Details of Disease

General Information of Disease (ID: DISI88EN)

Disease Name Hypogonadotropic hypogonadism 14 with or without anosmia
Synonyms HH14; hypogonadotropic hypogonadism 14 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in WDR11; WDR11 hypogonadotropic hypogonadism
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISI88EN: Hypogonadotropic hypogonadism 14 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0013926
UMLS CUI
C3540450
OMIM ID
614858
MedGen ID
761703

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
WDR11 OT5CY5UR Strong Autosomal dominant [1]
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References

1 WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2010 Oct 8;87(4):465-79. doi: 10.1016/j.ajhg.2010.08.018.