Details of Disease | DrugMAP

General Information of Disease (ID: DISA9EM1)

Disease Name	Acrofacial dysostosis, Weyers type
Synonyms	acrodental dysostosis of Weyers; curry Hall syndrome; wad; acrofacial dysostosis of Weyers; Weyers acrofacial dysostosis; Weyers acrodental dysostosis; curry-Hall syndrome
Definition	Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
Disease Hierarchy	DISNBM5T: Acrofacial dysostosis DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISLRS4M: Ectodermal dysplasia DISA9EM1: Acrofacial dysostosis, Weyers type
Disease Identifiers	MONDO ID MONDO_0008673 MESH ID C536695 UMLS CUI C0457013 OMIM ID 193530 MedGen ID 141594 Orphanet ID 952 SNOMED CT ID 277807007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CRMP1	DE0EUXB	Strong	CausalMutation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EVC	OTRVYMXJ	Definitive	Autosomal recessive	[2]
EVC2	OTY0M5SD	Definitive	Autosomal recessive	[3]
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References

1	Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.
2	A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. 2002 Dec;77(4):291-5. doi: 10.1016/s1096-7192(02)00178-6.
3	A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Hum Genet. 2006 Mar;119(1-2):199-205. doi: 10.1007/s00439-005-0129-2. Epub 2006 Jan 11.