ORPHA:90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Synonyms: CLAH · LCAH · Lipoid CAH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital lipoid adrenal hyperplasia due to STAR deficency | CLAH · LCAH · Lipoid CAH |
| fr | Hyperplasie congénitale lipoïde des surrénales par déficit en STAR | LCAH · Lipoid CAH · CLAH |
| de | Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel | CLAH · LCAH |
| es | Hiperplasia suprarrenal congénita lipoide por deficiencia de STAR | HSC lipoide |
| it | Iperplasia surrenalica lipoide congenita da deficit di STAR | LCAH · Lipoid CAH · CLAH |
| nl | Congenitale lipoïde adrenale hyperplasie door STAR-deficiëntie | CLAH · Congenitale lipoïde bijnierhyperplasie door STAR-deficiëntie · LCAH · Lipoïde CAH |
| pt | Hiperplasia supra-renal lipóide congénita por deficiência de STAR | CAH lipóide · CLAH · LCAH |
| pl | Wrodzony lipoidowy przerost nadnerczy spowodowany niedoborem STAR | CLAH |
| cs | Vrozená lipoidní adrenální hyperplázie způsobená deficitem STAR | CLAH |
| uk | Вроджена ліпоїдна гіперплазія надниркових залоз внаслідок дефіциту STAR | CLAH |
| zh | STAR缺乏所致先天性类脂性肾上腺皮质增生症 | CLAH |
| tr | STAR eksikliğine bağlı doğumsal lipoid adrenal hiperplazi | CLAH |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201710 | E | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.01 | NTBT | index | validated |
| MONDO | 0008725 | E | validated | |
| MeSH | C537027 | E | validated | |
| UMLS | C0342474 | E | validated | |
| GARD | 1465 | 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 (6):
- ORPHA:9078646,XY difference of sex development due to adrenal and testicular steroidogenesis defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:418Congenital adrenal hyperplasia
rare genetic diseases; rare endocrine diseases - ORPHA:400018Rare female infertility due to adrenal disorder of genetic origin
rare genetic diseases - ORPHA:399849Rare female infertility due to an adrenal disorder
rare infertility disorders - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| STAR | ORPHA:325524Classic congenital lipoid adrenal hyperplasia due to STAR deficency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11359 | ENSG00000147465 | 600617 | 8p11.23 | steroidogenic acute regulatory protein | 20444910[PMID] |
| STAR | ORPHA:325529Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
25 annotations · validated 2021-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0003154 | Increased circulating ACTH level | |
| Frequent (79-30%) | ||
| HP:0030347 | Abnormal circulating androgen level | |
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0008221 | Adrenal hyperplasia | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0001945 | Fever | |
| HP:0000841 | Hyperactive renin-angiotensin system | |
| HP:0002153 | Hyperkalemia | |
| HP:0002902 | Hyponatremia | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0010885 | Avascular necrosis | |
| HP:0001298 | Encephalopathy | |
| HP:0001508 | Failure to thrive | |
| HP:0001943 | Hypoglycemia | |
| HP:0000952 | Jaundice | |
| HP:0000053 | Macroorchidism | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0002090 | Pneumonia | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0003002 | Breast carcinoma | |
| HP:0012114 | Endometrial carcinoma | |
| HP:0040187 | Neonatal sepsis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32835366[PMID]_33227378[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90790
- This record as JSON: /data/d/90790.json