MCID: WYR002
MIFTS: 36

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 53 49 24 55 71 69
Curry-Hall Syndrome 53 24 55 71 28
Acrodental Dysostosis of Weyers 53 24 71
Weyers Acrodental Dysostosis 24 55 13
Acrofacial Dysostosis, Weyers Type 55 71
Wad 53 71
Acrofacial Dysostosis of Weyers 49
Curry Hall Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
acrofacial dysostosis, weyers type
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to ellis-van creveld syndrome


HPO:

31
weyers acrofacial dysostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 193530
Orphanet 55 ORPHA952
MESH via Orphanet 42 C536695
UMLS via Orphanet 70 C0457013
ICD10 via Orphanet 33 Q75.4
MedGen 39 C0457013
MeSH 41 D004413
UMLS 69 C0457013

Summaries for Weyers Acrofacial Dysostosis

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 curry-hall syndrome, is related to acrofacial dysostosis and dysostosis, and has symptoms including nail dystrophy, hypoplastic toenails and abnormality of the fingernails. 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.

OMIM : 53 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)

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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Ectodermal dysplasia.

Related Diseases for Weyers Acrofacial Dysostosis

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 30.2 EVC EVC2
2 dysostosis 29.6 EVC EVC2
3 whiplash 10.5
4 episodic pain syndrome, familial, 1 10.3
5 cervicitis 10.0
6 aging 9.9
7 chronic pain 9.9
8 polydactyly, postaxial, type a1 9.7 EVC EVC2
9 short-rib thoracic dysplasia 3 with or without polydactyly 9.7 EVC EVC2
10 clouston syndrome 9.7 EVC EVC2
11 short-rib thoracic dysplasia 6 with or without polydactyly 9.7 EVC EVC2
12 atrioventricular septal defect 9.6 EVC EVC2
13 ellis-van creveld syndrome 9.6 EVC EVC2
14 asphyxiating thoracic dystrophy 9.5 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:

53
HeadAndNeckEyes:
hypotelorism

SkeletalFeet:
postaxial polydactyly

GrowthHeight:
short stature, mild

HeadAndNeckMouth:
multiple frenula

SkeletalSkull:
cleft of mandibular symphysis (infancy)

SkeletalHands:
postaxial polydactyly
fifth finger clinodactyly
short hands
mild brachydactyly

SkinNailsHairNails:
hypoplastic nails
dysplastic nails

HeadAndNeckEars:
prominent antihelix

HeadAndNeckTeeth:
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:

55 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008404
2 hypoplastic toenails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001800
3 abnormality of the fingernails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001231
4 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
5 small nail 55 31 Very frequent (99-80%) HP:0001792
6 small hand 55 31 frequent (33%) Frequent (79-30%) HP:0200055
7 abnormality of the antihelix 55 31 frequent (33%) Frequent (79-30%) HP:0009738
8 hypodontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000668
9 advanced eruption of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0006288
10 postaxial hand polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001162
11 facial cleft 55 31 frequent (33%) Frequent (79-30%) HP:0002006
12 single median maxillary incisor 55 31 hallmark (90%) Very frequent (99-80%) HP:0006315
13 overlapping fingers 55 31 frequent (33%) Frequent (79-30%) HP:0010557
14 toenail dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100797
15 conical tooth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000698
16 mild short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003502
17 abnormality of the dentition 55 Very frequent (99-80%)
18 short palm 31 HP:0004279
19 brachydactyly 31 HP:0001156
20 nail dysplasia 31 HP:0002164
21 hypotelorism 31 HP:0000601
22 postaxial foot polydactyly 31 HP:0001830
23 abnormality of oral frenula 55 Very frequent (99-80%)
24 abnormality of the toenails 55 Very frequent (99-80%)
25 prominent antihelix 31 HP:0000395
26 abnormal oral frenulum morphology 31 hallmark (90%) HP:0000190

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:

# Genetic test Affiliating Genes
1 Curry-Hall Syndrome 28 EVC EVC2

Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

38
Bone, Heart, Skin

Publications for Weyers Acrofacial Dysostosis

Articles related to Weyers Acrofacial Dysostosis:

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

ClinVar genetic disease variations for Weyers Acrofacial Dysostosis:

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

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.26 EVC EVC2
2 cilium GO:0005929 9.16 EVC EVC2
3 ciliary membrane GO:0060170 8.96 EVC EVC2
4 plasma membrane protein complex GO:0098797 8.62 EVC EVC2

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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