Details of Disease | DrugMAP

General Information of Disease (ID: DISYHJ2P)

Disease Name	Craniofacial microsomia
Synonyms	OAVD; Fav sequence; oculo-auriculo-vertebral dysplasia; facioauriculovertebral sequence; oculoauriculovertebral syndrome; Expanded spectrum hemifacial microsomia; unilateral or bilateral and asymmetric otomandibular dysplasia; first and second branchial arch syndrome; oculoauriculovertebral dysplasia; first arch syndrome; Goldenhar disease; HFM; facio-auriculo-vertebral spectrum; Laterofacial microsomia; oculo-auriculo-vertebral spectrum; facioauriculovertebral dysplasia; otomandibular syndrome; oculoauriculovertebral spectrum; OAVS; OAV (oculoauriculovertebral) dysplasia; OAV spectrum; Expanded spectrum of hemifacial microsomia; Goldenhar syndrome; first branchial arch syndrome; OAV dysplasia; hemifacial microsomia
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS0SIK5: Oculoauriculovertebral spectrum with radial defects DIS2IQBH: Neurocristopathy DISYHJ2P: Craniofacial microsomia
Disease Identifiers	MONDO ID MONDO_0015397 MESH ID D006053 UMLS CUI C0265240 OMIM ID 164210 MedGen ID 75554 Orphanet ID 141132 SNOMED CT ID 1010685005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMIGO2	OTPAIT1O	Limited	Autosomal dominant	[1]
RAB18	OTNMAQLS	moderate	Biomarker	[2]
AGAP1	OTVX8835	Strong	Genetic Variation	[3]
ARID3B	OTUP9MS4	Strong	Genetic Variation	[3]
EFTUD2	OT3X7QG2	Strong	Genetic Variation	[4]
FRMD4A	OTJDTIK2	Strong	Genetic Variation	[3]
MYT1	OTC3660I	Strong	GermlineCausalMutation	[5]
NID2	OTHC33FF	Strong	Genetic Variation	[3]
OTX2	OTTV05B1	Strong	Biomarker	[6]
PARD3B	OTGZ43YI	Strong	Genetic Variation	[3]
SALL1	OTYYZGLH	Strong	Genetic Variation	[7]
SHROOM3	OTQKC5X2	Strong	Genetic Variation	[3]
TBC1D20	OTDL1T6E	Strong	Biomarker	[8]
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⏷ Show the Full List of 13 DOT(s)

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	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.
3	Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia.Nat Commun. 2016 Feb 8;7:10605. doi: 10.1038/ncomms10605.
4	EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173.
5	Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.J Med Genet. 2016 Nov;53(11):752-760. doi: 10.1136/jmedgenet-2016-103774. Epub 2016 Jun 29.
6	OTX2 duplication is implicated in hemifacial microsomia.PLoS One. 2014 May 9;9(5):e96788. doi: 10.1371/journal.pone.0096788. eCollection 2014.
7	Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.Am J Med Genet A. 2007 May 15;143A(10):1087-90. doi: 10.1002/ajmg.a.31700.
8	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.