Details of Disease

General Information of Disease (ID: DISHMP3P)

Disease Name Hypogonadotropic hypogonadism 11 with or without anosmia
Synonyms HH11; hypogonadotropic hypogonadism 11 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in TACR3; TACR3 hypogonadotropic hypogonadism
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISHMP3P: Hypogonadotropic hypogonadism 11 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0013913
UMLS CUI
C3553844
OMIM ID
614840
MedGen ID
766758

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TACR3 TTBPGLU Strong Autosomal recessive [1]
TACR3 TTBPGLU Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TACR3 OT7Q68XE 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.
2 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31.