Details of Disease

General Information of Disease (ID: DISFF2IN)

Disease Name Hypogonadotropic hypogonadism 20 with or without anosmia
Synonyms HH20; FGF17 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 20 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in FGF17
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISFF2IN: Hypogonadotropic hypogonadism 20 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0014106
UMLS CUI
C3808983
OMIM ID
615270
MedGen ID
815313

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
FGF17 OTAQSFZ2 Strong 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.