Details of Disease | DrugMAP

General Information of Disease (ID: DISEWQ6V)

Disease Name	Hypogonadotropic hypogonadism 18 with or without anosmia
Synonyms	HH18; hypogonadotropic hypogonadism caused by mutation in IL17RD; hypogonadotropic hypogonadism 18 with or without anosmia; IL17RD hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant
Definition	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.
Disease Hierarchy	DIS8JSKR: Hypogonadotropic hypogonadism DISO3HDG: Kallmann syndrome DISEWQ6V: Hypogonadotropic hypogonadism 18 with or without anosmia
Disease Identifiers	MONDO ID MONDO_0014103 UMLS CUI C3808975 OMIM ID 615267 MedGen ID 815305

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL17RD	OTKD9XST	Limited	Autosomal dominant	[1]
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References

1	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.