MCID: WYR002
MIFTS: 36

Weyers Acrofacial Dysostosis 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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Weyers Acrofacial Dysostosis:

Name: Weyers Acrofacial Dysostosis 51 47 24 25 53 69 67
Weyers Acrodental Dysostosis 51 24 25 53 12
Curry-Hall Syndrome 24 25 53 69 26
Acrodental Dysostosis of Weyers 24 25 69
 
Acrofacial Dysostosis, Weyers Type 53 69
Acrofacial Dysostosis of Weyers 47
Curry Hall Syndrome 47
Wad 69

Characteristics:

Orphanet epidemiological data:

53
weyers acrofacial dysostosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal

HPO:

63
weyers acrofacial dysostosis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 193530
Orphanet53 ORPHA952
MESH via Orphanet39 C536695
UMLS via Orphanet68 C0457013
ICD10 via Orphanet30 Q75.4
MedGen36 C0457013
MeSH38 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 postaxial hand polydactyly, abnormality of the fingernails and hypoplastic toenails. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways is Signaling by Hedgehog. Affiliated tissues include bone, heart and skin, and related mouse phenotypes are craniofacial and limbs/digits/tail.

OMIM:51 Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial... (193530) more...

UniProtKB/Swiss-Prot:69 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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Diseases related to Weyers Acrofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1whiplash10.4
2acrofacial dysostosis10.3
3dysostosis10.3
4cervicitis9.9
5chronic pain9.8
6primary lateral sclerosis, adult, 19.7EVC, EVC2
7chromosomal deletion syndrome9.6EVC, EVC2
8dementia, familial british9.6EVC, EVC2
9fetal alcohol syndrome9.5EVC, EVC2
10cranioectodermal dysplasia 19.5EVC, EVC2
11intermittent squint9.3EVC, EVC2

Graphical network of diseases related to Weyers Acrofacial Dysostosis:



Diseases related to weyers acrofacial dysostosis

Symptoms 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:

 63 53 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postaxial hand polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001162
2 abnormality of the fingernails63 53 hallmark (90%) Very frequent (99-80%) HP:0001231
3 hypoplastic toenails63 53 hallmark (90%) Very frequent (99-80%) HP:0001800
4 short stature63 hallmark (90%) HP:0004322
5 advanced eruption of teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0006288
6 abnormality of dental morphology63 hallmark (90%) HP:0006482
7 reduced number of teeth63 hallmark (90%) HP:0009804
8 facial cleft63 53 typical (50%) Frequent (79-30%) HP:0002006
9 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
10 short palm63 typical (50%) HP:0004279
11 abnormality of the antihelix63 53 typical (50%) Frequent (79-30%) HP:0009738
12 prominent antihelix63 HP:0000395
13 hypotelorism63 HP:0000601
14 conical tooth63 53 Very frequent (99-80%) HP:0000698
15 brachydactyly syndrome63 HP:0001156
16 small nail63 53 Very frequent (99-80%) HP:0001792
17 postaxial foot polydactyly63 HP:0001830
18 nail dysplasia63 HP:0002164
19 mild short stature63 53 Very frequent (99-80%) HP:0003502
20 single median maxillary incisor63 53 Very frequent (99-80%) HP:0006315
21 abnormality of the teeth53 Very frequent (99-80%)
22 abnormality of oral frenula53 Very frequent (99-80%)
23 hypodontia53 Very frequent (99-80%)
24 abnormality of the toenails53 Very frequent (99-80%)
25 nail dystrophy53 Very frequent (99-80%)
26 overlapping fingers53 Frequent (79-30%)
27 toenail dysplasia53 Very frequent (99-80%)
28 small hand53 Frequent (79-30%)

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 Syndrome26
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:

35
Bone, Heart, Skin

Animal Models for Weyers Acrofacial Dysostosis or affiliated genes

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MGI Mouse Phenotypes related to Weyers Acrofacial Dysostosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.8EVC, EVC2
2MP:00053719.1EVC, EVC2

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:

69
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, LEU1266TERSNVPathogenicChr na, -1: -1
2EVC2EVC2, 3797T-A, LEU1266TERSNVPathogenicChr na, -1: -1
3EVC2EVC2, GLY1269TERSNVPathogenicChr na, -1: -1
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

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
1ciliary membraneGO:00601709.1EVC, EVC2
2ciliumGO:00059299.0EVC, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet