Details of Disease

General Information of Disease (ID: DISLY3V2)

Disease Name Keratitis fugax hereditaria
Synonyms KERATOENDOTHELIITIS fugax hereditaria; KEFH; Keratoendotheliitis fugax hereditaria; keratoendotheliitis fugax hereditaria; keratoendothelitis fugax hereditaria; keratitis fugax hereditaria
Disease Hierarchy
DISYKSRF: Genetic disease
DISLY3V2: Keratitis fugax hereditaria
Disease Identifiers
MONDO ID
MONDO_0007849
MESH ID
C563650
UMLS CUI
C1835697
OMIM ID
148200
MedGen ID
372107

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
NLRP3 TT4EN8X Limited Autosomal dominant [1]
NLRP3 TT4EN8X moderate 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
NLRP3 OTZM6MHU 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 Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.Am J Ophthalmol. 2018 Apr;188:41-50. doi: 10.1016/j.ajo.2018.01.017. Epub 2018 Jan 31.