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GENATLAS PHENOTYPE

last update : 20/09/2006

Symbol	CRHD
Location	8q13
Name	congenital isolated adrenocorticotropic hormone deficiency
Corresponding gene	CRH
Main clinical features	hypothalamic corticotropin dificiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Gene product

Name	corticotropin releasing hormone (CRH) or a serum/glucocorticoid regulated kinase-like