Details of Disease

General Information of Disease (ID: DISUTSRI)

Disease Name Hypogonadotropic hypogonadism 8 with or without anosmia
Synonyms HH8; hypogonadotropic hypogonadism 8 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in KISS1R; KISS1R hypogonadotropic hypogonadism
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISUTSRI: Hypogonadotropic hypogonadism 8 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0013910
UMLS CUI
C3553841
OMIM ID
614837
MedGen ID
766755

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
KISS1R TT3KBZY Disputed Genetic Variation [1]
KISS1R TT3KBZY Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KISS1R OTQA3J6G Definitive Autosomal recessive [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 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.