ORPHA:309015
Familial lipoprotein lipase deficiency
Synonyms: LPL deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
This disease is described under Familial chylomicronemia syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial lipoprotein lipase deficiency | LPL deficiency |
| fr | Déficit familial en lipoprotéine lipase | Déficit en LPL |
| de | Lipoprotein-Lipase-Mangel, familiärer | LPL-Mangel |
| es | Deficiencia familiar de lipoproteína lipasa | Deficiencia de LPL |
| it | Deficit familiare di lipoproteina lipasi | Deficit di LPL |
| nl | Familiale deficiëntie van lipoproteïnelipase | LPL-deficiëntie |
| pt | Défice de lipoproteina lipase, forma familiar | |
| pl | Rodzinny Niedobór lipazy lipoproteinowej | Niedobór Lpl |
| cs | Familiární deficit lipoproteinové lipázy | Deficit LPL |
| uk | Сімейний дефіцит ліпопротеїнліпази | Дефіцит LPL |
| zh | 家族性脂蛋白脂酶缺乏症 | 脂蛋白脂酶缺乏症 |
| tr | Ailesel lipoprotein lipaz eksikliği | LPL eksikliği |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 144250 | BTNT | validated | |
| OMIM | 238600 | E | validated | |
| ICD-10 | E78.3 | NTBT | attributed | validated |
| ICD-11 | 5C80.1 | NTBT | index | validated |
| MONDO | 0009387 | E | validated | |
| GARD | 12241 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:444490Familial chylomicronemia syndrome
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LPL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6677 | ENSG00000175445 | 609708 | 8p21.3 | lipoprotein lipase | 24589565[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | United States | Value and class | Validated | 20301485[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309015
- This record as JSON: /data/d/309015.json