Chronic intestinal pseudoobstruction syndrome
Synonyms: CIPO · CIPO syndrome · CIPS · CIP syndrome
- Type
- Clinical syndrome
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare and heterogeneous gastroenterological clinical syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine in absence of any mechanical occlusive lesion. Permanent alterations in neural, muscular, or mesenchymal structures of the intestinal wall or its extrinsic neural control, chronically impair tonic and propulsive motor functions in one or more segments of the gut.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic intestinal pseudoobstruction syndrome | CIPO · CIPO syndrome · CIPS · CIP syndrome |
| fr | Syndrome de pseudo-obstruction intestinale chronique | Syndrome de POIC |
| de | Pseudoobstruktion, chronische intestinale | CIPO · CIPO-Syndrom · CIPS · Chronisches intestinales Pseudoobstruktionssyndrom |
| es | Síndrome de pseudoobstrucción intestinal crónica | Síndrome CIP · Síndrome CIPO · Síndrome PIC · Síndrome POIC |
| it | Pseudo-ostruzione intestinale cronica | CIPO |
| nl | Syndroom van chronische intestinale pseudo-obstructie | CIP-syndroom · CIPO · CIPO-syndroom · CIPS |
| pt | Síndrome de pseudo-obstrução intestinal crónica | CIPO · CIPS · Síndrome CIP · Síndrome CIPO |
| pl | Przewlekła rzekoma niedrożność jelit | CIPO |
| cs | Chronická střevní pseudoobstrukce | CIPO |
| uk | Хронічна псевдообструкція кишечника | CIPO |
| zh | 慢性小肠假性梗阻 | CIPO |
| tr | Kronik bağırsak psödoobstrüksiyon | CIPO |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243180 | BTNT | validated | |
| OMIM | 300048 | BTNT | validated | |
| OMIM | 601223 | BTNT | validated | |
| OMIM | 609629 | BTNT | validated | |
| ICD-10 | K59.8 | NTBT | attributed | validated |
| ICD-11 | DA90.2 | NTBT | index | validated |
| MONDO | 0017574 | E | validated | |
| UMLS | C0238062 | E | validated | |
| GARD | 12744 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ACTG2 | ORPHA:104077Myopathic intestinal pseudoobstruction | Disease-causing germline mutation(s) in | Assessed | HGNC:145 | ENSG00000163017 | 102545 | 2p13.1 | actin gamma 2, smooth muscle | 24591628[PMID] |
| FLNA | ORPHA:99811Neuronal intestinal pseudoobstruction | Disease-causing germline mutation(s) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 17357080[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| Frequent (79-30%) | ||
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0002566 | Intestinal malrotation | |
| HP:0002021 | Pyloric stenosis | |
| Occasional (29-5%) | ||
| HP:0011875 | Abnormal platelet morphology | |
| HP:0001643 | Patent ductus arteriosus | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2978
- This record as JSON: /data/d/2978.json