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, 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 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.

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.

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

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 & 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:

 64 54 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postaxial hand polydactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001162
2 abnormality of the fingernails64 54 hallmark (90%) Very frequent (99-80%) HP:0001231
3 hypoplastic toenails64 54 hallmark (90%) Very frequent (99-80%) HP:0001800
4 short stature64 hallmark (90%) HP:0004322
5 advanced eruption of teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0006288
6 abnormality of dental morphology64 hallmark (90%) HP:0006482
7 reduced number of teeth64 hallmark (90%) HP:0009804
8 facial cleft64 54 typical (50%) Frequent (79-30%) HP:0002006
9 clinodactyly of the 5th finger64 54 typical (50%) Frequent (79-30%) HP:0004209
10 short palm64 typical (50%) HP:0004279
11 abnormality of the antihelix64 54 typical (50%) Frequent (79-30%) HP:0009738
12 prominent antihelix64 HP:0000395
13 hypotelorism64 HP:0000601
14 conical tooth64 54 Very frequent (99-80%) HP:0000698
15 brachydactyly syndrome64 HP:0001156
16 small nail64 54 Very frequent (99-80%) HP:0001792
17 postaxial foot polydactyly64 HP:0001830
18 nail dysplasia64 HP:0002164
19 mild short stature64 54 Very frequent (99-80%) HP:0003502
20 single median maxillary incisor64 54 Very frequent (99-80%) HP:0006315
21 abnormality of the teeth54 Very frequent (99-80%)
22 abnormality of oral frenula54 Very frequent (99-80%)
23 hypodontia54 Very frequent (99-80%)
24 abnormality of the toenails54 Very frequent (99-80%)
25 nail dystrophy54 Very frequent (99-80%)
26 overlapping fingers54 Frequent (79-30%)
27 toenail dysplasia54 Very frequent (99-80%)
28 small hand54 Frequent (79-30%)

MGI Mouse Phenotypes related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.8EVC, EVC2
2MP:00053719.1EVC, EVC2

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, 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:00601709.7EVC, EVC2
2ciliumGO: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