Details of Disease

General Information of Disease (ID: DISRQE1E)

Disease Name Centra precocious puberty 1
Synonyms CPPB1; central precocious puberty caused by mutation in KISS1R; KISS1R central precocious puberty; precocious puberty, central, 1; precocious puberty, central, type 1
Definition Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.
Disease Hierarchy
DISW1TFK: Central precocious puberty
DISRQE1E: Centra precocious puberty 1
Disease Identifiers
MONDO ID
MONDO_0008302
UMLS CUI
C3805879
OMIM ID
176400
MedGen ID
812209

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 Limited Autosomal dominant [1]
KISS1R TT3KBZY Strong Biomarker [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 Limited Autosomal dominant [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 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.