Details of Disease

General Information of Disease (ID: DIS5R089)

Disease Name Hypogonadotropic hypogonadism 13 with or without anosmia
Synonyms HH13; hypogonadotropic hypogonadism 13 with or without anosmia; KISS1 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism caused by mutation in KISS1
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DIS5R089: Hypogonadotropic hypogonadism 13 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0013915
UMLS CUI
C3541462
OMIM ID
614842
MedGen ID
762090

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
KISS1 TTU2O6T Limited Autosomal recessive [1]
KISS1 TTU2O6T Limited 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
KISS1 OT6IE3K2 Limited Autosomal recessive [1]
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References

1 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.
2 Inactivating KISS1 mutation and hypogonadotropic hypogonadism. N Engl J Med. 2012 Feb 16;366(7):629-35. doi: 10.1056/NEJMoa1111184.