ZFIN Human Disease: cortisone reductase deficiency 1

OBO ID: DOID:0090141

Term Name:	cortisone reductase deficiency 1		Search Ontology:
Synonyms:	CORTRD1
Definition:	A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (2)
References:	NCI:C131849 OMIM:604931
Ontology:	Human Disease ( DOID:0090141 )

Relationships

is a type of:	autosomal recessive disease cortisone reductase deficiency autosomal recessive disease cortisone reductase deficiency Show first 5 Terms

OTHER cortisone reductase deficiency 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
H6PD	h6pd	Cortisone reductase deficiency 1	604931

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None