Details of Disease

General Information of Disease (ID: DISXRAPW)

Disease Name Hypogonadotropic hypogonadism 16 with or without anosmia
Synonyms HH16; SEMA3A hypogonadotropic hypogonadism; hypogonadotropic hypogonadism caused by mutation in SEMA3A; hypogonadotropic hypogonadism 16 with or without anosmia
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISXRAPW: Hypogonadotropic hypogonadism 16 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0013961
UMLS CUI
C3554021
OMIM ID
614897
MedGen ID
766935

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
SEMA3A TTVKD3S Limited Genetic Variation [1]
SEMA3A TTVKD3S Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SEMA3A OTQJSV7W Strong Autosomal dominant [2]
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References

1 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.
2 SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. Hum Reprod. 2012 May;27(5):1460-5. doi: 10.1093/humrep/des022. Epub 2012 Mar 12.