ORPHA:727925
Familial combined hypolipidemia
Synonyms: Angiopoietin-like 3 deficiency
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial combined hypolipidemia | Angiopoietin-like 3 deficiency |
| fr | Hypolipémie familiale combinée | Déficit en angiopoïétine-like 3 |
| de | Familiäre kombinierte Hypolipidämie | Angiopoetin-ähnliches Protein 3-Mangel |
| es | Hipolipidemia combinada familiar | Deficiencia similar a angiopoyetina 3 |
| it | Ipolipidemia combinata familiare | Deficit simile allangiopoietina 3 |
| nl | Familiale gecombineerde hypolipidemie | Deficiëntie van angiopoëtine-achtig eiwit 3 |
| pt | Familial combined hypolipidemia | |
| pl | Familial combined hypolipidemia | = en |
| cs | Familial combined hypolipidemia | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605019 | 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:31154Hypobetalipoproteinemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANGPTL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:491 | ENSG00000132855 | 604774 | 1p31.3 | angiopoietin like 3 | 22062970[PMID]_22659251[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
6
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/727925
- This record as JSON: /data/d/727925.json