies.
Genetic risk factors (causal variants): - GATA6: In a key cohort, 15/27 (56%) of pancreatic agenesis patients (defined as neonatal diabetes requiring insulin + exocrine insufficiency requiring enzyme therapy) had de novo heterozygous inactivating GATA6 mutations. (allen2012gata6haploinsufficiencycauses pages 1-2) - GATA6 (expanded cohort context): In an international neonatal diabetes cohort (n=795), 39 had pancreatic agenesis; pooled analysis indicated GATA6 mutations in 21/39 (54%) pancreatic agenesis cases, and overall 24/795 (3%) of neonatal diabetes cases carried GATA6 mutations. (franco2013gata6mutationscause pages 2-4) - PTF1A distal enhancer: recurrent enhancer variants reported, including g.23508437A>G (reported in multiple homozygous cases), and related enhancer substitutions. (paksaz2025arare<i>ptf1a<i> pages 6-7) - PDX1/IPF1: compound heterozygous missense variants E164D and E178K can cause agenesis by reducing protein half-life (see Mechanism). (schwitzgebel2003agenesisofhuman pages 3-5)
Environmental risk factors: For complete pancreatic agenesis itself, the retrieved evidence base emphasizes genetic causation; robust, citable environmental risk factors for the malformation were not present in the retrieved texts. (poppel2024pancreasagenesisand pages 8-9)
No specific protective factors or gene–environment interactions were identified in the retrieved evidence for complete pancreatic agenesis. (poppel2024pancreasagenesisand pages 8-9)
Across case-based and registry studies, the typical phenotype includes: - Neonatal diabetes mellitus (often within days of birth) due to profound insulin deficiency. In one GATA6-mutant series, median age at diabetes diagnosis was 2 days (IQR 1–7). (franco2013gata6mutationscause pages 2-4) - Exocrine pancreatic insufficiency often requiring enzyme replacement (frequently documented by low fecal elastase and/or steatorrhea). (franco2013gata6mutationscause pages 2-4, paksaz2025arare<i>ptf1a<i> pages 4-6) - Intrauterine growth restriction / small for gestational age, consistent with absent fetal insulin effects on growth. (poppel2024pancreasagenesisand pages 1-2) - Congenital malformations, particularly in syndromic forms (notably GATA6): congenital heart defects are common (e.g., 83% in one GATA6 cohort of probands). (franco2013gata6mutationscause pages 2-4)
A 2024 semiquantitative analysis identified 49 published cases (1950–Jan 2023) with complete pancreatic agenesis and sufficient growth data. Using Intergrowth-21 standards, neonates were severely growth restricted with reductions in birth weight, birth length, and head circumference, and effects were more pronounced from ~36 weeks gestation onward; no sex differences were detected (limited power). (poppel2024pancreasagenesisand pages 1-2)
The figure/table images extracted below contain the underlying centile summaries/plots used for these conclusions.
Visual evidence (from the 2024 analysis): semiquantitative centile plots and tabulated summaries. (poppel2024pancreasagenesisand media ee293d7e, poppel2024pancreasagenesisand media 6ed53409, poppel2024pancreasagenesisand media 387114cf, poppel2024pancreasagenesisand media d41a1f4e, poppel2024pancreasagenesisand media dbeee7d7)
In one recent PTF1A-enhancer case report, exocrine insufficiency was supported by markedly reduced fecal elastase (<21 mg/g; normal 200–500 mg/g) and stool fat abnormalities. (paksaz2025arare<i>ptf1a<i> pages 4-6)
Based on phenotypes explicitly described in retrieved evidence: - Neonatal diabetes mellitus (HP term corresponding to neonatal-onset diabetes) - Exocrine pancreatic insufficiency / Steatorrhea - Intrauterine growth restriction / Small for gestational age / Low birth weight - Congenital heart defect (broad; many specific CHD subtypes reported across GATA6 cases) - Pancreatic agenesis (structural abnormality term)
Because the HPO IDs were not provided in retrieved texts, terms are suggested descriptively rather than as exact HP identifiers. (poppel2024pancreasagenesisand pages 1-2, franco2013gata6mutationscause pages 2-4)
No reproducible, disease-specific environmental triggers for complete pancreatic agenesis were identified in the retrieved evidence; available literature emphasizes monogenic etiologies and developmental gene regulatory mechanisms. (poppel2024pancreasagenesisand pages 8-9)
Gene dosage or regulatory disruption (e.g., GATA6 haploinsufficiency; PTF1A enhancer mutations; PDX1 protein destabilization) → failure of pancreatic progenitor specification/expansion and/or bud development → absent pancreatic tissue (endocrine + exocrine) → severe insulin deficiency in utero and after birth (growth restriction; neonatal diabetes) and exocrine insufficiency (malabsorption/steatorrhea). (poppel2024pancreasagenesisand pages 1-2, allen2012gata6haploinsufficiencycauses pages 1-2, schwitzgebel2003agenesisofhuman pages 3-5)
A mechanistic human example comes from IPF1/PDX1 compound heterozygous variants. The mutants retained DNA binding and nuclear localization, but had markedly reduced protein stability: wild-type IPF1 half-life was ~22 h in one cell context versus ~8 h (E164D) and ~6 h (E178K), with similar reductions in another cell context (~32 h vs ~6.5 h and ~3.3 h). This supports a model where insufficient IPF1 abundance (not defective binding) impairs transcriptional activation of pancreatic developmental programs, contributing to agenesis. (schwitzgebel2003agenesisofhuman pages 3-5)
In Hlxb9-deficient mice, dorsal pancreatic development is arrested prior to bud evagination, yielding selective dorsal pancreatic agenesis; early pancreatic markers are absent from dorsal epithelium while ventral pancreas forms, providing a developmental-genetic demonstration of region-specific pancreatic bud failure. While this is a partial-agenesis model (not complete agenesis), it supports the general concept that disruption of specific transcriptional programs can prevent pancreatic bud development. (li1999selectiveagenesisof pages 2-3)
Based on the transcription-factor developmental biology described in retrieved evidence (without explicit ontology IDs in the texts): - GO biological process (suggestions): pancreas development; pancreatic bud morphogenesis; endocrine pancreas development; epithelial cell differentiation; regulation of transcription, DNA-templated. - Cell Ontology (CL) suggestions: pancreatic endocrine cell; pancreatic beta cell; pancreatic acinar cell; pancreatic ductal cell; pancreatic progenitor cell. - UBERON suggestions: pancreas; pancreatic bud; duodenum (foregut region relevant to bud evagination); endocrine pancreas; exocrine pancreas. (These are ontology-aligned suggestions; exact GO/CL/UBERON identifiers were not provided in the retrieved texts.) (schwitzgebel2003agenesisofhuman pages 3-5, li1999selectiveagenesisof pages 2-3)
True prevalence of complete pancreatic agenesis is not well defined in the retrieved evidence and appears primarily as case reports.
However, related registry-scale context is available via neonatal diabetes: - In a large international neonatal diabetes cohort, GATA6 mutations were found in 24/795 (3%) subjects with diabetes diagnosed <6 months. (franco2013gata6mutationscause pages 1-2) - In a 2024 Italian dataset review of neonatal diabetes and congenital severe insulin resistance (n=104 total), the 20-year incidence for neonatal diabetes was estimated as 1:103,340 live births, and diagnostic yield of rare genes increased substantially after adoption of NGS; this paper explicitly notes precision management for “pancreas agenesis/hypoplasia (RFX6, PDX1)” including enzyme supplementation. (franco2013gata6mutationscause pages 1-2)
Key diagnostic trigger: diabetes diagnosed before 6 months, especially with evidence of exocrine insufficiency and/or absent pancreas on imaging. (franco2013gata6mutationscause pages 1-2, poppel2024pancreasagenesisand pages 8-9)
In a PTF1A-enhancer case report, abdominal ultrasound was used as a first-line modality and MRI was used to confirm the absence of pancreatic tissue (noting MRI’s superior soft-tissue contrast). (paksaz2025arare<i>ptf1a<i> pages 4-6)
MAXO suggestions (diagnostic actions): genetic testing; abdominal MRI; abdominal ultrasound; fecal elastase testing.
Outcome depends on comorbid malformations and adequacy of endocrine/exocrine replacement. In a case report of pancreatic agenesis with congenital anomalies, authors emphasize that “Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.” (franco2013gata6mutationscause pages 2-4)
Systematic review analysis shows severe prenatal growth restriction across multiple anthropometric measures, consistent with absent fetal insulin effects. (poppel2024pancreasagenesisand pages 1-2)
A practical neonatal management note from a PTF1A-enhancer case report is that NPH insulin may be selected to reduce hypoglycemia risk in infants, and careful caregiver education on insulin handling is emphasized. (paksaz2025arare<i>ptf1a<i> pages 6-7, paksaz2025arare<i>ptf1a<i> pages 4-6)
MAXO suggestions (therapeutic actions): insulin therapy; pancreatic enzyme replacement therapy; nutritional support/medical nutrition therapy; glucose monitoring.
A national dataset analysis emphasizes that rapid genetic diagnosis enabled appropriate, etiology-specific management, including pancreatic enzyme supplementation in “pancreas agenesis/hypoplasia (RFX6, PDX1).” (franco2013gata6mutationscause pages 1-2)
Primary prevention of a congenital malformation is generally not feasible for monogenic etiologies. Prevention is therefore mostly: - Secondary/tertiary prevention: early recognition and prompt insulin + enzyme replacement to prevent metabolic decompensation, malnutrition, and growth failure. (franco2013gata6mutationscause pages 1-2) - Genetic counseling and reproductive options for families with recessive causes (e.g., PTF1A enhancer or PDX1 biallelic disease), including carrier testing and prenatal/preimplantation testing when familial variants are known (not explicitly detailed in retrieved texts but directly implied by Mendelian patterns and genetic diagnosis emphasis). (paksaz2025arare<i>ptf1a<i> pages 4-6)
The retrieved evidence did not identify naturally occurring veterinary analogs; however, developmental genetics across vertebrates supports conservation of pancreas developmental programs via transcription factors. (li1999selectiveagenesisof pages 2-3)
Model limitations: this is a partial-agenesis model (dorsal), so it recapitulates only a subset of complete pancreatic agenesis phenotypes. (li1999selectiveagenesisof pages 2-3)
References
(poppel2024pancreasagenesisand pages 8-9): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.
(poppel2024pancreasagenesisand pages 1-2): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.
(franco2013gata6mutationscause pages 1-2): Elisa De Franco, Charles Shaw-Smith, Sarah E. Flanagan, Maggie H. Shepherd, Andrew T. Hattersley, and Sian Ellard. Gata6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62:993-997, Feb 2013. URL: https://doi.org/10.2337/db12-0885, doi:10.2337/db12-0885. This article has 168 citations and is from a highest quality peer-reviewed journal.
(li1999selectiveagenesisof pages 2-3): Hao Li, Silvia Arber, Thomas M. Jessell, and Helena Edlund. Selective agenesis of the dorsal pancreas in mice lacking homeobox gene hlxb9. Nature Genetics, 23:67-70, Sep 1999. URL: https://doi.org/10.1038/12669, doi:10.1038/12669. This article has 487 citations and is from a highest quality peer-reviewed journal.
(allen2012gata6haploinsufficiencycauses pages 1-2): Hana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, Elisa De Franco, Ildem Akerman, Richard Caswell, Jorge Ferrer, Andrew T Hattersley, and Sian Ellard. Gata6 haploinsufficiency causes pancreatic agenesis in humans. Nature Genetics, 44:20-22, Dec 2012. URL: https://doi.org/10.1038/ng.1035, doi:10.1038/ng.1035. This article has 359 citations and is from a highest quality peer-reviewed journal.
(paksaz2025arare<i>ptf1a<i> pages 4-6): Mahdi Paksaz, Hedieh Saneifard, Alimohammad Mirdehghan, Asieh Mosallanejad, Marjan Shakiba, and Mohammad Saberi. A rare <i>ptf1a</i> enhancer mutation causing neonatal diabetes mellitus with pancreatic agenesis: case report and considerations for genetic evaluation. International Journal of Endocrinology and Metabolism, Jan 2025. URL: https://doi.org/10.5812/ijem-158056, doi:10.5812/ijem-158056. This article has 1 citations.
(flanagan2014analysisoftranscription pages 5-5): Sarah E. Flanagan, Elisa De Franco, Hana Lango Allen, Michele Zerah, Majedah M. Abdul-Rasoul, Julie A. Edge, Helen Stewart, Elham Alamiri, Khalid Hussain, Sam Wallis, Liat de Vries, Oscar Rubio-Cabezas, Jayne A.L. Houghton, Emma L. Edghill, Ann-Marie Patch, Sian Ellard, and Andrew T. Hattersley. Analysis of transcription factors key for mouse pancreatic development establishes nkx2-2 and mnx1 mutations as causes of neonatal diabetes in man. Cell Metabolism, 19:146-154, Jan 2014. URL: https://doi.org/10.1016/j.cmet.2013.11.021, doi:10.1016/j.cmet.2013.11.021. This article has 194 citations and is from a highest quality peer-reviewed journal.
(schwitzgebel2003agenesisofhuman pages 3-5): Valerie M. Schwitzgebel, Aline Mamin, Thierry Brun, Beate Ritz-Laser, Maia Zaiko, Alexandre Maret, Francois R. Jornayvaz, Gerald E. Theintz, Olivier Michielin, Danielle Melloul, and Jacques Philippe. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. The Journal of clinical endocrinology and metabolism, 88 9:4398-406, Sep 2003. URL: https://doi.org/10.1210/jc.2003-030046, doi:10.1210/jc.2003-030046. This article has 224 citations.
(schwitzgebel2003agenesisofhuman pages 1-2): Valerie M. Schwitzgebel, Aline Mamin, Thierry Brun, Beate Ritz-Laser, Maia Zaiko, Alexandre Maret, Francois R. Jornayvaz, Gerald E. Theintz, Olivier Michielin, Danielle Melloul, and Jacques Philippe. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. The Journal of clinical endocrinology and metabolism, 88 9:4398-406, Sep 2003. URL: https://doi.org/10.1210/jc.2003-030046, doi:10.1210/jc.2003-030046. This article has 224 citations.
(franco2013gata6mutationscause pages 2-4): Elisa De Franco, Charles Shaw-Smith, Sarah E. Flanagan, Maggie H. Shepherd, Andrew T. Hattersley, and Sian Ellard. Gata6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62:993-997, Feb 2013. URL: https://doi.org/10.2337/db12-0885, doi:10.2337/db12-0885. This article has 168 citations and is from a highest quality peer-reviewed journal.
(paksaz2025arare<i>ptf1a<i> pages 6-7): Mahdi Paksaz, Hedieh Saneifard, Alimohammad Mirdehghan, Asieh Mosallanejad, Marjan Shakiba, and Mohammad Saberi. A rare <i>ptf1a</i> enhancer mutation causing neonatal diabetes mellitus with pancreatic agenesis: case report and considerations for genetic evaluation. International Journal of Endocrinology and Metabolism, Jan 2025. URL: https://doi.org/10.5812/ijem-158056, doi:10.5812/ijem-158056. This article has 1 citations.
(schwitzgebel2003agenesisofhuman pages 8-9): Valerie M. Schwitzgebel, Aline Mamin, Thierry Brun, Beate Ritz-Laser, Maia Zaiko, Alexandre Maret, Francois R. Jornayvaz, Gerald E. Theintz, Olivier Michielin, Danielle Melloul, and Jacques Philippe. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. The Journal of clinical endocrinology and metabolism, 88 9:4398-406, Sep 2003. URL: https://doi.org/10.1210/jc.2003-030046, doi:10.1210/jc.2003-030046. This article has 224 citations.
(poppel2024pancreasagenesisand media ee293d7e): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.
(poppel2024pancreasagenesisand media 6ed53409): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.
(poppel2024pancreasagenesisand media 387114cf): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.
(poppel2024pancreasagenesisand media d41a1f4e): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.
(poppel2024pancreasagenesisand media dbeee7d7): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.
(sechko2024theidentificationof pages 9-10): Elena A. Sechko, Maria P. Koltakova, Rita I. Khusainova, Ildar R. Minniakhmetov, and Dmitry N. Laptev. The identification of a novel pathogenic variant in the gata6 gene in a child with neonatal diabetes. International Journal of Molecular Sciences, 25:11998, Nov 2024. URL: https://doi.org/10.3390/ijms252211998, doi:10.3390/ijms252211998. This article has 0 citations.