Details of Disease

General Information of Disease (ID: DISFW0QI)

Disease Name Precocious puberty, central, 2
Synonyms CPPB2; precocious puberty, central, type 2; precocious puberty, central, 2; central precocious puberty caused by mutation in MKRN3; MKRN3 central precocious puberty
Definition Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.
Disease Hierarchy
DISW1TFK: Central precocious puberty
DISFW0QI: Precocious puberty, central, 2
Disease Identifiers
MONDO ID
MONDO_0014137
MESH ID
C000726751
UMLS CUI
C3809199
OMIM ID
615346
MedGen ID
815529

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MKRN3 OTAFO4YR Strong 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.