MCID: WYR002
MIFTS: 37

Weyers Acrofacial Dysostosis

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

Aliases & Classifications for Weyers Acrofacial Dysostosis

MalaCards integrated aliases for Weyers Acrofacial Dysostosis:

Name: Weyers Acrofacial Dysostosis 54 50 24 24 25 56 71 69
Curry-Hall Syndrome 24 25 56 71 29
Weyers Acrodental Dysostosis 24 25 56 13
Acrodental Dysostosis of Weyers 24 25 71
Acrofacial Dysostosis, Weyers Type 56 71
Acrofacial Dysostosis of Weyers 50
Curry Hall Syndrome 50
Wad 71

Characteristics:

Orphanet epidemiological data:

56
acrofacial dysostosis, weyers type
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
allelic to ellis-van creveld syndrome


HPO:

32
weyers acrofacial dysostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 193530
Orphanet 56 ORPHA952
MESH via Orphanet 43 C536695
UMLS via Orphanet 70 C0457013
ICD10 via Orphanet 34 Q75.4
MedGen 40 C0457013
MeSH 42 D004413

Summaries for Weyers Acrofacial Dysostosis

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 curry-hall syndrome, is related to whiplash and acrofacial dysostosis, and has symptoms including hypoplastic toenails, hypodontia and overlapping fingers. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways/superpathways are Signaling by Hedgehog and Hedgehog Pathway. Affiliated tissues include bone, heart and skin.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on ectodermal dysplasia.

UniProtKB/Swiss-Prot : 71 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 : 54
Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997). (193530)

Related Diseases for Weyers Acrofacial Dysostosis

Diseases related to Weyers Acrofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
id Related Disease Score Top Affiliating Genes
1 whiplash 10.5
2 acrofacial dysostosis 10.3
3 dysostosis 10.3
4 cervicitis 9.9
5 chronic pain 9.8
6 primary lateral sclerosis, adult, 1 9.7 EVC EVC2
7 hypothalamic hamartomas, somatic 9.7 EVC EVC2
8 chromosomal deletion syndrome 9.7 EVC EVC2
9 epidermolysis bullosa, nonspecific, autosomal recessive 9.6 EVC EVC2
10 dementia, familial british 9.6 EVC EVC2
11 fetal alcohol syndrome 9.5 EVC EVC2
12 myopathy, myofibrillar, 7 9.4 EVC EVC2
13 telogen effluvium 9.2 EVC EVC2

Graphical network of the top 20 diseases related to Weyers Acrofacial Dysostosis:



Diseases related to Weyers Acrofacial Dysostosis

Symptoms & Phenotypes for Weyers Acrofacial Dysostosis

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
hypoplastic nails
dysplastic nails

Growth- Height:
short stature, mild

Head And Neck- Eyes:
hypotelorism

Head And Neck- Mouth:
multiple frenula

Skeletal- Skull:
cleft of mandibular symphysis (infancy)

Skeletal- Hands:
short hands
fifth finger clinodactyly
postaxial polydactyly
mild brachydactyly

Skeletal- Feet:
postaxial polydactyly

Head And Neck- Ears:
prominent antihelix

Head And Neck- Teeth:
single central incisor
conical teeth (permanent teeth)
irregular, small, or absent incisors (permanent teeth)


Clinical features from OMIM:

193530

Human phenotypes related to Weyers Acrofacial Dysostosis:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic toenails 56 32 hallmark (90%) Very frequent (99-80%) HP:0001800
2 hypodontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000668
3 overlapping fingers 56 32 frequent (33%) Frequent (79-30%) HP:0010557
4 nail dystrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008404
5 small hand 56 32 frequent (33%) Frequent (79-30%) HP:0200055
6 facial cleft 56 32 frequent (33%) Frequent (79-30%) HP:0002006
7 abnormality of the fingernails 56 32 hallmark (90%) Very frequent (99-80%) HP:0001231
8 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
9 small nail 56 32 Very frequent (99-80%) HP:0001792
10 abnormality of the antihelix 56 32 frequent (33%) Frequent (79-30%) HP:0009738
11 advanced eruption of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0006288
12 postaxial hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001162
13 abnormality of oral frenula 56 32 hallmark (90%) Very frequent (99-80%) HP:0000190
14 single median maxillary incisor 56 32 hallmark (90%) Very frequent (99-80%) HP:0006315
15 conical tooth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000698
16 mild short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003502
17 toenail dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100797
18 brachydactyly 32 HP:0001156
19 hypotelorism 32 HP:0000601
20 prominent antihelix 32 HP:0000395
21 nail dysplasia 32 HP:0002164
22 abnormality of the teeth 56 Very frequent (99-80%)
23 short palm 32 HP:0004279
24 postaxial foot polydactyly 32 HP:0001830
25 abnormality of the toenails 56 Very frequent (99-80%)

Drugs & Therapeutics for Weyers Acrofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Weyers Acrofacial Dysostosis

Genetic Tests for Weyers Acrofacial Dysostosis

Genetic tests related to Weyers Acrofacial Dysostosis:

id Genetic test Affiliating Genes
1 Curry-Hall Syndrome 29
2 Weyers Acrofacial Dysostosis 24 EVC
3 Weyers Acrodental Dysostosis 24 EVC2

Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

39
Bone, Heart, Skin

Publications for Weyers Acrofacial Dysostosis

Articles related to Weyers Acrofacial Dysostosis:

id Title Authors Year
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

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

71
id Symbol AA change Variation ID SNP ID
1 EVC p.Ser307Pro VAR_009944 rs121908426

ClinVar genetic disease variations for Weyers Acrofacial Dysostosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EVC2 NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs) deletion Pathogenic rs587776568 GRCh37 Chromosome 4, 5564709: 5564709
2 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic rs121908426 GRCh37 Chromosome 4, 5747048: 5747048
3 EVC2 EVC2, 3797T-G, LEU1266TER single nucleotide variant Pathogenic
4 EVC2 EVC2, 3797T-A, LEU1266TER single nucleotide variant Pathogenic
5 EVC2 EVC2, GLY1269TER single nucleotide variant Pathogenic

Expression for Weyers Acrofacial Dysostosis

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

Pathways for Weyers Acrofacial Dysostosis

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 EVC EVC2
2
Show member pathways
10.73 EVC EVC2

GO Terms for Weyers Acrofacial Dysostosis

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

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.16 EVC EVC2
2 cilium GO:0005929 8.96 EVC EVC2
3 ciliary membrane GO:0060170 8.62 EVC EVC2

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

id Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 8.62 EVC EVC2

Sources for Weyers Acrofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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