ZFIN Human Disease: congenital adrenal hyperplasia

OBO ID: DOID:0050811

Term Name:	congenital adrenal hyperplasia		Search Ontology:
Synonyms:	adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH
Definition:	A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. (3)
References:	GARD:1465 GARD:1467 ICD10CM:E25 ICD9CM:255.2 OMIM:201710 OMIM:201810 OMIM:201910 OMIM:202010 OMIM:202110 ORDO:418 SNOMEDCT_US_2023_03_01:154706003 UMLS_CUI:C0701163
Ontology:	Human Disease ( DOID:0050811 )

Relationships

is a type of:	physical disorder steroid inherited metabolic disorder physical disorder steroid inherited metabolic disorder Show first 5 Terms

OTHER congenital adrenal hyperplasia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CYP17A1	cyp17a1	17,20-lyase deficiency, isolated	202110
		17-alpha-hydroxylase/17,20-lyase deficiency	202110
CYP21A2	cyp21a2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	201910
		Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	201910
STAR	star	Lipoid adrenal hyperplasia	201710
CYP11B1		Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
HSD3B2		Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency

ZEBRAFISH MODELS

Fish	Conditions	Citations
cyp11c1^{ihb284/ihb284} (AB)	standard conditions	Zhang et al., 2020
cyp11c1^{ihb285/ihb285} (AB)	standard conditions	Zhang et al., 2020

PHENOTYPE No data available

CITATIONS (3)