ORPHA:325529

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

This disease is described under Congenital lipoid adrenal hyperplasia due to STAR deficency

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
fr	Hyperplasie congénitale lipoïde non classique des surrénales par déficit en STAR	CLAH non classique
de	Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel, nicht-klassische Form	CLAH, nicht-klassische
es	Hiperplasia suprarrenal congénita lipoide no clásica por deficiencia de STAR	CLAH no clásica · HSCL no clásica
it	Iperplasia surrenalica lipoide congenita non classica da deficit di STAR	CLAH non classica
nl	Niet-klassieke congenitale lipoïde adrenale hyperplasie door STAR-deficiëntie	Niet-klassieke CLAH · Niet-klassieke congenitale lipoïde bijnierhyperplasie door STAR-deficiëntie
pt	Hiperplasia supra-renal lipoide congénita não-clássica por deficiência de STAR	CLAH não-clássica
pl	Nieklasyczny wrodzony przerost nadnerczy z powodu niedoboru STAR
cs	Neklasická vrozená lipoidní adrenální hyperplázie způsobená STAR deficitem
uk	Некласична вроджена ліпоїдна гіперплазія надниркових залоз, зумовлена дефіцитом STAR
zh	非经典STAR缺乏所致先天性类脂性肾上腺增生症
tr	STAR eksikliğine bağlı klasik olmayan doğumsal lipoid adrenal hiperplazi

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	0017973	E		validated
UMLS	C5680948	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

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
ORPHA:399584Rare male infertility due to adrenal disorder
rare infertility disorders
ORPHA:399994Rare male infertility due to adrenal disorder of genetic origin
rare genetic diseases

No children.

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]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.