ZFIN Human Disease: Leydig cell hypoplasia type I

OBO ID: DOID:0112260

Term Name:	Leydig cell hypoplasia type I		Search Ontology:
Synonyms:	46,XY disorder of sex development due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY DSD due to complete LH receptor inactivation 46,XY DSD due to complete LH resistance 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY DSD due to complete luteinizing hormone resistance Leydig cell hypoplasia due to complete LH receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance
Definition:	A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. (2)
References:	OMIM:238320 ORDO:96265
Ontology:	Human Disease ( DOID:0112260 )

Relationships

is a type of:	Leydig cell hypoplasia Leydig cell hypoplasia Show first 5 Terms

OTHER Leydig cell hypoplasia type I PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LHCGR	lhcgr	Leydig cell hypoplasia with hypergonadotropic hypogonadism	238320
		Luteinizing hormone resistance, female	238320
		Leydig cell hypoplasia with pseudohermaphroditism	238320

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None