Weyers Acrofacial Dysostosis (WAD)

Alias:
Curry-Hall Syndrome
Weyers Acrodental Dysostosis
Acrofacial Dysostosis, Weyers Type
Acrodental Dysostosis of Weyers
Wad
Acrofacial Dysostosis Weyers Type
Dysostosis, Acrodental, Weyers
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Weyers Acrofacial Dysostosis, also known as curry-hall syndrome, is related to ellis-van creveld syndrome and mckusick-kaufman syndrome. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone and skin, and related phenotypes are abnormality of the dentition and hypoplastic toenails
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
35
196
45

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
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Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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