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 bone and skin, 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 20)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 30.5 EVC2 EVC
2 dysostosis 30.5 EVC2 EVC
3 ellis-van creveld syndrome 30.4 EVC2 EVC
4 whiplash 10.8
5 cystic kidney disease 10.1
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 hemorrhagic fever 10.0
15 pain - chronic 10.0
16 polydactyly, postaxial, type a1 9.8 EVC2 EVC
17 clouston syndrome 9.7 EVC2 EVC
18 short-rib thoracic dysplasia 6 with or without polydactyly 9.7 EVC2 EVC
19 atrioventricular septal defect 9.7 EVC2 EVC
20 heart disease 9.5 EVC2 EVC

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 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231
4 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
5 advanced eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006288
6 postaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001162
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 oral frenulum morphology 33 hallmark (90%) HP:0000190
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 brachydactyly 33 HP:0001156
21 nail dysplasia 33 HP:0002164
22 hypotelorism 33 HP:0000601
23 postaxial foot polydactyly 33 HP:0001830
24 abnormality of oral frenula 60 Very frequent (99-80%)
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
Bone, 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
3
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 468)
# Gene Variation Type Significance SNP ID Assembly Location
1 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh37 Chromosome 4, 5755542: 5755542
2 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh38 Chromosome 4, 5753815: 5753815
3 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh37 Chromosome 4, 5755516: 5755516
4 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh38 Chromosome 4, 5753789: 5753789
5 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh37 Chromosome 4, 5710119: 5710119
6 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh38 Chromosome 4, 5708392: 5708392
7 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh37 Chromosome 4, 5713115: 5713115
8 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh38 Chromosome 4, 5711388: 5711388
9 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh37 Chromosome 4, 5642347: 5642347
10 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh38 Chromosome 4, 5640620: 5640620
11 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh37 Chromosome 4, 5795384: 5795384
12 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh38 Chromosome 4, 5793657: 5793657
13 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh37 Chromosome 4, 5795413: 5795413
14 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh38 Chromosome 4, 5793686: 5793686
15 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh37 Chromosome 4, 5624614: 5624614
16 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh38 Chromosome 4, 5622887: 5622887
17 EVC NM_153717.2(EVC): c.284A> G (p.Asp95Gly) single nucleotide variant Benign/Likely benign rs41269547 GRCh37 Chromosome 4, 5721084: 5721084
18 EVC NM_153717.2(EVC): c.284A> G (p.Asp95Gly) single nucleotide variant Benign/Likely benign rs41269547 GRCh38 Chromosome 4, 5719357: 5719357
19 EVC2 NM_147127.4(EVC2): c.3557+10G> A single nucleotide variant Benign/Likely benign rs116218656 GRCh37 Chromosome 4, 5570161: 5570161
20 EVC2 NM_147127.4(EVC2): c.3557+10G> A single nucleotide variant Benign/Likely benign rs116218656 GRCh38 Chromosome 4, 5568434: 5568434
21 EVC NM_153717.2(EVC): c.473C> G (p.Ser158Cys) single nucleotide variant Benign/Likely benign rs150284356 GRCh37 Chromosome 4, 5733240: 5733240
22 EVC NM_153717.2(EVC): c.473C> G (p.Ser158Cys) single nucleotide variant Benign/Likely benign rs150284356 GRCh38 Chromosome 4, 5731513: 5731513
23 EVC NM_153717.2(EVC): c.469C> G (p.Pro157Ala) single nucleotide variant Likely benign rs146729456 GRCh37 Chromosome 4, 5733236: 5733236
24 EVC NM_153717.2(EVC): c.469C> G (p.Pro157Ala) single nucleotide variant Likely benign rs146729456 GRCh38 Chromosome 4, 5731509: 5731509
25 EVC NM_153717.2(EVC): c.769C> T (p.Leu257=) single nucleotide variant Benign rs6446393 GRCh37 Chromosome 4, 5743509: 5743509
26 EVC NM_153717.2(EVC): c.769C> T (p.Leu257=) single nucleotide variant Benign rs6446393 GRCh38 Chromosome 4, 5741782: 5741782
27 EVC NM_153717.2(EVC): c.772T> C (p.Tyr258His) single nucleotide variant Benign rs6414624 GRCh37 Chromosome 4, 5743512: 5743512
28 EVC NM_153717.2(EVC): c.772T> C (p.Tyr258His) single nucleotide variant Benign rs6414624 GRCh38 Chromosome 4, 5741785: 5741785
29 EVC NM_153717.2(EVC): c.780G> A (p.Lys260=) single nucleotide variant Benign rs41269555 GRCh37 Chromosome 4, 5743520: 5743520
30 EVC NM_153717.2(EVC): c.780G> A (p.Lys260=) single nucleotide variant Benign rs41269555 GRCh38 Chromosome 4, 5741793: 5741793
31 EVC NM_153717.2(EVC): c.1127C> T (p.Ala376Val) single nucleotide variant Benign/Likely benign rs142535134 GRCh37 Chromosome 4, 5754591: 5754591
32 EVC NM_153717.2(EVC): c.1127C> T (p.Ala376Val) single nucleotide variant Benign/Likely benign rs142535134 GRCh38 Chromosome 4, 5752864: 5752864
33 EVC2 NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs) deletion Pathogenic rs587776568 GRCh37 Chromosome 4, 5564709: 5564709
34 EVC2 NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs) deletion Pathogenic rs587776568 GRCh38 Chromosome 4, 5562982: 5562982
35 EVC NM_153717.2(EVC): c.1328G> A (p.Arg443Gln) single nucleotide variant Benign rs35953626 GRCh37 Chromosome 4, 5755524: 5755524
36 EVC NM_153717.2(EVC): c.1328G> A (p.Arg443Gln) single nucleotide variant Benign rs35953626 GRCh38 Chromosome 4, 5753797: 5753797
37 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121908426 GRCh37 Chromosome 4, 5747048: 5747048
38 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121908426 GRCh38 Chromosome 4, 5745321: 5745321
39 EVC2 EVC2, 3797T-G, LEU1266TER single nucleotide variant Pathogenic
40 EVC2 EVC2, 3797T-A, LEU1266TER single nucleotide variant Pathogenic
41 EVC2 NM_147127.5(EVC2): c.3805G> T (p.Gly1269Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 5564697: 5564697
42 EVC2 NM_147127.5(EVC2): c.3805G> T (p.Gly1269Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 5562970: 5562970
43 EVC2 NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala) single nucleotide variant Benign/Likely benign rs73063795 GRCh37 Chromosome 4, 5642327: 5642327
44 EVC2 NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala) single nucleotide variant Benign/Likely benign rs73063795 GRCh38 Chromosome 4, 5640600: 5640600
45 EVC2 NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu) single nucleotide variant Benign/Likely benign rs60809236 GRCh38 Chromosome 4, 5584657: 5584657
46 EVC2 NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu) single nucleotide variant Benign/Likely benign rs60809236 GRCh37 Chromosome 4, 5586384: 5586384
47 EVC2 NM_147127.4(EVC2): c.2235A> G (p.Glu745=) single nucleotide variant Benign rs60121553 GRCh38 Chromosome 4, 5622803: 5622803
48 EVC2 NM_147127.4(EVC2): c.2235A> G (p.Glu745=) single nucleotide variant Benign rs60121553 GRCh37 Chromosome 4, 5624530: 5624530
49 EVC2 NM_147127.4(EVC2): c.2046+5A> G single nucleotide variant Benign rs6850875 GRCh38 Chromosome 4, 5625744: 5625744
50 EVC2 NM_147127.4(EVC2): c.2046+5A> G single nucleotide variant Benign rs6850875 GRCh37 Chromosome 4, 5627471: 5627471

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
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45 MeSH
46 MESH via Orphanet
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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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