Pancreatic triacylglycerol lipase deficiency
Synonyms: Pancreatic triglyceride lipase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy
- Status
- active
A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pancreatic triacylglycerol lipase deficiency | Pancreatic triglyceride lipase deficiency |
| fr | Déficit en triacylglycérol lipase pancréatique | Déficit en triglycéride lipase pancréatique |
| de | Triglycerid-Lipase-Mangel, pankreatischer | |
| es | Deficiencia de triacilglicerol-lipasa pancreática | |
| it | Deficit di triacilglicerolo lipasi pancreatica | |
| nl | Deficiëntie van pancreatisch triacylglycerollipase | Deficiëntie van pancreatisch triglyceridelipase |
| pt | Défice da triacilglicerol lipase pancreática | |
| pl | Niedobór trzustkowej lipazy triglicerydów | Niedobór trzustkowej lipazy trójglicerydów |
| cs | Deficit pankreatické triacylglycerollipázy | Deficit pankreatické triglyceridlipázy |
| uk | Дефіцит панкреатичної триацилгліцеринової ліпази | Дефіцит панкреатичної тригліцеридліпази |
| zh | 胰三酰甘油脂酶缺乏 | 胰甘油三酯脂酶缺乏 |
| tr | Pankreas triaçilgliserol lipaz eksikliği | Pankreatik trigliserid lipaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614338 | E | validated | |
| ICD-10 | K90.3 | NTBT | attributed | validated |
| ICD-11 | 5C62 | NTBT | index | validated |
| MONDO | 0013700 | E | validated | |
| UMLS | C0268240 | 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 |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | Unknown | — | Worldwide | Class only | 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
21 annotations · validated 2019-07-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002027 | Abdominal pain | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0012378 | Fatigue | |
| HP:0004905 | Low levels of vitamin A | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0100513 | Low levels of vitamin E | |
| HP:0011892 | Low levels of vitamin K | |
| HP:0002570 | Steatorrhea | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0002014 | Diarrhea | |
| HP:0001510 | Growth delay | |
| HP:0012047 | Hemeralopia | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0002749 | Osteomalacia | |
| HP:0000939 | Osteoporosis | |
| HP:0002748 | Rickets | |
| Very rare (<4-1%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002583 | Colitis | |
| HP:0000969 | Edema | |
Annotation source: 24262094[PMID]_31086851[PMID]_28727474[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309031
- This record as JSON: /data/d/309031.json