WAD
MCID: WYR002
MIFTS: 36

Weyers Acrofacial Dysostosis (WAD)

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

Aliases & Classifications for Weyers Acrofacial Dysostosis

MalaCards integrated aliases for Weyers Acrofacial Dysostosis:

Name: Weyers Acrofacial Dysostosis 58 54 26 60 76 74
Curry-Hall Syndrome 58 26 60 76 30 6
Weyers Acrodental Dysostosis 26 60 38 13 41
Acrodental Dysostosis of Weyers 58 26 76
Acrofacial Dysostosis, Weyers Type 60 76
Wad 58 76
Acrofacial Dysostosis of Weyers 54
Curry Hall Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
acrofacial dysostosis, weyers type
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to ellis-van creveld syndrome


HPO:

33
weyers acrofacial dysostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 193530
KEGG 38 H02158
MeSH 45 D004413
MESH via Orphanet 46 C536695
ICD10 via Orphanet 35 Q75.4
UMLS via Orphanet 75 C0457013
Orphanet 60 ORPHA952
MedGen 43 C0457013
UMLS 74 C0457013

Summaries for Weyers Acrofacial Dysostosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 952Disease definitionAcrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Weyers Acrofacial Dysostosis, also known as curry-hall syndrome, is related to acrofacial dysostosis and dysostosis. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways/superpathways are Hedgehog signaling pathway and Signaling by Hedgehog. Affiliated tissues include skin, kidney and eye, and related phenotypes are nail dystrophy and hypoplastic toenails

Genetics Home Reference : 26 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).

OMIM : 58 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 : 76 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

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 30.5 EVC EVC2
2 dysostosis 30.5 EVC EVC2
3 ellis-van creveld syndrome 30.4 EVC EVC2
4 whiplash 10.8
5 cystic kidney disease 10.2
6 fish-eye disease 10.0
7 migraine with or without aura 1 10.0
8 malaria 10.0
9 plasmodium falciparum malaria 10.0
10 cryptosporidiosis 10.0
11 volkmann contracture 10.0
12 compartment syndrome 10.0
13 chronic fatigue syndrome 10.0
14 pain - chronic 10.0
15 polydactyly, postaxial, type a1 9.8 EVC EVC2
16 clouston syndrome 9.7 EVC EVC2
17 short-rib thoracic dysplasia 6 with or without polydactyly 9.7 EVC EVC2
18 atrioventricular septal defect 9.7 EVC EVC2
19 heart disease 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

Human phenotypes related to Weyers Acrofacial Dysostosis:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008404
2 hypoplastic toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800
3 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
4 advanced eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006288
5 postaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001162
6 abnormal oral frenulum morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000190
7 single median maxillary incisor 60 33 hallmark (90%) Very frequent (99-80%) HP:0006315
8 toenail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100797
9 conical tooth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000698
10 mild short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003502
11 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
12 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
13 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
14 abnormality of the antihelix 60 33 frequent (33%) Frequent (79-30%) HP:0009738
15 facial cleft 60 33 frequent (33%) Frequent (79-30%) HP:0002006
16 overlapping fingers 60 33 frequent (33%) Frequent (79-30%) HP:0010557
17 small nail 60 33 Very frequent (99-80%) HP:0001792
18 abnormality of the dentition 60 Very frequent (99-80%)
19 short palm 33 HP:0004279
20 abnormality of the fingernails 60 Very frequent (99-80%)
21 brachydactyly 33 HP:0001156
22 nail dysplasia 33 HP:0002164
23 hypotelorism 33 HP:0000601
24 postaxial foot polydactyly 33 HP:0001830
25 abnormal toenail morphology 60 Very frequent (99-80%)
26 prominent antihelix 33 HP:0000395

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypotelorism

Skeletal Feet:
postaxial polydactyly

Growth Height:
short stature, mild

Head And Neck Mouth:
multiple frenula

Skeletal Skull:
cleft of mandibular symphysis (infancy)

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

Skin Nails Hair Nails:
hypoplastic nails
dysplastic nails

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

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 30 EVC EVC2

Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

42
Skin, Kidney, Eye

Publications for Weyers Acrofacial Dysostosis

Articles related to Weyers Acrofacial Dysostosis:

# Title Authors Year
1
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. ( 23220543 )
2013
2
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. ( 19810119 )
2009
3
Polydactyly with ectodermal defect, osteopenia, and mental delay. ( 18182642 )
2008
4
Ellis-van Creveld and Weyers acrofacial dysostosis. ( 17942330 )
2007
5
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. ( 16404586 )
2006
6
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. ( 10700184 )
2000
7
Symptomatic heterozygosity in the Ellis-van Creveld syndrome? ( 7628126 )
1995
8
Brief clinical report: Curry-Hall syndrome. ( 6711608 )
1984

Variations for Weyers Acrofacial Dysostosis

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

76
# Symbol AA change Variation ID SNP ID
1 EVC p.Ser307Pro VAR_009944 rs121908426

ClinVar genetic disease variations for Weyers Acrofacial Dysostosis:

6 (show top 50) (show all 478)
# Gene Variation Type Significance SNP ID Assembly Location
1 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh37 Chromosome 4, 5642516: 5642516
2 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh38 Chromosome 4, 5640789: 5640789
3 EVC2 NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs) deletion Pathogenic rs587776568 GRCh37 Chromosome 4, 5564709: 5564709
4 EVC2 NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs) deletion Pathogenic rs587776568 GRCh38 Chromosome 4, 5562982: 5562982
5 EVC NM_153717.2(EVC): c.1328G> A (p.Arg443Gln) single nucleotide variant Benign rs35953626 GRCh37 Chromosome 4, 5755524: 5755524
6 EVC NM_153717.2(EVC): c.1328G> A (p.Arg443Gln) single nucleotide variant Benign rs35953626 GRCh38 Chromosome 4, 5753797: 5753797
7 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121908426 GRCh37 Chromosome 4, 5747048: 5747048
8 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121908426 GRCh38 Chromosome 4, 5745321: 5745321
9 EVC2 EVC2, 3797T-G, LEU1266TER single nucleotide variant Pathogenic
10 EVC2 EVC2, 3797T-A, LEU1266TER single nucleotide variant Pathogenic
11 EVC2 NM_147127.5(EVC2): c.3805G> T (p.Gly1269Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 5564697: 5564697
12 EVC2 NM_147127.5(EVC2): c.3805G> T (p.Gly1269Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 5562970: 5562970
13 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh37 Chromosome 4, 5755542: 5755542
14 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh38 Chromosome 4, 5753815: 5753815
15 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh37 Chromosome 4, 5755516: 5755516
16 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh38 Chromosome 4, 5753789: 5753789
17 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh37 Chromosome 4, 5710119: 5710119
18 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh38 Chromosome 4, 5708392: 5708392
19 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh37 Chromosome 4, 5713115: 5713115
20 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh38 Chromosome 4, 5711388: 5711388
21 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh37 Chromosome 4, 5642347: 5642347
22 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh38 Chromosome 4, 5640620: 5640620
23 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh37 Chromosome 4, 5795384: 5795384
24 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh38 Chromosome 4, 5793657: 5793657
25 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh37 Chromosome 4, 5795413: 5795413
26 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh38 Chromosome 4, 5793686: 5793686
27 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh37 Chromosome 4, 5624614: 5624614
28 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh38 Chromosome 4, 5622887: 5622887
29 EVC2 NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751356206 GRCh37 Chromosome 4, 5624502: 5624502
30 EVC2 NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751356206 GRCh38 Chromosome 4, 5622775: 5622775
31 EVC NM_153717.2(EVC): c.284A> G (p.Asp95Gly) single nucleotide variant Benign/Likely benign rs41269547 GRCh37 Chromosome 4, 5721084: 5721084
32 EVC NM_153717.2(EVC): c.284A> G (p.Asp95Gly) single nucleotide variant Benign/Likely benign rs41269547 GRCh38 Chromosome 4, 5719357: 5719357
33 EVC2 NM_147127.4(EVC2): c.3557+10G> A single nucleotide variant Benign/Likely benign rs116218656 GRCh37 Chromosome 4, 5570161: 5570161
34 EVC2 NM_147127.4(EVC2): c.3557+10G> A single nucleotide variant Benign/Likely benign rs116218656 GRCh38 Chromosome 4, 5568434: 5568434
35 EVC NM_153717.2(EVC): c.473C> G (p.Ser158Cys) single nucleotide variant Benign/Likely benign rs150284356 GRCh37 Chromosome 4, 5733240: 5733240
36 EVC NM_153717.2(EVC): c.473C> G (p.Ser158Cys) single nucleotide variant Benign/Likely benign rs150284356 GRCh38 Chromosome 4, 5731513: 5731513
37 EVC NM_153717.2(EVC): c.469C> G (p.Pro157Ala) single nucleotide variant Likely benign rs146729456 GRCh37 Chromosome 4, 5733236: 5733236
38 EVC NM_153717.2(EVC): c.469C> G (p.Pro157Ala) single nucleotide variant Likely benign rs146729456 GRCh38 Chromosome 4, 5731509: 5731509
39 EVC NM_153717.2(EVC): c.769C> T (p.Leu257=) single nucleotide variant Benign rs6446393 GRCh37 Chromosome 4, 5743509: 5743509
40 EVC NM_153717.2(EVC): c.769C> T (p.Leu257=) single nucleotide variant Benign rs6446393 GRCh38 Chromosome 4, 5741782: 5741782
41 EVC NM_153717.2(EVC): c.772T> C (p.Tyr258His) single nucleotide variant Benign rs6414624 GRCh37 Chromosome 4, 5743512: 5743512
42 EVC NM_153717.2(EVC): c.772T> C (p.Tyr258His) single nucleotide variant Benign rs6414624 GRCh38 Chromosome 4, 5741785: 5741785
43 EVC NM_153717.2(EVC): c.780G> A (p.Lys260=) single nucleotide variant Benign rs41269555 GRCh37 Chromosome 4, 5743520: 5743520
44 EVC NM_153717.2(EVC): c.780G> A (p.Lys260=) single nucleotide variant Benign rs41269555 GRCh38 Chromosome 4, 5741793: 5741793
45 EVC NM_153717.2(EVC): c.1127C> T (p.Ala376Val) single nucleotide variant Benign/Likely benign rs142535134 GRCh37 Chromosome 4, 5754591: 5754591
46 EVC NM_153717.2(EVC): c.1127C> T (p.Ala376Val) single nucleotide variant Benign/Likely benign rs142535134 GRCh38 Chromosome 4, 5752864: 5752864
47 EVC2 NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala) single nucleotide variant Benign/Likely benign rs73063795 GRCh37 Chromosome 4, 5642327: 5642327
48 EVC2 NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala) single nucleotide variant Benign/Likely benign rs73063795 GRCh38 Chromosome 4, 5640600: 5640600
49 EVC2 NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu) single nucleotide variant Benign/Likely benign rs60809236 GRCh38 Chromosome 4, 5584657: 5584657
50 EVC2 NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu) single nucleotide variant Benign/Likely benign rs60809236 GRCh37 Chromosome 4, 5586384: 5586384

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 KEGG:

38
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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