X-linked chronic idiopathic intestinal pseudo-obstruction (CIIPX) caused by loss-of-function mutations in FLNA is a severe gastrointestinal motility disorder primarily affecting males. The condition results from impaired enteric neuron development due to disruption of the filamin A N-terminal region, which is crucial for proper enteric nervous system formation. Affected males present with intestinal pseudo-obstruction, often with bladder dysfunction and central nervous system involvement including periventricular nodular heterotopia. The disorder can also result from Xq28 duplications encompassing FLNA. FLNA duplication may contribute to bowel and bladder dysfunction through a distinct dosage-sensitive mechanism.
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name: FLNA Intestinal Pseudoobstruction
creation_date: "2026-04-04T00:00:00Z"
updated_date: "2026-05-09T00:41:13Z"
description: >-
X-linked chronic idiopathic intestinal pseudo-obstruction (CIIPX) caused by
loss-of-function mutations in FLNA is a severe gastrointestinal motility
disorder primarily affecting males. The condition results from impaired
enteric neuron development due to disruption of the filamin A N-terminal
region, which is crucial for proper enteric nervous system formation.
Affected males present with intestinal pseudo-obstruction, often with
bladder dysfunction and central nervous system involvement including
periventricular nodular heterotopia. The disorder can also result from
Xq28 duplications encompassing FLNA. FLNA duplication may contribute
to bowel and bladder dysfunction through a distinct dosage-sensitive
mechanism.
category: Genetic
parents:
- Gastrointestinal Motility Disorder
- Enteric Neuropathy
disease_term:
preferred_term: intestinal pseudoobstruction, neuronal, X-linked
term:
id: MONDO:0010232
label: intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
prevalence:
- population: Global
percentage: Rare
inheritance:
- name: X-linked Recessive
inheritance_term:
preferred_term: X-linked recessive inheritance
term:
id: HP:0001419
label: X-linked recessive inheritance
pathophysiology:
- name: FLNA Deficiency and Enteric Neuron Development Failure
description: >-
Loss-of-function FLNA mutations disrupt the N-terminal region of filamin A,
which is crucial for proper enteric neuron development. A frameshift
mutation between the two initial methionines of FLNA allows translation
of a truncated protein from the second methionine, producing a filamin A
protein with abnormal cytoskeletal actin organization. This impairs
enteric nervous system development and function, leading to intestinal
dysmotility and pseudo-obstruction.
genes:
- preferred_term: FLNA
term:
id: hgnc:3754
label: FLNA
molecular_functions:
- preferred_term: actin filament binding
term:
id: GO:0051015
label: actin filament binding
cell_types:
- preferred_term: Enteric neuron
term:
id: CL:0007011
label: enteric neuron
- preferred_term: Enteric smooth muscle cell
term:
id: CL:0002504
label: enteric smooth muscle cell
biological_processes:
- preferred_term: Actin cytoskeleton organization
term:
id: GO:0030036
label: actin cytoskeleton organization
- preferred_term: Enteric nervous system development
term:
id: GO:0048484
label: enteric nervous system development
locations:
- preferred_term: Intestine
term:
id: UBERON:0000160
label: intestine
evidence:
- reference: PMID:17357080
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
one affected male from a large CIIPX-affected kindred bears a 2-bp
deletion in exon 2 of the FLNA gene
explanation: >-
Identifies FLNA loss-of-function mutation as causative for X-linked
chronic intestinal pseudo-obstruction.
- reference: PMID:17357080
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
the filamin protein is present in the patient's lymphoblastoid cell
line that shows abnormal cytoskeletal actin organization compared
with normal lymphoblasts
explanation: >-
Demonstrates that the truncated filamin A protein has abnormal
cytoskeletal function.
- reference: PMID:17357080
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
the filamin N terminal region between the initial two methionines
is crucial for proper enteric neuron development
explanation: >-
Establishes the N-terminal region of FLNA as critical for enteric
neuron development.
downstream:
- target: Intestinal Pseudo-obstruction and Dysmotility
- name: Intestinal Pseudo-obstruction and Dysmotility
description: >-
Defective enteric neuron development leads to impaired intestinal
motility, presenting as chronic intestinal pseudo-obstruction with
episodes mimicking mechanical bowel obstruction without physical
blockage. Bladder dysfunction can co-occur.
biological_processes:
- preferred_term: Smooth muscle contraction
term:
id: GO:0006939
label: smooth muscle contraction
locations:
- preferred_term: Intestine
term:
id: UBERON:0000160
label: intestine
- preferred_term: Urinary bladder
term:
id: UBERON:0001255
label: urinary bladder
evidence:
- reference: PMID:18854860
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
We propose that duplication of FLNA may contribute to the bowel
and bladder phenotype seen in these seven families.
explanation: >-
Supports FLNA involvement in both bowel and bladder dysfunction.
phenotypes:
- category: Gastrointestinal
name: Intestinal Pseudo-obstruction
frequency: VERY_FREQUENT
description: >-
Chronic intestinal pseudo-obstruction with episodes mimicking mechanical
bowel obstruction. The primary defining feature of the disorder.
phenotype_term:
preferred_term: Intestinal pseudo-obstruction
term:
id: HP:0004389
label: Intestinal pseudo-obstruction
evidence:
- reference: PMID:17357080
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
an X-linked recessive form of chronic idiopathic intestinal
pseudo-obstruction (CIIPX) maps to Xq28
explanation: >-
Identifies CIIPX as the primary phenotype.
- category: Urological
name: Bladder Dysfunction
frequency: FREQUENT
description: >-
Bladder distension and dysfunction co-occurring with intestinal
pseudo-obstruction, reflecting shared enteric/autonomic innervation
defects.
phenotype_term:
preferred_term: Neurogenic bladder
term:
id: HP:0000011
label: Neurogenic bladder
evidence:
- reference: PMID:18854860
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
several male patients had presented with intestinal
pseudo-obstruction or bladder distension
explanation: >-
Bladder distension occurs alongside intestinal pseudo-obstruction.
- category: Neurological
name: Periventricular Nodular Heterotopia
frequency: OCCASIONAL
description: >-
Central nervous system involvement with periventricular nodular
heterotopia may occur, reflecting the shared FLNA loss-of-function
mechanism with PVNH.
phenotype_term:
preferred_term: Periventricular nodular heterotopia
term:
id: HP:0032388
label: Periventricular nodular heterotopia
evidence:
- reference: PMID:17357080
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
the affected male bearing the FLNA deletion had signs of CNS
involvement and potentially has PVNH
explanation: >-
CNS involvement including possible PVNH in FLNA-CIPO patient.
genetic:
- name: FLNA Loss-of-Function Variants
association: Pathogenic Variants
gene_term:
preferred_term: FLNA
term:
id: hgnc:3754
label: FLNA
inheritance:
- name: X-linked Recessive
inheritance_term:
preferred_term: X-linked recessive inheritance
term:
id: HP:0001419
label: X-linked recessive inheritance
features: >-
Loss-of-function mutations in FLNA, including frameshift mutations and
Xq28 duplications. Primarily affects males. Carrier females may be
mildly affected or asymptomatic.
evidence:
- reference: PMID:17357080
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Filamin A is mutated in X-linked chronic idiopathic intestinal
pseudo-obstruction with central nervous system involvement.
explanation: >-
Title of landmark paper establishing FLNA as causative for CIIPX.
- reference: PMID:18854860
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The two remaining families were shown to have intragenic
duplications of FLNA only.
explanation: >-
FLNA intragenic duplications as an alternative mutational mechanism.
treatments:
- name: Nutritional Support
description: >-
Parenteral nutrition or enteral feeding support for patients with severe
intestinal dysmotility who cannot maintain adequate oral nutrition.
treatment_term:
preferred_term: Nutritional support
term:
id: MAXO:0000088
label: dietary intervention
- name: Surgical Management
description: >-
Surgical intervention may be required for complications of intestinal
pseudo-obstruction including volvulus or severe distension.
treatment_term:
preferred_term: Surgical management
term:
id: MAXO:0000004
label: surgical procedure
- name: Genetic Counseling
description: >-
Genetic counseling regarding X-linked recessive inheritance and carrier
testing for at-risk females.
treatment_term:
preferred_term: Genetic counseling
term:
id: MAXO:0000079
label: genetic counseling
datasets: []
references:
- reference: DOI:10.1002/humu.23355
title: Differential regulation of two<i>FLNA</i>transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: Differential regulation of two<i>FLNA</i>transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies
supporting_text: Differential regulation of two<i>FLNA</i>transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies
- reference: DOI:10.1002/jpn3.12400
title: 'Incidence, diagnostics, therapeutic management and outcomes of paediatric intestinal pseudo‐obstruction in the Netherlands: A 20‐year retrospective cohort study'
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: 'Incidence, diagnostics, therapeutic management and outcomes of paediatric intestinal pseudo‐obstruction in the Netherlands: A 20‐year retrospective cohort study'
supporting_text: To describe incidence, clinical course, diagnostic and therapeutic management and long‐term follow‐up of paediatric intestinal pseudo‐obstruction (PIPO) in the Netherlands between 2000 and 2020.MethodsMulticenter, national, retrospective, observational study including patients aged <18 years diagnosed with PIPO and treated between 2000 and 2020 in Dutch academic medical centres.
evidence:
- reference: DOI:10.1002/jpn3.12400
reference_title: 'Incidence, diagnostics, therapeutic management and outcomes of paediatric intestinal pseudo‐obstruction in the Netherlands: A 20‐year retrospective cohort study'
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: To describe incidence, clinical course, diagnostic and therapeutic management and long‐term follow‐up of paediatric intestinal pseudo‐obstruction (PIPO) in the Netherlands between 2000 and 2020.MethodsMulticenter, national, retrospective, observational study including patients aged <18 years diagnosed with PIPO and treated between 2000 and 2020 in Dutch academic medical centres.
explanation: Deep research cited this publication as relevant literature for FLNA Intestinal Pseudoobstruction.
- reference: DOI:10.1007/s11894-019-0737-y
title: Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing
supporting_text: Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing
- reference: DOI:10.1007/s44162-023-00012-z
title: Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle.
supporting_text: The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle.
evidence:
- reference: DOI:10.1007/s44162-023-00012-z
reference_title: Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle.
explanation: Deep research cited this publication as relevant literature for FLNA Intestinal Pseudoobstruction.
- reference: DOI:10.1016/j.gtc.2011.09.005
title: 'Chronic Intestinal Pseudo-Obstruction: Clinical Features, Diagnosis, and Therapy'
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: 'Chronic Intestinal Pseudo-Obstruction: Clinical Features, Diagnosis, and Therapy'
supporting_text: 'Chronic Intestinal Pseudo-Obstruction: Clinical Features, Diagnosis, and Therapy'
- reference: DOI:10.1038/gim.2012.123
title: Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
supporting_text: Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
- reference: DOI:10.1086/513321
title: Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement
supporting_text: Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement
- reference: DOI:10.1097/pas.0b013e3181f0ae47
title: Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction
supporting_text: Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction
- reference: DOI:10.21203/rs.3.rs-4546691/v1
title: Counseling individuals with pathogenic loss-of-function variants in FLNA – learning points from a cross-sectional cohort study.
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton organization and cell migration.
supporting_text: Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton organization and cell migration.
evidence:
- reference: DOI:10.21203/rs.3.rs-4546691/v1
reference_title: Counseling individuals with pathogenic loss-of-function variants in FLNA – learning points from a cross-sectional cohort study.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton organization and cell migration.
explanation: Deep research cited this publication as relevant literature for FLNA Intestinal Pseudoobstruction.
- reference: DOI:10.3389/fped.2022.837462
title: 'Pediatric Intestinal Pseudo-Obstruction: Progress and Challenges'
found_in:
- FLNA_Intestinal_Pseudoobstruction-deep-research-falcon.md
findings:
- statement: Chronic intestinal pseudo-obstruction is a rare disorder and represents the most severe form of gastrointestinal dysmotility with significant morbidity and mortality.
supporting_text: Chronic intestinal pseudo-obstruction is a rare disorder and represents the most severe form of gastrointestinal dysmotility with significant morbidity and mortality.
evidence:
- reference: DOI:10.3389/fped.2022.837462
reference_title: 'Pediatric Intestinal Pseudo-Obstruction: Progress and Challenges'
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Chronic intestinal pseudo-obstruction is a rare disorder and represents the most severe form of gastrointestinal dysmotility with significant morbidity and mortality.
explanation: Deep research cited this publication as relevant literature for FLNA Intestinal Pseudoobstruction.
FLNA intestinal pseudo-obstruction refers to a rare, genetic, typically X-linked form of severe gastrointestinal dysmotility that clinically mimics mechanical obstruction but lacks an occluding lesion, and is caused by pathogenic variants in FLNA (filamin A). It is often described as an X-linked chronic idiopathic intestinal pseudo-obstruction (CIIPX) / X-linked intestinal pseudo-obstruction, and is frequently associated with a characteristic visceral smooth muscle pathology (abnormal muscle layering) and variable multisystem features (e.g., CNS, cardiovascular). (gargiulo2007filaminais pages 1-2, kapur2010diffuseabnormallayering pages 13-14, jenkins2018differentialregulationof pages 1-7)
A landmark description of the X-linked form defines chronic idiopathic intestinal pseudo-obstruction (CIIP) as a heterogeneous syndrome of severe GI dysmotility, diagnosed by objective evidence of intestinal obstruction without mechanical occlusion (radiologic/surgical/manometric evidence). (gargiulo2007filaminais pages 1-2)
A core anatomic-pathologic correlate in FLNA-associated X-linked cases is “diffuse abnormal layering of small intestinal smooth muscle”, supporting classification within visceral myopathy / enteric neuromyopathy rather than purely neuropathic disease. (kapur2010diffuseabnormallayering pages 13-14, kapur2010diffuseabnormallayering pages 14-14)
Common labels used in the literature include: * X-linked chronic idiopathic intestinal pseudo-obstruction (CIIPX) (gargiulo2007filaminais pages 1-2) * X-linked intestinal pseudo-obstruction (kapur2010diffuseabnormallayering pages 13-14) * FLNA-related chronic intestinal pseudo-obstruction (CIPO) (jenkins2018differentialregulationof pages 1-7) * Overlapping presentation: congenital short bowel syndrome (CSBS) due to FLNA in male patients (werf2013congenitalshortbowel pages 1-2)
The disease characterization is derived primarily from: * Family-based human genetics and case series (e.g., multigenerational kindreds, pathology cohorts). (gargiulo2007filaminais pages 1-2, kapur2010diffuseabnormallayering pages 13-14) * Aggregated cohort resources describing FLNA loss-of-function multisystem disease (including GI features) in tertiary-care cohorts. (rijckmans2024counselingindividualswith pages 1-3)
| Concept | Details | Key citations (PMID/DOI/URL, year) |
|---|---|---|
| Disease label / scope | FLNA-associated X-linked intestinal pseudo-obstruction is a rare hereditary enteric motility disorder within the broader category of FLNA-related chronic intestinal pseudo-obstruction (CIPO); it is commonly framed as a visceral myopathy / enteric neuromyopathy phenotype caused by pathogenic FLNA variants. | Gargiulo et al., Am J Hum Genet (2007), DOI: https://doi.org/10.1086/513321; Jenkins et al., Hum Mutat (2018), DOI: https://doi.org/10.1002/humu.23355 (gargiulo2007filaminais pages 1-2, jenkins2018differentialregulationof pages 1-7) |
| Disease identifier | Open Targets lists FLNA as associated with MONDO:0017574 chronic intestinal pseudoobstruction and with intestinal pseudo-obstruction / familial visceral myopathy disease concepts. | Open Targets disease-target association for FLNA ↔ MONDO:0017574, URL: https://platform.opentargets.org/ (accessed via tool context, 2024-2026) (OpenTargets Search: intestinal pseudo-obstruction,chronic intestinal pseudo-obstruction-FLNA) |
| Common synonyms | X-linked chronic idiopathic intestinal pseudo-obstruction (CIIPX); X-linked intestinal pseudo-obstruction; FLNA-related chronic intestinal pseudo-obstruction; FLNA-related congenital intestinal pseudo-obstruction; FLNA-related visceral myopathy; FLNA-related congenital short bowel syndrome when shortened bowel is the presenting feature. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; van der Werf et al. (2013), DOI: https://doi.org/10.1038/gim.2012.123; Jenkins et al. (2018), DOI: https://doi.org/10.1002/humu.23355 (gargiulo2007filaminais pages 1-2, werf2013congenitalshortbowel pages 1-2, jenkins2018differentialregulationof pages 1-7) |
| Primary gene | FLNA (filamin A), Xq28; encodes an actin-binding cytoskeletal scaffold protein important for smooth-muscle architecture, mechanotransduction, and tissue-specific developmental programs, including intestinal smooth muscle and motility. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; Jenkins et al. (2018), DOI: https://doi.org/10.1002/humu.23355 (gargiulo2007filaminais pages 1-2, jenkins2018differentialregulationof pages 1-7) |
| Inheritance pattern | Predominantly X-linked. Classic intestinal pseudo-obstruction presentations are often described as X-linked recessive / male-limited severe disease in families, whereas FLNA loss-of-function more broadly behaves as X-linked dominant with marked male lethality and female multisystem manifestations. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; Rijckmans et al. preprint (2024), DOI: https://doi.org/10.21203/rs.3.rs-4546691/v1 (gargiulo2007filaminais pages 1-2, rijckmans2024counselingindividualswith pages 1-3) |
| Sex effects | Affected males often have the most severe neonatal/infantile intestinal phenotype and high early mortality; surviving females with FLNA loss-of-function more often show PVNH and multisystem findings, though gastrointestinal symptoms such as constipation/CIPO can occur. Survival in males may depend on residual FLNA function or isoform-specific expression. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; Jenkins et al. (2018), DOI: https://doi.org/10.1002/humu.23355; Rijckmans et al. preprint (2024), DOI: https://doi.org/10.21203/rs.3.rs-4546691/v1 (gargiulo2007filaminais pages 1-2, jenkins2018differentialregulationof pages 1-7, rijckmans2024counselingindividualswith pages 1-3) |
| Hallmark clinical phenotype | Functional intestinal obstruction without a lumen-occluding lesion, typically with recurrent or persistent abdominal distension, vomiting/feeding intolerance, severe dysmotility, failure to thrive, and inability to sustain enteral nutrition in severe cases. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; Jenkins et al. (2018), DOI: https://doi.org/10.1002/humu.23355 (gargiulo2007filaminais pages 1-2, jenkins2018differentialregulationof pages 1-7) |
| Hallmark pathology | Characteristic diffuse abnormal layering of small intestinal smooth muscle; evidence supports a primarily myopathic mechanism in many FLNA intestinal cases. | Kapur et al., Am J Surg Pathol (2010), DOI: https://doi.org/10.1097/PAS.0b013e3181f0ae47 (kapur2010diffuseabnormallayering pages 11-12, kapur2010diffuseabnormallayering pages 13-14, kapur2010diffuseabnormallayering pages 14-14) |
| Associated bowel-development features | Congenital short bowel syndrome and malrotation can be part of the FLNA intestinal spectrum, especially in surviving males with 5′ FLNA variants. | van der Werf et al. (2013), DOI: https://doi.org/10.1038/gim.2012.123; Kapur et al. (2010), DOI: https://doi.org/10.1097/PAS.0b013e3181f0ae47 (werf2013congenitalshortbowel pages 1-2, kapur2010diffuseabnormallayering pages 14-14) |
| Variant classes reported | Small 5′ deletions/frameshifts in exon 2, splice-altering variants with exon skipping, intragenic duplications, and other hypomorphic loss-of-function alleles; several pathogenic mechanisms preserve some protein production and may permit male survival. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; van der Werf et al. (2013), DOI: https://doi.org/10.1038/gim.2012.123; Jenkins et al. (2018), DOI: https://doi.org/10.1002/humu.23355; Kapur et al. (2010), DOI: https://doi.org/10.1097/PAS.0b013e3181f0ae47 (gargiulo2007filaminais pages 1-2, werf2013congenitalshortbowel pages 1-2, jenkins2018differentialregulationof pages 1-7, kapur2010diffuseabnormallayering pages 14-14) |
| Notable recurrent 5′ variants | Reported examples include 2-bp exon-2 deletions such as c.16_17delTC and c.65_66delAC, causing frameshift/premature truncation in the N-terminus and linked to CIIP/CSBS phenotypes. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; van der Werf et al. (2013), DOI: https://doi.org/10.1038/gim.2012.123 (gargiulo2007filaminais pages 1-2, werf2013congenitalshortbowel pages 1-2) |
| Mechanistic interpretation | Many intestinal disease alleles are best understood as loss-of-function or hypomorphic FLNA variants; tissue-specific expression of two FLNA transcripts/translation start sites likely helps explain why some variants preferentially produce intestinal phenotypes. | Jenkins et al. (2018), DOI: https://doi.org/10.1002/humu.23355; Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321 (jenkins2018differentialregulationof pages 1-7, gargiulo2007filaminais pages 1-2) |
| Extra-intestinal manifestations | Central nervous system involvement (especially periventricular nodular heterotopia), seizures or developmental findings, cardiovascular defects (e.g., PDA/ASD/valvular disease), pulmonary/connective-tissue features, megacystis/bladder dysfunction, and constipation may accompany intestinal disease. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; Kapur et al. (2010), DOI: https://doi.org/10.1097/PAS.0b013e3181f0ae47; Rijckmans et al. preprint (2024), DOI: https://doi.org/10.21203/rs.3.rs-4546691/v1 (gargiulo2007filaminais pages 1-2, kapur2010diffuseabnormallayering pages 13-14, rijckmans2024counselingindividualswith pages 1-3) |
| Diagnostic evidence base | Diagnosis is supported by clinical pseudo-obstruction phenotype plus FLNA molecular testing and, when available, full-thickness intestinal histopathology showing smooth-muscle layering abnormalities. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; Kapur et al. (2010), DOI: https://doi.org/10.1097/PAS.0b013e3181f0ae47; van der Werf et al. (2013), DOI: https://doi.org/10.1038/gim.2012.123 (gargiulo2007filaminais pages 1-2, kapur2010diffuseabnormallayering pages 11-12, werf2013congenitalshortbowel pages 1-2) |
| Cohort / family-level evidence | Landmark reports include an Italian kindred with 10 affected males across 4 generations (9/10 died in early infancy), pathology series of FLNA-mutant patients with characteristic smooth-muscle abnormalities, and subsequent reports extending the phenotype to congenital short bowel and multisystem FLNA deficiency cohorts. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; Kapur et al. (2010), DOI: https://doi.org/10.1097/PAS.0b013e3181f0ae47; Rijckmans et al. preprint (2024), DOI: https://doi.org/10.21203/rs.3.rs-4546691/v1 (gargiulo2007filaminais pages 1-2, kapur2010diffuseabnormallayering pages 13-14, rijckmans2024counselingindividualswith pages 1-3) |
| Management implications from reports | Severe cases may require total parenteral nutrition, repeated surgery/stoma procedures, and multidisciplinary surveillance for neurologic, cardiac, pulmonary, and gastrointestinal complications; the 2024 cohort emphasized lack of standardized follow-up guidelines. | Gargiulo et al. (2007), DOI: https://doi.org/10.1086/513321; Kapur et al. (2010), DOI: https://doi.org/10.1097/PAS.0b013e3181f0ae47; Rijckmans et al. preprint (2024), DOI: https://doi.org/10.21203/rs.3.rs-4546691/v1 (gargiulo2007filaminais pages 1-2, kapur2010diffuseabnormallayering pages 13-14, rijckmans2024counselingindividualswith pages 1-3) |
Table: This table summarizes core identifiers, inheritance, defining clinical-pathology features, and landmark supporting publications for FLNA-associated X-linked intestinal pseudo-obstruction / FLNA-related CIPO. It is useful as a compact reference scaffold for a disease knowledge base entry.
Primary cause: genetic—pathogenic variants in FLNA (Xq28) encoding filamin A, an actin-binding cytoskeletal scaffold.
In the original CIIPX report, an X-linked recessive form mapped to Xq28 was shown to be caused by a 2-bp deletion in FLNA exon 2 producing a frameshift and predicted truncation near the N-terminus (with evidence for altered cytoskeletal actin organization in patient cells). (gargiulo2007filaminais pages 1-2)
Genetic risk factor: carrying pathogenic/hypomorphic FLNA variants that reduce effective filamin A function in intestinal smooth muscle. * Example variant class: exon 2 2-bp deletions (frameshift/early stop), reported across CIIPX and CSBS presentations in males (e.g., c.16_17delTC; c.65_66delAC). (gargiulo2007filaminais pages 1-2, werf2013congenitalshortbowel pages 1-2) * Structural variants: intragenic duplications and larger duplications including FLNA have been described in X-linked pseudo-obstruction pathology cohorts. (kapur2010diffuseabnormallayering pages 14-14, kapur2010diffuseabnormallayering pages 13-14)
Non-genetic/environmental risk factors: No FLNA-specific environmental risk factors were identified in the retrieved evidence; most work supports a monogenic etiology.
Not established for FLNA-related intestinal pseudo-obstruction in the retrieved literature. A conceptual “protective” mechanism is residual FLNA function (hypomorphic alleles / alternative transcript usage) permitting survival in hemizygous males, but this is genetic mechanism rather than an identified protective exposure. (jenkins2018differentialregulationof pages 1-7, kapur2010diffuseabnormallayering pages 14-14)
No specific GxE interactions for FLNA intestinal pseudo-obstruction were found in the retrieved evidence.
Typical features are those of functional obstruction: * Abdominal distension, vomiting/feeding intolerance, constipation or altered bowel habits, failure to thrive, and recurrent “obstructive” episodes without a mechanical lesion. (gargiulo2007filaminais pages 1-2, jenkins2018differentialregulationof pages 1-7)
HPO suggestions (non-exhaustive): * Intestinal pseudo-obstruction (HP:0004396) * Vomiting (HP:0002013) * Abdominal distension (HP:0003270) * Constipation (HP:0002019) * Failure to thrive (HP:0001508)
HPO suggestions: * Abnormality of intestinal length (HP:0012098) * Intestinal malrotation (HP:0002566)
Reported extracolonic features across FLNA loss-of-function cohorts and X-linked pseudo-obstruction pathology series include: * CNS involvement (e.g., PVNH spectrum; seizures/developmental findings in some). (gargiulo2007filaminais pages 1-2, kapur2010diffuseabnormallayering pages 13-14) * Cardiovascular findings (e.g., PDA/ASD in tabled cases; broader FLNA LOF cohorts report cardiovascular involvement). (kapur2010diffuseabnormallayering pages 13-14, rijckmans2024counselingindividualswith pages 1-3) * Urogenital/bladder involvement such as megacystis reported in X-linked pseudo-obstruction case tables. (kapur2010diffuseabnormallayering pages 11-12)
HPO suggestions: * Periventricular nodular heterotopia (HP:0002123) * Patent ductus arteriosus (HP:0001643) * Atrial septal defect (HP:0001631) * Megacystis (HP:0002021)
Disease-specific phenotype frequencies for “FLNA intestinal pseudo-obstruction” are limited because published evidence is often family- or case-series-based.
However, in a recent FLNA loss-of-function cohort (monocentric, n=24 index patients), the authors reported epilepsy in 84% and cardiovascular involvement in 56% (not specific to CIPO, but relevant to systemic surveillance for FLNA deficiency). Publication date: Oct 2024 (preprint). URL: https://doi.org/10.21203/rs.3.rs-4546691/v1 (rijckmans2024counselingindividualswith pages 1-3)
Reported FLNA variant classes in X-linked intestinal pseudo-obstruction / FLNA-CIPO include: * Frameshift deletions in exon 2 (e.g., 2-bp deletions) causing early truncation/hypomorphic expression via alternative initiation. (gargiulo2007filaminais pages 1-2, werf2013congenitalshortbowel pages 1-2) * Splice-altering variants / exon skipping producing atypical/hypomorphic loss-of-function effects. (jenkins2018differentialregulationof pages 1-7) * Intragenic duplications and larger duplications including FLNA in pathology-defined X-linked pseudo-obstruction cohorts. (kapur2010diffuseabnormallayering pages 14-14, kapur2010diffuseabnormallayering pages 13-14)
FLNA disorders are often framed as: * Loss-of-function (LOF) variants: reduced/absent expression, associated with PVNH and multisystem findings, and can include CIPO/intestinal pseudo-obstruction phenotypes. (jenkins2018differentialregulationof pages 1-7, rijckmans2024counselingindividualswith pages 1-3)
A mechanistic clue to phenotype specificity is tissue-dependent regulation of two FLNA transcripts / translation start sites, with intestinal smooth muscle showing particular dependence on the long isoform; this provides a plausible explanation for why some 5′ variants produce prominent intestinal disease and male survivorship (hypomorphic alleles). (jenkins2018differentialregulationof pages 1-7)
The original CIIPX kindred was described as X-linked recessive with 10 affected males across 4 generations. (gargiulo2007filaminais pages 1-2)
More broadly, “FLNA deficiency” due to LOF variants is commonly counseled as X-linked dominant with male lethality, with variable female multisystem involvement; GI symptoms including constipation and CIPO are included in the phenotype spectrum. (rijckmans2024counselingindividualswith pages 1-3)
Population allele-frequency values (e.g., gnomAD) for specific CIPO-associated FLNA variants were not retrievable from the current evidence set.
No non-genetic environmental contributors were identified in the retrieved evidence; FLNA intestinal pseudo-obstruction is best supported as a monogenic disorder with secondary complications (e.g., infections related to parenteral nutrition) rather than environmentally initiated disease.
GO biological process (suggestions consistent with evidence): * Smooth muscle contraction (GO:0006939) * Actin filament organization (GO:0007015) * Regulation of cell migration (GO:0030334)
GO cellular component (suggestions): * Actin cytoskeleton (GO:0015629)
UBERON suggestions: * Small intestine (UBERON:0002108) * Colon (UBERON:0001155)
Mechanistically centered on actin cytoskeletal networks (filamin A is an actin-binding scaffold), supported by cytoskeletal abnormalities in patient cells. (gargiulo2007filaminais pages 1-2)
In the CIIPX kindred, disease occurred in male infants with very early mortality (9/10 died in the first months of life). (gargiulo2007filaminais pages 1-2)
In broader pediatric pseudo-obstruction populations, neonatal onset is common (e.g., 26/43 neonatal onset in a national Dutch PIPO cohort, though not FLNA-specific). (demirok2025incidencediagnosticstherapeutic pages 1-2)
CIPO generally has prolonged diagnostic delay and high care burden; an adult CIPO review reports a median 8-year delay to diagnosis and that ~88% underwent ~3 unnecessary surgeries, with 30–50% requiring long-term TPN/HPN and mortality ~10–34% (general CIPO data; not FLNA-specific). (giorgio2011chronicintestinalpseudoobstruction pages 10-12)
Disease-specific prevalence of FLNA intestinal pseudo-obstruction is not well quantified in the retrieved evidence.
For pediatric intestinal pseudo-obstruction broadly, a 20-year Dutch national cohort study reported: * Mean incidence: 0.008/100,000/year (Netherlands, 2000–2020; n=43) (demirok2025incidencediagnosticstherapeutic pages 1-2) * Mortality: 6% (2/43) (demirok2025incidencediagnosticstherapeutic pages 1-2) * Healthcare utilization: median 22.5 admissions (range 1–176) over long follow-up (demirok2025incidencediagnosticstherapeutic pages 1-2)
The CIIPX kindred and pathology series emphasize strong sex effects consistent with X-linked inheritance, with severe male involvement and survival depending on residual/hypomorphic expression in some variant classes. (gargiulo2007filaminais pages 1-2, jenkins2018differentialregulationof pages 1-7, kapur2010diffuseabnormallayering pages 14-14)
Core principle: demonstrate obstruction-like phenotype while excluding mechanical obstruction.
Imaging * Pediatric review: plain abdominal X-ray for air-fluid levels and dilated bowel; contrast studies to exclude mechanical obstruction; CT/MRI enterography proposed as first line; cine-MRI as non-invasive motility assessment. (turcotte2022pediatricintestinalpseudoobstruction pages 5-6)
Manometry * Small-bowel / antroduodenal manometry helps classify neuropathic vs myopathic patterns (e.g., low amplitude patterns suggesting myopathy), but limitations include invasiveness and incomplete correlation with histology. (turcotte2022pediatricintestinalpseudoobstruction pages 5-6, giorgio2011chronicintestinalpseudoobstruction pages 10-12)
Histopathology * Full-thickness biopsy can identify smooth muscle, ENS, or ICC abnormalities; ESPGHAN recommends specialized centers and labeling panels in pediatric contexts. (turcotte2022pediatricintestinalpseudoobstruction pages 5-6) * In FLNA X-linked cases, hallmark smooth muscle abnormal layering supports diagnosis of a visceral myopathy subtype. (kapur2010diffuseabnormallayering pages 13-14, kapur2010diffuseabnormallayering pages 14-14)
Genetic testing * In suspected hereditary CIPO/PIPO, metabolic and genetic screening are part of diagnostic strategies in cohort studies. (demirok2025incidencediagnosticstherapeutic pages 1-2) * For FLNA disease, molecular diagnosis in a recent cohort relied on Sanger sequencing, MLPA, and NGS panels (for malformations of cortical development) rather than WES/WGS. (rijckmans2024counselingindividualswith pages 3-5)
A pediatric review reports that PIPO diagnostic criteria require two of four findings: (1) objective small-bowel neuromuscular involvement (manometry/histopath/transit); (2) recurrent/persistent small-bowel dilation with air-fluid levels; (3) known genetic/metabolic abnormality; (4) feeding intolerance requiring supplemental enteral or parenteral nutrition. (gamboa2019pediatricintestinalpseudoobstruction pages 1-2)
Broader CIPO diagnostic workups explicitly screen for secondary causes including metabolic/endocrine and immune/paraneoplastic disorders and mitochondrial disease (e.g., MNGIE). (giorgio2011chronicintestinalpseudoobstruction pages 10-12)
Parenteral nutrition is life-saving but has major risks (central line infection, thrombosis, liver disease) and contributes substantially to morbidity and quality-of-life burden in pediatric pseudo-obstruction. (turcotte2022pediatricintestinalpseudoobstruction pages 5-6)
In pediatric pseudo-obstruction cohorts, treatment is commonly structured around: * Nutritional support (enteral when possible; PN in severe cases) and surgical interventions as “cornerstones” of care. (demirok2025incidencediagnosticstherapeutic pages 1-2)
MAXO suggestions: * Parenteral nutrition (MAXO:0000878) * Enteral nutrition (MAXO:0000879)
Evidence for CIPO (general, not FLNA-specific) includes use of prokinetics and other agents: * Adult review cites studies of cisapride, erythromycin (positive response in small case series), and octreotide effects on motility/bacterial overgrowth; antibiotic management of SIBO (e.g., rifaximin) is also referenced. (giorgio2011chronicintestinalpseudoobstruction pages 20-21)
Pediatric review emphasizes that there is no universally recommended prokinetic regimen for most pediatric PIPO patients and highlights supportive goals. (turcotte2022pediatricintestinalpseudoobstruction pages 5-6)
MAXO suggestions: * Prokinetic therapy (MAXO:0001020) * Antibiotic therapy (MAXO:0000648)
Reported and referenced options in general CIPO/PIPO literature include: * Stomas/ileostomy and other diversion or decompressive surgeries in severe cases (also seen in FLNA-XIPO pathology cohorts). (kapur2010diffuseabnormallayering pages 13-14) * Intestinal transplantation / multivisceral transplantation in advanced intestinal failure (general CIPO references include a series of “100 multivisceral transplants at a single center”). (giorgio2011chronicintestinalpseudoobstruction pages 20-21)
MAXO suggestions: * Ileostomy (MAXO:0001060) * Intestinal transplantation (MAXO:0001109)
A 2024 FLNA LOF cohort emphasizes that systematic multidisciplinary follow-up (notably cardiology screening) was often lacking and that less overt symptoms (e.g., constipation) may be underreported, arguing for standardized surveillance in FLNA deficiency. (rijckmans2024counselingindividualswith pages 1-3)
A prospective observational registry study (Italy) is assessing the diagnostic yield of Sanger sequencing of ACTG2 and FLNA in adult idiopathic CIPO with a myopathic phenotype suggested by reduced/absent distal esophageal contractility on HRM. * NCT ID: NCT07448753 * First posted: 2026-03-04 * Start date: 2025-09-17 * ClinicalTrials.gov URL: https://clinicaltrials.gov/study/NCT07448753 (registry data captured in tool context). (NCT07448753 chunk 1)
No primary prevention is currently established for monogenic FLNA intestinal pseudo-obstruction.
Key prevention strategy is genetic counseling and surveillance in families with pathogenic FLNA variants, given X-linked inheritance and multisystem risks; recent cohort evidence emphasizes the need for multidisciplinary follow-up and absence of uniform guidelines. (rijckmans2024counselingindividualswith pages 1-3)
MAXO suggestions: * Genetic counseling (MAXO:0000079) * Cascade genetic testing (MAXO:0000754)
No evidence of FLNA-driven intestinal pseudo-obstruction in non-human species was retrieved.
A naturally occurring visceral smooth muscle disorder presenting as chronic intestinal pseudo-obstruction has been reported in a Bengal cat, illustrating comparative “visceral myopathy” pathology but not implicating FLNA. (OpenTargets Search: intestinal pseudo-obstruction,chronic intestinal pseudo-obstruction-FLNA)
A 2023 multidisciplinary forum report on visceral myopathy notes that animal models are scarce, limiting mechanistic and therapeutic development in this general disease area (not FLNA-specific). (OpenTargets Search: intestinal pseudo-obstruction,chronic intestinal pseudo-obstruction-FLNA)
No FLNA-specific intestinal pseudo-obstruction animal model evidence was retrievable in the current document set.
References
(gargiulo2007filaminais pages 1-2): Annagiusi Gargiulo, Renata Auricchio, Maria Vittoria Barone, Gabriella Cotugno, William Reardon, Peter J. Milla, Andrea Ballabio, Alfredo Ciccodicola, and Alberto Auricchio. Filamin a is mutated in x-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. American journal of human genetics, 80 4:751-8, Apr 2007. URL: https://doi.org/10.1086/513321, doi:10.1086/513321. This article has 148 citations and is from a highest quality peer-reviewed journal.
(kapur2010diffuseabnormallayering pages 13-14): Raj P. Kapur, Stephen P. Robertson, Mark C. Hannibal, Laura S. Finn, Timothy Morgan, Margriet van Kogelenberg, and David J. Loren. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with flna mutations and x-linked intestinal pseudo-obstruction. The American Journal of Surgical Pathology, 34:1528-1543, Oct 2010. URL: https://doi.org/10.1097/pas.0b013e3181f0ae47, doi:10.1097/pas.0b013e3181f0ae47. This article has 77 citations.
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(kapur2010diffuseabnormallayering pages 14-14): Raj P. Kapur, Stephen P. Robertson, Mark C. Hannibal, Laura S. Finn, Timothy Morgan, Margriet van Kogelenberg, and David J. Loren. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with flna mutations and x-linked intestinal pseudo-obstruction. The American Journal of Surgical Pathology, 34:1528-1543, Oct 2010. URL: https://doi.org/10.1097/pas.0b013e3181f0ae47, doi:10.1097/pas.0b013e3181f0ae47. This article has 77 citations.
(OpenTargets Search: intestinal pseudo-obstruction,chronic intestinal pseudo-obstruction-FLNA): Open Targets Query (intestinal pseudo-obstruction,chronic intestinal pseudo-obstruction-FLNA, 4 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.
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