Combined pancreatic lipase-colipase deficiency
historical
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined pancreatic lipase-colipase deficiency | |
| fr | Déficit combiné en lipase-colipase pancréatique | |
| de | Kombinierter Lipase-Colipase-Mangel des Pankreas | |
| es | Deficiencia pancreática combinada de lipasa-colipasa | |
| it | Deficit combinato di lipasi-colipasi pancreatica | |
| nl | Gecombineerde deficiëntie van pancreatisch lipase-colipase | |
| pt | Défice combinado da lípase - colipase pancreática | |
| pl | Złożony Niedobór lipazy-kolipazy trzustkowej | |
| cs | Kombinovaný deficit pankreatické lipázy a kolipázy | |
| uk | Комбінована панкреатична ліпазо-коліпазна недостатність | |
| zh | 胰脂酶联合大肠酶缺乏症 | |
| tr | Kombine pankreas lipaz-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 | attributed | validated |
| MONDO | 0017712 | E | validated | |
| UMLS | C4706317 | 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 | 3 cases | Worldwide | Case(s) | Validated | 2265786[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2265786[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309111
- This record as JSON: /data/d/309111.json