MCID: WYR002
MIFTS: 37

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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 66UMLS, 12diseasecard, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Weyers Acrofacial Dysostosis:

Name: Weyers Acrofacial Dysostosis 50 46 23 24 52 68 66
Weyers Acrodental Dysostosis 50 23 24 52 12
Curry-Hall Syndrome 23 24 52 68 25
Acrodental Dysostosis of Weyers 23 24 68
 
Acrofacial Dysostosis, Weyers Type 52 68
Acrofacial Dysostosis of Weyers 46
Curry Hall Syndrome 46
Wad 68

Characteristics:

Orphanet epidemiological data:

52
weyers acrofacial dysostosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal

HPO:

62
weyers acrofacial dysostosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 193530
Orphanet52 ORPHA952
ICD10 via Orphanet29 Q75.4
MESH via Orphanet38 C536695
UMLS via Orphanet67 C0457013
MedGen35 C0457013
MeSH37 D004413

Summaries for Weyers Acrofacial Dysostosis

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Genetics Home Reference:24 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 limbs/digits/tail and craniofacial.

OMIM:50 Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial... (193530) more...

UniProtKB/Swiss-Prot:68 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 12)
idRelated DiseaseScoreTop Affiliating Genes
1whiplash10.6
2acrofacial dysostosis10.4
3dysostosis10.4
4cervicitis10.1
5chronic pain9.9
6primary lateral sclerosis, adult, 19.7EVC, EVC2
7chromosomal deletion syndrome9.6EVC, EVC2
8dementia, familial british9.6EVC, EVC2
9fetal alcohol syndrome9.5EVC, EVC2
10intermittent squint9.5EVC, EVC2
11cranioectodermal dysplasia 19.4EVC, EVC2
12weyers acrofacial dysostosis9.2EVC, 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

Symptoms:

 52 (show all 19)
  • abnormality of the teeth
  • abnormality of oral frenula
  • hypodontia
  • conical tooth
  • postaxial hand polydactyly
  • abnormality of the fingernails
  • small nail
  • hypoplastic toenails
  • facial cleft
  • mild short stature
  • clinodactyly of the 5th finger
  • advanced eruption of teeth
  • single median maxillary incisor
  • abnormality of the toenails
  • nail dystrophy
  • abnormality of the antihelix
  • overlapping fingers
  • toenail dysplasia
  • small hand

HPO human phenotypes related to Weyers Acrofacial Dysostosis:

(show all 23)
id Description Frequency HPO Source Accession
1 postaxial hand polydactyly hallmark (90%) HP:0001162
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 hypoplastic toenails hallmark (90%) HP:0001800
4 short stature hallmark (90%) HP:0004322
5 advanced eruption of teeth hallmark (90%) HP:0006288
6 abnormality of dental morphology hallmark (90%) HP:0006482
7 reduced number of teeth hallmark (90%) HP:0009804
8 facial cleft typical (50%) HP:0002006
9 clinodactyly of the 5th finger typical (50%) HP:0004209
10 short palm typical (50%) HP:0004279
11 abnormality of the antihelix typical (50%) HP:0009738
12 prominent antihelix HP:0000395
13 hypotelorism HP:0000601
14 conical tooth HP:0000698
15 brachydactyly syndrome HP:0001156
16 postaxial hand polydactyly HP:0001162
17 small nail HP:0001792
18 postaxial foot polydactyly HP:0001830
19 nail dysplasia HP:0002164
20 mild short stature HP:0003502
21 clinodactyly of the 5th finger HP:0004209
22 short palm HP:0004279
23 single median maxillary incisor HP:0006315

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 Syndrome25
2 Weyers Acrodental Dysostosis23 EVC2
3 Weyers Acrofacial Dysostosis23 EVC

Anatomical Context for Weyers Acrofacial Dysostosis

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MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

34
Bone, Heart, Skin

Animal Models for Weyers Acrofacial Dysostosis or affiliated genes

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MGI Mouse Phenotypes related to Weyers Acrofacial Dysostosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1EVC, EVC2
2MP:00053828.8EVC, 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:

68
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, LEU1266TERsingle nucleotide variantPathogenic
2EVC2EVC2, 3797T-A, LEU1266TERsingle nucleotide variantPathogenic
3EVC2EVC2, GLY1269TERsingle nucleotide variantPathogenic
4EVC2NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs)deletionPathogenicrs587776568GRCh37Chr 4, 5564709: 5564709
5EVCNM_153717.2(EVC): c.919T> C (p.Ser307Pro)single nucleotide variantPathogenicrs121908426GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet