ORPHA:2301
Congenital short bowel syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital short bowel syndrome | |
| fr | Syndrome du grêle court congénital | SGC congénital · Syndrome de l'intestin court congénital |
| de | Kurzdarm-Syndrom, kongenitales | |
| es | Síndrome de intestino corto congénito | |
| it | Sindrome dell'intestino corto congenito | |
| nl | Congenitaal kortedarmsyndroom | |
| pt | Congenital short bowel syndrome | |
| pl | Wrodzony zespół krótkiego jelita | |
| cs | Vrozený syndrom krátkého střeva | |
| uk | Синдром вродженої короткої кишки | |
| zh | 先天性短肠综合征 | |
| tr | Doğumsal kısa bağırsak sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300048 | BTNT | validated | |
| OMIM | 615237 | E | validated | |
| ICD-10 | Q43.8 | NTBT | attributed | validated |
| ICD-11 | LB15.2 | E | specific | validated |
| MONDO | 0014097 | E | validated | |
| UMLS | C5441717 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:108967Non-syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:365563Primary short bowel syndrome
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLMP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24039 | ENSG00000166250 | 611693 | 11q24.1 | CXADR like cell adhesion molecule | 22155368[PMID] |
| FLNA | Disease-causing germline mutation(s) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 23037936[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 43 cases | Worldwide | Case(s) | Validated | 21042453[PMID]_22155368[PMID]_27352967[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21042453[PMID]_22155368[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005245 | Intestinal hypoplasia | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0002566 | Intestinal malrotation | |
| HP:0100578 | Lipoatrophy | |
| HP:0004322 | Short stature | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0100627 | Displacement of the urethral meatus | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2301
- This record as JSON: /data/d/2301.json