Details of Disease

General Information of Disease (ID: DISZ5RJ5)

Disease Name Hypogonadotropic hypogonadism 19 with or without anosmia
Synonyms HH19; DUSP6 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 19 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in DUSP6
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISZ5RJ5: Hypogonadotropic hypogonadism 19 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0014105
UMLS CUI
C3808981
OMIM ID
615269
MedGen ID
815311

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
DUSP6 OT4H6RKW Limited Autosomal dominant [1]
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References

1 DUSP6 (MKP3) null mice show enhanced ERK1/2 phosphorylation at baseline and increased myocyte proliferation in the heart affecting disease susceptibility. J Biol Chem. 2008 Nov 7;283(45):31246-55. doi: 10.1074/jbc.M806085200. Epub 2008 Aug 27.