ORPHA:325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Synonyms: Classic CLAH
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Congenital lipoid adrenal hyperplasia due to STAR deficency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic congenital lipoid adrenal hyperplasia due to STAR deficency | Classic CLAH |
| fr | Hyperplasie congénitale lipoïde classique des surrénales par déficit en STAR | CLAH classique |
| de | Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel, klassische Form | CLAH, klassische |
| es | Hiperplasia suprarrenal congénita lipoide clásica por deficiencia de STAR | CLAH clásica · HSCL clásica |
| it | Iperplasia surrenalica lipoide congenita classica da deficit di STAR | CLAH classica |
| nl | Klassieke congenitale lipoïde adrenale hyperplasie door STAR-deficiëntie | Klassieke CLAH · Klassieke congenitale lipoïde bijnierhyperplasie door STAR-deficiëntie |
| pt | Hiperplasia supra-renal lipoide congénita clássica por deficiência de STAR | CLAH clássica |
| pl | Klasyczny wrodzony przerost nadnerczy z powodu niedoboru STAR | Klasyczny CLAH |
| cs | Klasická vrozená lipoidní adrenální hyperplázie způsobená STAR deficitem | Klasická CLAH |
| uk | Класична вроджена ліпоїдна гіперплазія надниркових залоз, зумовлена дефіцитом STAR | Класичний CLAH |
| zh | 经典STAR缺乏所致先天性类脂性肾上腺增生症 | 经典型CLAH |
| tr | STAR eksikliğine bağlı klasik doğumsal lipoid adrenal hiperplazi | Klasik CLAH |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.01 | NTBT | index | validated |
| MONDO | 0017972 | E | validated | |
| UMLS | C5679869 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90790Congenital lipoid adrenal hyperplasia due to STAR deficency
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11359 | ENSG00000147465 | 600617 | 8p11.23 | steroidogenic acute regulatory protein | 20444910[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/325524
- This record as JSON: /data/d/325524.json