WAD
MCID: WYR002
MIFTS: 36

Weyers Acrofacial Dysostosis (WAD) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Weyers Acrofacial Dysostosis

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Weyers Acrofacial Dysostosis:

Name: Weyers Acrofacial Dysostosis 52 48 24 25 54 70 68
Weyers Acrodental Dysostosis 52 24 25 54 12
Curry-Hall Syndrome 24 25 54 70 27
Acrodental Dysostosis of Weyers 24 25 70
 
Acrofacial Dysostosis, Weyers Type 54 70
Acrofacial Dysostosis of Weyers 48
Curry Hall Syndrome 48
Wad 70

Characteristics:

Orphanet epidemiological data:

54
weyers acrofacial dysostosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal

HPO:

64
weyers acrofacial dysostosis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 193530
Orphanet54 ORPHA952
MESH via Orphanet40 C536695
UMLS via Orphanet69 C0457013
ICD10 via Orphanet31 Q75.4
MedGen37 C0457013
MeSH39 D004413

Summaries for Weyers Acrofacial Dysostosis

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Genetics Home Reference:25 Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).

MalaCards based summary: Weyers Acrofacial Dysostosis, also known as weyers acrodental dysostosis, is related to whiplash and acrofacial dysostosis, and has symptoms including Array, Array and Array. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways are Signaling by Hedgehog and Hedgehog Pathway. Affiliated tissues include bone, heart and skin.

OMIM:52 Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial... (193530) more...

UniProtKB/Swiss-Prot:70 Acrofacial dysostosis, Weyers type: An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.

Related Diseases for Weyers Acrofacial Dysostosis

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Graphical network of diseases related to Weyers Acrofacial Dysostosis:



Diseases related to weyers acrofacial dysostosis

Symptoms & Phenotypes for Weyers Acrofacial Dysostosis

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Symptoms by clinical synopsis from OMIM:

193530

Clinical features from OMIM:

193530

Human phenotypes related to Weyers Acrofacial Dysostosis:

 54 64 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth54 Very frequent (99-80%)
2 abnormality of oral frenula64 54 Very frequent (99-80%) HP:0000190
3 hypodontia64 54 Very frequent (99-80%) HP:0000668
4 conical tooth64 54 Very frequent (99-80%) HP:0000698
5 postaxial hand polydactyly64 54 Very frequent (99-80%) HP:0001162
6 abnormality of the fingernails64 54 Very frequent (99-80%) HP:0001231
7 small nail64 54 Very frequent (99-80%) HP:0001792
8 hypoplastic toenails64 54 Very frequent (99-80%) HP:0001800
9 facial cleft64 54 Frequent (79-30%) HP:0002006
10 mild short stature64 54 Very frequent (99-80%) HP:0003502
11 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
12 advanced eruption of teeth64 54 Very frequent (99-80%) HP:0006288
13 single median maxillary incisor64 54 Very frequent (99-80%) HP:0006315
14 abnormality of the toenails54 Very frequent (99-80%)
15 nail dystrophy64 54 Very frequent (99-80%) HP:0008404
16 abnormality of the antihelix64 54 Frequent (79-30%) HP:0009738
17 overlapping fingers64 54 Frequent (79-30%) HP:0010557
18 toenail dysplasia64 54 Very frequent (99-80%) HP:0100797
19 small hand64 54 Frequent (79-30%) HP:0200055
20 prominent antihelix64 HP:0000395
21 hypotelorism64 HP:0000601
22 brachydactyly syndrome64 HP:0001156
23 postaxial foot polydactyly64 HP:0001830
24 nail dysplasia64 HP:0002164
25 short palm64 HP:0004279

Drugs & Therapeutics for Weyers Acrofacial Dysostosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Weyers Acrofacial Dysostosis

Genetic Tests for Weyers Acrofacial Dysostosis

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Genetic tests related to Weyers Acrofacial Dysostosis:

id Genetic test Affiliating Genes
1 Curry-Hall Syndrome27
2 Weyers Acrodental Dysostosis24 EVC2
3 Weyers Acrofacial Dysostosis24 EVC

Anatomical Context for Weyers Acrofacial Dysostosis

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MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

36
Bone, Heart, Skin

Publications for Weyers Acrofacial Dysostosis

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Articles related to Weyers Acrofacial Dysostosis:

idTitleAuthorsYear
1
Ellis-van Creveld and Weyers acrofacial dysostosis. (17942330)
2007
2
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. (16404586)
2006

Variations for Weyers Acrofacial Dysostosis

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UniProtKB/Swiss-Prot genetic disease variations for Weyers Acrofacial Dysostosis:

70
id Symbol AA change Variation ID SNP ID
1EVCp.Ser307ProVAR_009944rs121908426

Clinvar genetic disease variations for Weyers Acrofacial Dysostosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EVC2EVC2, 3797T-G, LEU1266TERSNVPathogenic
2EVC2EVC2, 3797T-A, LEU1266TERSNVPathogenic
3EVC2EVC2, GLY1269TERSNVPathogenic
4EVC2NM_ 147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs)deletionPathogenicrs587776568GRCh37Chr 4, 5564709: 5564709
5EVCNM_ 153717.2(EVC): c.919T> C (p.Ser307Pro)SNVPathogenicrs121908426GRCh37Chr 4, 5747048: 5747048

Expression for genes affiliated with Weyers Acrofacial Dysostosis

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Search GEO for disease gene expression data for Weyers Acrofacial Dysostosis.

Pathways for genes affiliated with Weyers Acrofacial Dysostosis

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Pathways related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1EVC, EVC2
2
Show member pathways
9.1EVC, EVC2

GO Terms for genes affiliated with Weyers Acrofacial Dysostosis

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Cellular components related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell projectionGO:00429959.8EVC, EVC2
2ciliary membraneGO:00601709.7EVC, EVC2
3ciliumGO:00059299.1EVC, EVC2

Biological processes related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1smoothened signaling pathwayGO:00072249.1EVC, EVC2

Sources for Weyers Acrofacial Dysostosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet