Details of Disease | DrugMAP

General Information of Disease (ID: DISCLC2B)

Disease Name	Fraser syndrome
Synonyms	cryptophthalmos with Other malformations; cryptophthalmos syndrome; Ulrich-Feichtiger syndrome; Fraser-Francois syndrome; Meyer-Schwickerath's syndrome; cyclopism; Fraser syndrome; cryptophthalmos with other malformations; cryptophthalmos-syndactyly syndrome
Definition	Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DISUKC3X: Cryptophthalmia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISCLC2B: Fraser syndrome
Disease Identifiers	MONDO ID MONDO_0009046 MESH ID D058497 UMLS CUI C0265233 MedGen ID 82692 Orphanet ID 2052 SNOMED CT ID 204102004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FREM2	OTEK6BZR	Supportive	Autosomal recessive	[1]
GRIP1	OT958HK1	Supportive	Autosomal recessive	[2]
RAB18	OTNMAQLS	moderate	Biomarker	[3]
FREM1	OTMHRV87	Strong	Genetic Variation	[4]
TBC1D20	OTDL1T6E	Strong	Biomarker	[5]
FRAS1	OTLPESF3	Definitive	Autosomal recessive	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440.
2	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.
3	ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18.Exp Neurol. 2015 May;267:143-51. doi: 10.1016/j.expneurol.2015.03.003. Epub 2015 Mar 13.
4	A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.Hum Mol Genet. 2018 Jul 1;27(13):2357-2366. doi: 10.1093/hmg/ddy144.
5	Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.
6	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.