Details of Disease

General Information of Disease (ID: DISLTC7H)

Disease Name Chitayat syndrome
Synonyms Chitayat syndrome; CHYTS; Chitayat syndrome; CHYTS
Disease Hierarchy
DISYKSRF: Genetic disease
DISLTC7H: Chitayat syndrome
Disease Identifiers
MONDO ID
MONDO_0014956
UMLS CUI
C4310679
OMIM ID
617180
MedGen ID
934646

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
ERF TTGXULC Strong Autosomal dominant [1]
ERF TTGXULC Strong 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
ERF OTGTA85X Strong Autosomal dominant [1]
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References

1 Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13.
2 Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene.Am J Med Genet A. 2019 Jan;179(1):118-122. doi: 10.1002/ajmg.a.60676. Epub 2018 Dec 20.