Details of Disease

General Information of Disease (ID: DIS1FL1O)

Disease Name Hypogonadotropic hypogonadism 17 with or without anosmia
Synonyms HH17; SPRY4 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism caused by mutation in SPRY4; hypogonadotropic hypogonadism 17 with or without anosmia
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DIS1FL1O: Hypogonadotropic hypogonadism 17 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0014102
UMLS CUI
C3808971
OMIM ID
615266
MedGen ID
815301

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
SPRY4 OT2VK9N0 Limited Unknown [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.