Details of Disease

General Information of Disease (ID: DIS16UQ4)

Disease Name Gillessen-Kaesbach-Nishimura syndrome
Synonyms
GIKANIS; polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia; polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia; Gillessen-Kaesbach-Nishimura syndrome
Disease Hierarchy
DISTGKN8: ALG9-congenital disorder of glycosylation
DIS16UQ4: Gillessen-Kaesbach-Nishimura syndrome
Disease Identifiers
MONDO ID
MONDO_0009890
MESH ID
C564881
UMLS CUI
C1849762
OMIM ID
263210
MedGen ID
376653

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
ALG9 OT5V9PIR Moderate 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.