Pancreatic colipase deficiency
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- historical
A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pancreatic colipase deficiency | |
| fr | Déficit en colipase pancréatique | |
| de | Colipase-Mangel | |
| es | Deficiencia de colipasa pancreática | |
| it | Deficit di colipasi pancreatica | |
| nl | Deficiëntie van pancreatisch colipase | |
| pt | Défice de colipase pancreática | |
| pl | Niedobór kolipazy trzustkowej | |
| cs | Deficit pankreatické kolipázy | |
| uk | Дефіцит панкреатичної коліпази | |
| zh | 胰复合脂酶缺乏 | |
| tr | Pankreas kolipaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614338 | NTBT | validated | |
| ICD-10 | K90.3 | NTBT | attributed | validated |
| ICD-11 | 5C62 | NTBT | index | validated |
| MONDO | 0017711 | E | validated | |
| UMLS | C0268241 | 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:309028Disorder of lipid absorption and transport
rare inborn errors of metabolism; rare gastroenterological diseases; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7068048[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7068048[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.
HPO phenotypes
7 annotations · validated 2016-03-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002028 | Chronic diarrhea | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0002630 | Fat malabsorption | |
| HP:0001889 | Megaloblastic anemia | |
| HP:0002570 | Steatorrhea | |
| Occasional (29-5%) | ||
| HP:0001081 | Cholelithiasis | |
| Excluded (0%) | ||
| HP:0001510 | Growth delay | |
Annotation source: 7068048[PMID]_5144703[PMID]_14169458[PMID]_6153713[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309108
- This record as JSON: /data/d/309108.json