Details of Disease

General Information of Disease (ID: DISZJB3G)

Disease Name Otofaciocervical syndrome 1
Synonyms OFC1; OTFCS; OFC; otofaciocervical syndrome; EYA1 otofaciocervical syndrome; otofaciocervical syndrome 1; otofaciocervical syndrome caused by mutation in EYA1
Definition Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.
Disease Hierarchy
DISLYABR: Otofaciocervical syndrome
DISZJB3G: Otofaciocervical syndrome 1
Disease Identifiers
MONDO ID
MONDO_0024532
UMLS CUI
C3714941
OMIM ID
166780
MedGen ID
811516

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EYA1 OTHU807A Limited Autosomal dominant [1]
EYA4 OTINGR3Z Strong Biomarker [2]
PAX1 OT0Y3MIM Strong Autosomal recessive [3]
PNRC1 OTQMLEE1 Strong Genetic Variation [4]
------------------------------------------------------------------------------------

References

1 Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. Ann Hum Genet. 2006 Jan;70(Pt 1):140-4. doi: 10.1111/j.1529-8817.2005.00204.x.
2 Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome.Front Genet. 2019 Jul 18;10:650. doi: 10.3389/fgene.2019.00650. eCollection 2019.
3 A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Clin Genet. 2017 Dec;92(6):664-668. doi: 10.1111/cge.13085. Epub 2017 Oct 24.
4 Association analysis of the poliovirus receptor related-2 gene in patients with nonsyndromic cleft lip with or without cleft palate.DNA Cell Biol. 2010 Nov;29(11):681-5. doi: 10.1089/dna.2010.1061. Epub 2010 Jul 27.