Details of Disease

General Information of Disease (ID: DISOH38D)

Disease Name Fraser syndrome 1
Synonyms cryptophthalmos with Other malformations; Fraser syndrome; cryptophthalmos-syndactyly syndrome; FRASRS1; Fraser syndrome 1
Disease Hierarchy
DISCLC2B: Fraser syndrome
DISOH38D: Fraser syndrome 1
Disease Identifiers
MONDO ID
MONDO_0054737
UMLS CUI
C4551480
OMIM ID
219000
MedGen ID
1639061

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GRIP1 OT958HK1 Strong Autosomal recessive [1]
FRAS1 OTLPESF3 Definitive Autosomal recessive [2]
FREM2 OTEK6BZR Definitive Autosomal recessive [3]
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References

1 Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17.
2 Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet A. 2008 Feb 15;146A(4):529-31. doi: 10.1002/ajmg.a.32091.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.