Chromosome 1p36 Deletion Syndrome

Genetic MONDO:0011929 Pathograph 5 Show in embeddings browser hereditary disease chromosomal disorder

Chromosome 1p36 deletion syndrome (monosomy 1p36) is the most common terminal deletion syndrome in humans, affecting about 1 in 5,000 newborns. Terminal (and less often interstitial) deletions of varying size across the distal short arm of chromosome 1 produce haploinsufficiency of multiple contiguous genes, causing developmental delay, intellectual disability, hypotonia, seizures, short stature, distinctive facial features, brain anomalies, hearing and vision problems, congenital heart defects and cardiomyopathy, orofacial clefting, and renal anomalies. The syndrome is clinically recognizable but phenotypically variable, and severity does not track cleanly with deletion size, implicating position effects and haploinsufficiency of more than one gene.

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1
Inheritance
2
Pathophys.
13
Phenotypes
5
Pathograph
1
Genes
2
Medical Actions
2
Subtypes
2
References
👪

Inheritance

1
Heterozygous 1p36 terminal deletion HP:0000006
The deletion is present in the heterozygous state, so a single copy of the 1p36 interval is lost — the dosage basis on which the syndrome is classified as autosomal dominant.
Autosomal dominant inheritance
Show evidence (1 reference)
PMID:17918734 SUPPORT Human Clinical
"Monosomy 1p36 results from a heterozygous deletion of the most distal chromosomal band on the short arm of chromosome 1."
Establishes that the deletion acts in the heterozygous state. Note this review states the zygosity, not a de novo rate or a transmission observation; the de novo fraction is deliberately left uncurated here rather than asserted without a cited source.
◆

Subtypes

2
1p36 terminal deletion
The most common form — a terminal deletion of the distal 1p36 region, of variable breakpoint and size.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans."
Establishes terminal deletions of 1p36 as the most common terminal deletions in humans.
1p36 interstitial deletion
A less common interstitial deletion within 1p36. Deletions of varying length occur throughout the ~30 Mb of chromosome 1p36, contributing to phenotypic variability.
Show evidence (1 reference)
PMID:26910004 SUPPORT Human Clinical
"the severity of the clinical features was not always associated with the deletion size"
Documents that severity does not track cleanly with deletion size across the variable deletions.
⚙

Pathophysiology

2
1p36 Terminal Deletion
A terminal (or interstitial) deletion of the distal short arm of chromosome 1, of variable size across the ~30 Mb 1p36 region, removing one copy of the genes in the deleted segment.
Downstream
Haploinsufficiency of 1p36 Genes The deletion reduces the dosage of contiguous 1p36 genes.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals."
Notes the clinically recognizable but variable phenotype of the 1p36 deletion.
Haploinsufficiency of 1p36 Genes
Reduced dosage of contiguous 1p36 genes produces the multisystem phenotype. Severity does not track cleanly with deletion size, implicating position effects and haploinsufficiency of more than one gene; candidate contributors include RERE, KCNAB2 (seizures), GABRD, SKI, PRDM16 (cardiomyopathy), MMP23B, CASZ1, and others.
neuron CL:0000540 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves neuron (CL:0000540). CL:0000540 is a cell type from the Cell Ontology.
Downstream
Global Developmental Delay
Seizures
Congenital Heart Defects
Show evidence (1 reference)
PMID:26910004 SUPPORT Human Clinical
"The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
Summarizes the major clinical features resulting from 1p36 haploinsufficiency.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Chromosome 1p36 Deletion Syndrome Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
●

Phenotypes

13
Cardiovascular 2
Congenital Heart Defects FREQUENT Abnormal heart morphology HP:0001627 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Congenital heart defect, annotated with Abnormal heart morphology (HP:0001627). HP:0001627 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Congenital heart defects are among the medical problems commonly caused by 1p36 deletions.
Cardiomyopathy OCCASIONAL HP:0001638 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Cardiomyopathy (HP:0001638). HP:0001638 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Cardiomyopathy is among the medical problems caused by 1p36 deletions (PRDM16 is a candidate).
Ear 1
Hearing Impairment FREQUENT HP:0000365 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Hearing loss, annotated with Hearing impairment (HP:0000365). HP:0000365 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Hearing loss is among the medical problems commonly caused by 1p36 deletions.
Eye 1
Vision Problems FREQUENT Abnormality of vision HP:0000504 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Vision problems, annotated with Abnormality of vision (HP:0000504). HP:0000504 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Vision problems are among the medical problems commonly caused by 1p36 deletions.
Genitourinary 1
Renal Anomalies OCCASIONAL Abnormality of the kidney HP:0000077 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Kidney anomaly, annotated with Abnormality of the kidney (HP:0000077). HP:0000077 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Renal anomalies are among the medical problems commonly caused by 1p36 deletions.
Head and Neck 2
Distinctive Facial Features VERY_FREQUENT Abnormal facial shape HP:0001999 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Distinctive facial features, annotated with Abnormal facial shape (HP:0001999). HP:0001999 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26910004 SUPPORT Human Clinical
"The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
Craniofacial dysmorphism is a major clinical feature.
Orofacial Clefting OCCASIONAL HP:0000202 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Orofacial cleft (HP:0000202). HP:0000202 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Orofacial clefting is among the medical problems commonly caused by 1p36 deletions.
Musculoskeletal 1
Hypotonia VERY_FREQUENT HP:0001252 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Hypotonia (HP:0001252). HP:0001252 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26910004 SUPPORT Human Clinical
"The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
Hypotonia is a major clinical feature.
Nervous System 4
Global Developmental Delay VERY_FREQUENT HP:0001263 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Global developmental delay (HP:0001263). HP:0001263 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26910004 SUPPORT Human Clinical
"The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
Developmental delay is a major clinical feature.
Intellectual Disability VERY_FREQUENT HP:0001249 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Intellectual disability (HP:0001249). HP:0001249 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Intellectual disability is among the medical problems commonly caused by 1p36 deletions.
Seizures FREQUENT HP:0001250 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Seizure (HP:0001250). HP:0001250 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Seizures are among the medical problems commonly caused by 1p36 deletions.
Brain Anomalies FREQUENT Abnormal brain morphology HP:0012443 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Brain anomalies, annotated with Abnormal brain morphology (HP:0012443). HP:0012443 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
Brain anomalies are among the medical problems commonly caused by 1p36 deletions.
Growth 1
Short Stature FREQUENT HP:0004322 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Short stature (HP:0004322). HP:0004322 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:26910004 SUPPORT Human Clinical
"The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
Short stature is a major clinical feature.
🧬

Genetic Associations

1
1p36 terminal deletion (Causal)
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals."
Establishes the variable phenotype of the causal 1p36 deletion.
💊

Medical Actions

2
Multidisciplinary Supportive Care
Action: supportive careNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is supportive care (NCIT:C15747). NCIT:C15747 is a clinical intervention from the NCI Thesaurus. Ontology label: Supportive Care NCIT:C15747
No curative therapy exists. Management is supportive and multidisciplinary — developmental/early intervention, seizure management, and cardiac surveillance (including for cardiomyopathy), with hearing, vision, and renal evaluation.
Physical and Occupational Therapy
Action: physical therapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is physical therapy (NCIT:C15302). NCIT:C15302 is a clinical intervention from the NCI Thesaurus. Ontology label: Physical Therapy NCIT:C15302
Platform: Behavioral / lifestyle
For hypotonia and developmental/motor delay.
🔬

Diagnosis

1
Chromosomal Microarray (1p36 copy-number loss)
Detected and sized by chromosomal microarray (array-based copy-number analysis).
📊

Prevalence

1
Live births
Birth Prevalence 20.0 per 100,000 1–9 per 10,000 (births)
Approximately 1 in 5,000 newborns (20 per 100,000); the most common terminal deletion syndrome in humans.
Show evidence (1 reference)
PMID:26345236 SUPPORT Human Clinical
"Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans."
Provides the ~1 in 5,000 newborn prevalence.
{ }

Source YAML

click to show 
name: Chromosome 1p36 Deletion Syndrome
creation_date: "2026-08-22T00:00:00Z"
description: >-
  Chromosome 1p36 deletion syndrome (monosomy 1p36) is the most common terminal
  deletion syndrome in humans, affecting about 1 in 5,000 newborns. Terminal (and
  less often interstitial) deletions of varying size across the distal short arm of
  chromosome 1 produce haploinsufficiency of multiple contiguous genes, causing
  developmental delay, intellectual disability, hypotonia, seizures, short stature,
  distinctive facial features, brain anomalies, hearing and vision problems,
  congenital heart defects and cardiomyopathy, orofacial clefting, and renal
  anomalies. The syndrome is clinically recognizable but phenotypically variable,
  and severity does not track cleanly with deletion size, implicating position
  effects and haploinsufficiency of more than one gene.
category: Genetic
synonyms:
- monosomy 1p36
- 1p36 deletion syndrome
- 1p36 monosomy
- deletion 1p36
parents:
- hereditary disease
- chromosomal disorder
disease_term:
  preferred_term: chromosome 1p36 deletion syndrome
  term:
    id: MONDO:0011929
    label: chromosome 1p36 deletion syndrome
has_subtypes:
- name: Terminal deletion
  display_name: 1p36 terminal deletion
  description: >-
    The most common form — a terminal deletion of the distal 1p36 region, of
    variable breakpoint and size.
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans."
    explanation: Establishes terminal deletions of 1p36 as the most common terminal deletions in humans.
- name: Interstitial deletion
  display_name: 1p36 interstitial deletion
  description: >-
    A less common interstitial deletion within 1p36. Deletions of varying length
    occur throughout the ~30 Mb of chromosome 1p36, contributing to phenotypic
    variability.
  evidence:
  - reference: PMID:26910004
    reference_title: "Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "the severity of the clinical features was not always associated with the deletion size"
    explanation: Documents that severity does not track cleanly with deletion size across the variable deletions.
inheritance:
- name: Heterozygous 1p36 terminal deletion
  inheritance_term:
    preferred_term: Autosomal dominant inheritance
    term:
      id: HP:0000006
      label: Autosomal dominant inheritance
  description: >-
    The deletion is present in the heterozygous state, so a single copy of the
    1p36 interval is lost — the dosage basis on which the syndrome is classified
    as autosomal dominant.
  evidence:
  - reference: PMID:17918734
    reference_title: Monosomy 1p36 deletion syndrome.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Monosomy 1p36 results from a heterozygous deletion of the most distal
      chromosomal band on the short arm of chromosome 1.
    explanation: >-
      Establishes that the deletion acts in the heterozygous state. Note this
      review states the zygosity, not a de novo rate or a transmission
      observation; the de novo fraction is deliberately left uncurated here
      rather than asserted without a cited source.
prevalence:
- population: Live births
  measure_type: BIRTH_PREVALENCE
  prevalence_class: BAND_1_5_PER_10000
  rate_per_100000: 20.0
  notes: >-
    Approximately 1 in 5,000 newborns (20 per 100,000); the most common terminal
    deletion syndrome in humans.
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans."
    explanation: Provides the ~1 in 5,000 newborn prevalence.
pathophysiology:
- name: 1p36 Terminal Deletion
  biological_scale: MOLECULAR
  description: >-
    A terminal (or interstitial) deletion of the distal short arm of chromosome 1,
    of variable size across the ~30 Mb 1p36 region, removing one copy of the genes
    in the deleted segment.
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals."
    explanation: Notes the clinically recognizable but variable phenotype of the 1p36 deletion.
  downstream:
  - target: Haploinsufficiency of 1p36 Genes
    causal_link_type: DIRECT
    description: The deletion reduces the dosage of contiguous 1p36 genes.
- name: Haploinsufficiency of 1p36 Genes
  biological_scale: MOLECULAR
  description: >-
    Reduced dosage of contiguous 1p36 genes produces the multisystem phenotype.
    Severity does not track cleanly with deletion size, implicating position
    effects and haploinsufficiency of more than one gene; candidate contributors
    include RERE, KCNAB2 (seizures), GABRD, SKI, PRDM16 (cardiomyopathy), MMP23B,
    CASZ1, and others.
  cell_types:
  - preferred_term: neuron
    term:
      id: CL:0000540
      label: neuron
  evidence:
  - reference: PMID:26910004
    reference_title: "Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
    explanation: Summarizes the major clinical features resulting from 1p36 haploinsufficiency.
  downstream:
  - target: Global Developmental Delay
    causal_link_type: DIRECT
  - target: Seizures
    causal_link_type: DIRECT
  - target: Congenital Heart Defects
    causal_link_type: DIRECT
phenotypes:
- category: Neurologic
  name: Global Developmental Delay
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Global developmental delay
    term:
      id: HP:0001263
      label: Global developmental delay
  evidence:
  - reference: PMID:26910004
    reference_title: "Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
    explanation: Developmental delay is a major clinical feature.
- category: Neurologic
  name: Intellectual Disability
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Intellectual disability
    term:
      id: HP:0001249
      label: Intellectual disability
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Intellectual disability is among the medical problems commonly caused by 1p36 deletions.
- category: Musculoskeletal
  name: Hypotonia
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Hypotonia
    term:
      id: HP:0001252
      label: Hypotonia
  evidence:
  - reference: PMID:26910004
    reference_title: "Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
    explanation: Hypotonia is a major clinical feature.
- category: Craniofacial
  name: Distinctive Facial Features
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Distinctive facial features
    term:
      id: HP:0001999
      label: Abnormal facial shape
  evidence:
  - reference: PMID:26910004
    reference_title: "Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
    explanation: Craniofacial dysmorphism is a major clinical feature.
- category: Neurologic
  name: Seizures
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Seizure
    term:
      id: HP:0001250
      label: Seizure
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Seizures are among the medical problems commonly caused by 1p36 deletions.
- category: Growth
  name: Short Stature
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Short stature
    term:
      id: HP:0004322
      label: Short stature
  evidence:
  - reference: PMID:26910004
    reference_title: "Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms."
    explanation: Short stature is a major clinical feature.
- category: Otologic
  name: Hearing Impairment
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Hearing loss
    term:
      id: HP:0000365
      label: Hearing impairment
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Hearing loss is among the medical problems commonly caused by 1p36 deletions.
- category: Ophthalmologic
  name: Vision Problems
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Vision problems
    term:
      id: HP:0000504
      label: Abnormality of vision
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Vision problems are among the medical problems commonly caused by 1p36 deletions.
- category: Cardiac
  name: Congenital Heart Defects
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Congenital heart defect
    term:
      id: HP:0001627
      label: Abnormal heart morphology
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Congenital heart defects are among the medical problems commonly caused by 1p36 deletions.
- category: Cardiac
  name: Cardiomyopathy
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Cardiomyopathy
    term:
      id: HP:0001638
      label: Cardiomyopathy
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Cardiomyopathy is among the medical problems caused by 1p36 deletions (PRDM16 is a candidate).
- category: Renal
  name: Renal Anomalies
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Kidney anomaly
    term:
      id: HP:0000077
      label: Abnormality of the kidney
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Renal anomalies are among the medical problems commonly caused by 1p36 deletions.
- category: Craniofacial
  name: Orofacial Clefting
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Orofacial cleft
    term:
      id: HP:0000202
      label: Orofacial cleft
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Orofacial clefting is among the medical problems commonly caused by 1p36 deletions.
- category: Neurologic
  name: Brain Anomalies
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Brain anomalies
    term:
      id: HP:0012443
      label: Abnormal brain morphology
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies."
    explanation: Brain anomalies are among the medical problems commonly caused by 1p36 deletions.
genetic:
- name: 1p36 terminal deletion
  association: Causal
  notes: >-
    Terminal (or interstitial) deletion of distal 1p36 (copy-number loss), of
    variable size across the ~30 Mb region; the most common terminal deletion in
    humans. No single causal gene; haploinsufficiency of more than one gene
    contributes, and candidate genes include RERE, KCNAB2, GABRD, SKI, PRDM16,
    MMP23B, and CASZ1. No coordinate slot exists in the schema; the deletion is
    recorded here in prose.
  evidence:
  - reference: PMID:26345236
    reference_title: "1p36 deletion syndrome: an update."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals."
    explanation: Establishes the variable phenotype of the causal 1p36 deletion.
diagnosis:
- name: Chromosomal Microarray
  presence: 1p36 copy-number loss
  notes: Detected and sized by chromosomal microarray (array-based copy-number analysis).
treatments:
- name: Multidisciplinary Supportive Care
  description: >-
    No curative therapy exists. Management is supportive and multidisciplinary —
    developmental/early intervention, seizure management, and cardiac surveillance
    (including for cardiomyopathy), with hearing, vision, and renal evaluation.
  treatment_term:
    preferred_term: supportive care
    term:
      id: NCIT:C15747
      label: Supportive Care
- name: Physical and Occupational Therapy
  description: For hypotonia and developmental/motor delay.
  therapeutic_modality: BEHAVIORAL
  treatment_term:
    preferred_term: physical therapy
    term:
      id: NCIT:C15302
      label: Physical Therapy
references:
- reference: PMID:26345236
  title: "1p36 deletion syndrome: an update."
- reference: PMID:26910004
  title: "Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes."
📚

References & Deep Research

References

2
PMID:26345236
1p36 deletion syndrome: an update.
No top-level findings curated for this source.
PMID:26910004
Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes.
No top-level findings curated for this source.