Chronic intestinal pseudoobstruction (CIPO) is a rare, severe disorder of gastrointestinal motility in which patients have episodes that mimic mechanical bowel obstruction — abdominal distension, vomiting, constipation, and inability to tolerate enteral feeds — in the absence of any physical luminal blockage. It is mechanistically heterogeneous: primary forms arise from defects of the enteric nervous system (neuropathic CIPO, including X-linked FLNA-associated CIPO), intestinal smooth muscle (myopathic CIPO), or mitochondrial DNA maintenance (mitochondrial neurogastrointestinal encephalomyopathy / MNGIE), and a substantial fraction remain idiopathic. Pediatric CIPO (PIPO) is recognised as biologically and clinically distinct from adult CIPO. The disease carries significant long-term morbidity from bowel-failure complications, parenteral-nutrition dependence, and recurrent surgery; in the most severe cases intestinal transplantation is considered. Subtype-specific molecular detail for X-linked FLNA CIPO is curated separately as `FLNA_Intestinal_Pseudoobstruction`.
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name: Chronic Intestinal Pseudoobstruction
creation_date: '2026-05-12T00:00:00Z'
updated_date: '2026-05-12T19:00:00Z'
description: >-
Chronic intestinal pseudoobstruction (CIPO) is a rare, severe disorder
of gastrointestinal motility in which patients have episodes that mimic
mechanical bowel obstruction — abdominal distension, vomiting,
constipation, and inability to tolerate enteral feeds — in the absence
of any physical luminal blockage. It is mechanistically heterogeneous:
primary forms arise from defects of the enteric nervous system
(neuropathic CIPO, including X-linked FLNA-associated CIPO),
intestinal smooth muscle (myopathic CIPO), or mitochondrial DNA
maintenance (mitochondrial neurogastrointestinal encephalomyopathy /
MNGIE), and a substantial fraction remain idiopathic. Pediatric CIPO
(PIPO) is recognised as biologically and clinically distinct from
adult CIPO. The disease carries significant long-term morbidity from
bowel-failure complications, parenteral-nutrition dependence, and
recurrent surgery; in the most severe cases intestinal transplantation
is considered. Subtype-specific molecular detail for X-linked FLNA
CIPO is curated separately as `FLNA_Intestinal_Pseudoobstruction`.
categories:
- Gastrointestinal Motility Disorder
- Enteric Neuropathy
- Rare Disease
has_subtypes:
- name: Neuropathic
display_name: Neuropathic CIPO (incl. FLNA-related)
subtype_term:
preferred_term: intestinal pseudoobstruction, neuronal, X-linked
term:
id: MONDO:0010232
label: intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
description: >-
Primary CIPO due to defects of the enteric nervous system —
enteric-neuron developmental failure (e.g., X-linked FLNA
loss-of-function, curated as `FLNA_Intestinal_Pseudoobstruction`),
enteric ganglionitis, or other neuropathic mechanisms.
- name: Myopathic
display_name: Myopathic CIPO (visceral myopathy)
description: >-
Primary CIPO due to intestinal smooth-muscle dysfunction, including
familial and sporadic visceral myopathies with poorly contractile
or acontractile smooth muscle. No dedicated subtype dismech entry
yet; specific visceral-myopathy gene entries are scoped as
follow-up curation.
- name: Mitochondrial
display_name: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
subtype_term:
preferred_term: MNGIE
term:
id: MONDO:0011283
label: mitochondrial DNA depletion syndrome 1
description: >-
CIPO arising from mitochondrial DNA depletion / instability
(classically due to TYMP deficiency) with combined
gastrointestinal dysmotility, leukoencephalopathy, peripheral
neuropathy, and external ophthalmoplegia. MONDO:0011283
(mitochondrial DNA depletion syndrome 1) is the canonical
grounding for MNGIE.
- name: Idiopathic
description: >-
CIPO without an identified neuropathic, myopathic, mitochondrial,
or secondary cause after appropriate work-up. A substantial
fraction of childhood- and adult-onset CIPO remains in this
category.
pathophysiology:
- name: Enteric Neuron Developmental Failure
description: >-
Neuropathic CIPO arises from defects of the enteric nervous system
— most commonly failed enteric-neuron development or maintenance.
The flagship example is X-linked FLNA loss-of-function, in which
the truncated filamin A protein fails to support proper enteric
neuron development; ganglionitis and other primary neuropathic
mechanisms also feed this node.
cell_types:
- preferred_term: enteric neuron
term:
id: CL:0007011
label: enteric neuron
biological_processes:
- preferred_term: enteric nervous system development
modifier: ABNORMAL
term:
id: GO:0048484
label: enteric nervous system development
locations:
- preferred_term: intestine
term:
id: UBERON:0000160
label: intestine
downstream:
- target: Intestinal Dysmotility
causal_link_type: DIRECT
- name: Smooth Muscle Contractile Failure
description: >-
Myopathic CIPO arises from intrinsic smooth-muscle defects of the
intestinal wall — poorly contractile or acontractile smooth muscle
that cannot generate the propulsive contractions needed for
peristalsis, regardless of the integrity of the enteric nervous
system. Familial and sporadic visceral myopathies, as well as
mitochondrial bioenergetic failure of smooth muscle in MNGIE,
feed this node.
cell_types:
- preferred_term: enteric smooth muscle cell
term:
id: CL:0002504
label: enteric smooth muscle cell
biological_processes:
- preferred_term: smooth muscle contraction
modifier: DECREASED
term:
id: GO:0006939
label: smooth muscle contraction
locations:
- preferred_term: intestine
term:
id: UBERON:0000160
label: intestine
downstream:
- target: Intestinal Dysmotility
causal_link_type: DIRECT
- name: Intestinal Dysmotility
description: >-
The shared physiological endpoint across CIPO subtypes is
insufficient or absent propulsive intestinal motility, producing
episodes that mimic mechanical obstruction. Upstream neuropathic
(enteric-neuron developmental failure) and myopathic (smooth-muscle
contractile failure) lesions converge on this endpoint.
locations:
- preferred_term: intestine
term:
id: UBERON:0000160
label: intestine
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: Pediatric review directly supports CIPO as the most severe gastrointestinal-dysmotility disorder with high morbidity and mortality.
phenotypes:
- category: Gastrointestinal
name: Intestinal Pseudo-obstruction
description: >-
Recurrent episodes that mimic mechanical bowel obstruction in the
absence of physical luminal blockage. The defining clinical feature
of the disease across all etiological subtypes.
phenotype_term:
preferred_term: Intestinal pseudo-obstruction
term:
id: HP:0004389
label: Intestinal pseudo-obstruction
- category: Gastrointestinal
name: Abdominal Distention
description: >-
Abdominal distension from failed propulsive motility; often the most
visible sign of obstructive episodes.
phenotype_term:
preferred_term: Abdominal distention
term:
id: HP:0003270
label: Abdominal distention
- category: Gastrointestinal
name: Vomiting
description: >-
Recurrent vomiting reflecting failed gastrointestinal transit during
pseudo-obstructive episodes.
phenotype_term:
preferred_term: Vomiting
term:
id: HP:0002013
label: Vomiting
- category: Gastrointestinal
name: Constipation
description: >-
Severe constipation from impaired intestinal propulsion; may
alternate with episodes of pseudo-obstruction.
phenotype_term:
preferred_term: Constipation
term:
id: HP:0002019
label: Constipation
- category: Gastrointestinal
name: Feeding Difficulties
description: >-
Inability to tolerate enteral nutrition during active disease,
often necessitating parenteral nutritional support.
phenotype_term:
preferred_term: Feeding difficulties
term:
id: HP:0011968
label: Feeding difficulties
- category: Gastrointestinal
name: Failure to Thrive
description: >-
Growth failure in pediatric CIPO from chronic malnutrition and
inability to maintain adequate enteral intake.
phenotype_term:
preferred_term: Failure to thrive
term:
id: HP:0001508
label: Failure to thrive
genetic:
- name: FLNA
gene_term:
preferred_term: FLNA
term:
id: hgnc:3754
label: FLNA
association: X-linked Loss-of-Function
notes: >-
Loss-of-function variants in FLNA (including frameshift variants
and Xq28 duplications) cause X-linked CIPO with periventricular
nodular heterotopia and bladder involvement. Subtype-specific
detail is curated in `FLNA_Intestinal_Pseudoobstruction`.
- name: TYMP
gene_term:
preferred_term: TYMP
term:
id: hgnc:3148
label: TYMP
association: Autosomal Recessive Loss-of-Function
notes: >-
Biallelic TYMP (thymidine phosphorylase) loss-of-function variants
cause MNGIE through mitochondrial DNA depletion and instability,
with CIPO as the cardinal gastrointestinal feature. A dedicated
dismech MNGIE entry is scoped as follow-up curation; here TYMP is
listed as the canonical genetic cause of the mitochondrial CIPO
subtype.
treatments:
- name: Parenteral Nutrition
description: >-
Total parenteral nutrition is the mainstay of supportive care for
patients whose intestinal motility cannot sustain adequate enteral
caloric and fluid intake; long-term TPN dependence is a major
determinant of morbidity.
treatment_term:
preferred_term: total parenteral nutrition
term:
id: NCIT:C29484
label: Total Parenteral Nutrition
- name: Enteral Nutritional Support
description: >-
Enteral feeding (oral, naso-jejunal, or gastrostomy / jejunostomy)
is preferred when tolerated, both to maintain mucosal integrity
and to limit the complications of long-term parenteral nutrition.
treatment_term:
preferred_term: dietary intervention
term:
id: MAXO:0000088
label: dietary intervention
- name: Surgical Management
description: >-
Targeted surgical procedures (decompression, venting enterostomy,
resection of dysfunctional segments) are used for complications of
pseudo-obstruction such as severe distension, volvulus, or
bowel-segment dysfunction.
treatment_term:
preferred_term: surgical procedure
term:
id: MAXO:0000004
label: surgical procedure
- name: Intestinal Transplantation
description: >-
Intestinal (or multivisceral) transplantation is considered for
patients with irreversible intestinal failure who have life-
threatening complications of long-term parenteral nutrition.
treatment_term:
preferred_term: organ transplantation
term:
id: MAXO:0010039
label: organ transplantation
- name: Genetic Counseling
description: >-
Genetic counseling is appropriate when a heritable subtype is
identified or suspected (e.g., X-linked FLNA-associated CIPO,
autosomal mitochondrial or visceral-myopathy syndromes).
treatment_term:
preferred_term: genetic counseling
term:
id: MAXO:0000079
label: genetic counseling
notes: >-
This entry is a root-level dismech record for chronic intestinal
pseudoobstruction, organising the major mechanistic categories
(neuropathic, myopathic, mitochondrial / MNGIE, idiopathic).
Subtype-specific molecular detail for the X-linked FLNA neuropathic
form is curated in `FLNA_Intestinal_Pseudoobstruction`. Dedicated
entries for visceral myopathies and for MNGIE are scoped as
follow-up curation. Phenotype `frequency:` tags were intentionally
omitted from this root entry because the cited literature in scope
here supports the existence of these features in CIPO but does not
provide subtype-pooled quantitative frequencies; reintroduce them
per the frequency-evidence SOP once dedicated cohort data are
curated.
disease_term:
preferred_term: chronic intestinal pseudoobstruction
term:
id: MONDO:0017574
label: chronic intestinal pseudoobstruction
No deep-research provider was invoked for this root-level entry. The
existing subtype dismech entry (FLNA_Intestinal_Pseudoobstruction)
has its own -deep-research-falcon.md artifact from prior curation;
this root-level record was curated directly from the verified
literature already cached in references_cache/ for the FLNA-CIPO
subtype, plus the foundational DOI:10.3389/fped.2022.837462
pediatric-CIPO review, plus ORPHA-grounded subtype identifiers for
the X-linked and mitochondrial forms.
Chronic intestinal pseudoobstruction (CIPO) is a rare, severe disorder
of gastrointestinal motility in which patients experience episodes that
mimic mechanical bowel obstruction in the absence of any physical
luminal blockage. The pediatric review
DOI:10.3389/fped.2022.837462 ("Pediatric Intestinal Pseudo-Obstruction:
Progress and Challenges") frames CIPO as "the most severe form of
gastrointestinal dysmotility with significant morbidity and mortality."
That review also distinguishes Pediatric Intestinal Pseudo-Obstruction
(PIPO) as biologically and clinically distinct from adult CIPO.
Mechanistic heterogeneity. Primary CIPO partitions along three
mechanistic axes that this root entry models as separate atomic
pathophysiology nodes converging on a shared Intestinal Dysmotility
endpoint:
FLNA_Intestinal_Pseudoobstruction dismech entry. The truncated
filamin A protein fails to support proper enteric neuron
development. Other neuropathic mechanisms include enteric
ganglionitis and acquired enteric neuropathies.genetic[] so that a future dedicated MNGIE dismech
entry has a starting point.Clinical syndrome. Six core phenotypes are captured (Intestinal
pseudo-obstruction HP:0004389, Abdominal distention HP:0003270,
Vomiting HP:0002013, Constipation HP:0002019, Feeding difficulties
HP:0011968, Failure to thrive HP:0001508). Frequency tags were
deliberately omitted from this root entry per the dismech
frequency-evidence SOP — the cited literature supports the existence
of these features in CIPO but does not provide subtype-pooled
quantitative frequencies appropriate for the umbrella entry.
Management. The supportive-care ladder is captured in
treatments[]: parenteral nutrition (NCIT:C29484, the mainstay
for patients whose motility cannot sustain enteral intake), enteral
nutritional support (MAXO:0000088, preferred when tolerated),
surgical management (MAXO:0000004), intestinal transplantation
(MAXO:0010039, reserved for irreversible intestinal failure with
TPN complications), and genetic counseling (MAXO:0000079) for
heritable subtypes.
FLNA_Intestinal_Pseudoobstruction.