Details of Disease

General Information of Disease (ID: DISJBI0M)

Disease Name Hypogonadotropic hypogonadism 10 with or without anosmia
Synonyms HH10; hypogonadotropic hypogonadism 10 with or without anosmia; TAC3 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism caused by mutation in TAC3
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISJBI0M: Hypogonadotropic hypogonadism 10 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0013912
UMLS CUI
C3553843
OMIM ID
614839
MedGen ID
766757

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
TAC3 OTOJGM38 Strong Autosomal recessive [1]
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References

1 TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans. J Clin Endocrinol Metab. 2010 May;95(5):2287-95. doi: 10.1210/jc.2009-2600. Epub 2010 Mar 1.