Details of Disease | DrugMAP

General Information of Disease (ID: DISVDHZQ)

Disease Name	Hypogonadotropic hypogonadism 12 with or without anosmia
Synonyms	familial hypogonadotropic eunuchoidism; FIGD; gonadotropin deficiency, familial idiopathic; gonadotropin deficiency familial idiopathic; HH12; eunuchoidism familial hypogonadotropic; eunuchoidism, familial hypogonadotropic; familial idiopathic gonadotrpin deficiency; hypogonadotropic hypogonadism 12 with or without anosmia; familial hypogonadotrophic eunuchoidism
Definition	A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.
Disease Hierarchy	DIS8JSKR: Hypogonadotropic hypogonadism DISVDHZQ: Hypogonadotropic hypogonadism 12 with or without anosmia
Disease Identifiers	MONDO ID MONDO_0013914 MESH ID C535764 UMLS CUI C1856897 OMIM ID 614841 MedGen ID 347328

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNRH1	TT0ID4A	Strong	Autosomal recessive	[1]
GNRH1	TT0ID4A	Definitive	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNRH1	OTH8A44K	Strong	Autosomal recessive	[1]
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References

1	Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. N Engl J Med. 2009 Jun 25;360(26):2742-8. doi: 10.1056/NEJMoa0900136. Epub 2009 Jun 17.
2	Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.