MCID: WYR002
MIFTS: 35

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 57 53 25 59 75 73
Curry-Hall Syndrome 57 25 59 75 29 6
Weyers Acrodental Dysostosis 25 59 13 40
Acrodental Dysostosis of Weyers 57 25 75
Acrofacial Dysostosis, Weyers Type 59 75
Wad 57 75
Acrofacial Dysostosis of Weyers 53
Curry Hall Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
acrofacial dysostosis, weyers type
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to ellis-van creveld syndrome


HPO:

32
weyers acrofacial dysostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 193530
Orphanet 59 ORPHA952
MESH via Orphanet 45 C536695
UMLS via Orphanet 74 C0457013
ICD10 via Orphanet 34 Q75.4
MedGen 42 C0457013
MeSH 44 D004413
UMLS 73 C0457013

Summaries for Weyers Acrofacial Dysostosis

NIH Rare Diseases : 53 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 Signaling by Hedgehog and Hedgehog Pathway. Affiliated tissues include bone, heart and skin, and related phenotypes are nail dystrophy and hypoplastic toenails

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).

OMIM : 57 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 : 75 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 12)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 29.9 EVC EVC2
2 dysostosis 29.0 EVC EVC2
3 whiplash 10.6
4 cervicitis 10.1
5 aging 9.9
6 chronic pain 9.9
7 polydactyly, postaxial, type a1 9.6 EVC EVC2
8 clouston syndrome 9.5 EVC EVC2
9 short-rib thoracic dysplasia 6 with or without polydactyly 9.5 EVC EVC2
10 atrioventricular septal defect 9.4 EVC EVC2
11 ellis-van creveld syndrome 9.3 EVC EVC2
12 asphyxiating thoracic dystrophy 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:

57
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

Human phenotypes related to Weyers Acrofacial Dysostosis:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404
2 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
3 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
4 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
5 small nail 59 32 Very frequent (99-80%) HP:0001792
6 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
7 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738
8 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
9 advanced eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006288
10 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
11 facial cleft 59 32 frequent (33%) Frequent (79-30%) HP:0002006
12 single median maxillary incisor 59 32 hallmark (90%) Very frequent (99-80%) HP:0006315
13 overlapping fingers 59 32 frequent (33%) Frequent (79-30%) HP:0010557
14 toenail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100797
15 conical tooth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000698
16 mild short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003502
17 abnormality of the dentition 59 Very frequent (99-80%)
18 short palm 32 HP:0004279
19 brachydactyly 32 HP:0001156
20 nail dysplasia 32 HP:0002164
21 hypotelorism 32 HP:0000601
22 postaxial foot polydactyly 32 HP:0001830
23 abnormality of oral frenula 59 Very frequent (99-80%)
24 abnormality of the toenails 59 Very frequent (99-80%)
25 prominent antihelix 32 HP:0000395
26 abnormal oral frenulum morphology 32 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 29 EVC EVC2

Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

41
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:

75
# 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 433)
# 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 EVC2 NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs) deletion Pathogenic rs587776568 GRCh38 Chromosome 4, 5562982: 5562982
3 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic rs121908426 GRCh37 Chromosome 4, 5747048: 5747048
4 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic rs121908426 GRCh38 Chromosome 4, 5745321: 5745321
5 EVC2 EVC2, 3797T-G, LEU1266TER single nucleotide variant Pathogenic
6 EVC2 EVC2, 3797T-A, LEU1266TER single nucleotide variant Pathogenic
7 EVC2 EVC2, GLY1269TER single nucleotide variant Pathogenic
8 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh37 Chromosome 4, 5755542: 5755542
9 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh38 Chromosome 4, 5753815: 5753815
10 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh37 Chromosome 4, 5755516: 5755516
11 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh38 Chromosome 4, 5753789: 5753789
12 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh37 Chromosome 4, 5710119: 5710119
13 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh38 Chromosome 4, 5708392: 5708392
14 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh37 Chromosome 4, 5713115: 5713115
15 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh38 Chromosome 4, 5711388: 5711388
16 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh37 Chromosome 4, 5642347: 5642347
17 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh38 Chromosome 4, 5640620: 5640620
18 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh37 Chromosome 4, 5795384: 5795384
19 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh38 Chromosome 4, 5793657: 5793657
20 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh37 Chromosome 4, 5795413: 5795413
21 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh38 Chromosome 4, 5793686: 5793686
22 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh37 Chromosome 4, 5624614: 5624614
23 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh38 Chromosome 4, 5622887: 5622887
24 EVC NM_153717.2(EVC): c.284A> G (p.Asp95Gly) single nucleotide variant Benign/Likely benign rs41269547 GRCh37 Chromosome 4, 5721084: 5721084
25 EVC NM_153717.2(EVC): c.284A> G (p.Asp95Gly) single nucleotide variant Benign/Likely benign rs41269547 GRCh38 Chromosome 4, 5719357: 5719357
26 EVC2 NM_147127.4(EVC2): c.3557+10G> A single nucleotide variant Benign/Likely benign rs116218656 GRCh37 Chromosome 4, 5570161: 5570161
27 EVC2 NM_147127.4(EVC2): c.3557+10G> A single nucleotide variant Benign/Likely benign rs116218656 GRCh38 Chromosome 4, 5568434: 5568434
28 EVC NM_153717.2(EVC): c.473C> G (p.Ser158Cys) single nucleotide variant Benign/Likely benign rs150284356 GRCh37 Chromosome 4, 5733240: 5733240
29 EVC NM_153717.2(EVC): c.473C> G (p.Ser158Cys) single nucleotide variant Benign/Likely benign rs150284356 GRCh38 Chromosome 4, 5731513: 5731513
30 EVC NM_153717.2(EVC): c.469C> G (p.Pro157Ala) single nucleotide variant Likely benign rs146729456 GRCh37 Chromosome 4, 5733236: 5733236
31 EVC NM_153717.2(EVC): c.469C> G (p.Pro157Ala) single nucleotide variant Likely benign rs146729456 GRCh38 Chromosome 4, 5731509: 5731509
32 EVC NM_153717.2(EVC): c.769C> T (p.Leu257=) single nucleotide variant Benign rs6446393 GRCh37 Chromosome 4, 5743509: 5743509
33 EVC NM_153717.2(EVC): c.769C> T (p.Leu257=) single nucleotide variant Benign rs6446393 GRCh38 Chromosome 4, 5741782: 5741782
34 EVC NM_153717.2(EVC): c.772T> C (p.Tyr258His) single nucleotide variant Benign rs6414624 GRCh37 Chromosome 4, 5743512: 5743512
35 EVC NM_153717.2(EVC): c.772T> C (p.Tyr258His) single nucleotide variant Benign rs6414624 GRCh38 Chromosome 4, 5741785: 5741785
36 EVC NM_153717.2(EVC): c.780G> A (p.Lys260=) single nucleotide variant Benign rs41269555 GRCh37 Chromosome 4, 5743520: 5743520
37 EVC NM_153717.2(EVC): c.780G> A (p.Lys260=) single nucleotide variant Benign rs41269555 GRCh38 Chromosome 4, 5741793: 5741793
38 EVC NM_153717.2(EVC): c.1127C> T (p.Ala376Val) single nucleotide variant Benign/Likely benign rs142535134 GRCh37 Chromosome 4, 5754591: 5754591
39 EVC NM_153717.2(EVC): c.1127C> T (p.Ala376Val) single nucleotide variant Benign/Likely benign rs142535134 GRCh38 Chromosome 4, 5752864: 5752864
40 EVC2 NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala) single nucleotide variant Benign/Likely benign rs73063795 GRCh37 Chromosome 4, 5642327: 5642327
41 EVC2 NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala) single nucleotide variant Benign/Likely benign rs73063795 GRCh38 Chromosome 4, 5640600: 5640600
42 EVC2 NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu) single nucleotide variant Benign/Likely benign rs60809236 GRCh38 Chromosome 4, 5584657: 5584657
43 EVC2 NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu) single nucleotide variant Benign/Likely benign rs60809236 GRCh37 Chromosome 4, 5586384: 5586384
44 EVC2 NM_147127.4(EVC2): c.2235A> G (p.Glu745=) single nucleotide variant Benign rs60121553 GRCh38 Chromosome 4, 5622803: 5622803
45 EVC2 NM_147127.4(EVC2): c.2235A> G (p.Glu745=) single nucleotide variant Benign rs60121553 GRCh37 Chromosome 4, 5624530: 5624530
46 EVC2 NM_147127.4(EVC2): c.2046+5A> G single nucleotide variant Benign rs6850875 GRCh38 Chromosome 4, 5625744: 5625744
47 EVC2 NM_147127.4(EVC2): c.2046+5A> G single nucleotide variant Benign rs6850875 GRCh37 Chromosome 4, 5627471: 5627471
48 EVC2 NM_147127.4(EVC2): c.675A> G (p.Gly225=) single nucleotide variant Conflicting interpretations of pathogenicity rs74930168 GRCh38 Chromosome 4, 5689188: 5689188
49 EVC2 NM_147127.4(EVC2): c.675A> G (p.Gly225=) single nucleotide variant Conflicting interpretations of pathogenicity rs74930168 GRCh37 Chromosome 4, 5690915: 5690915
50 EVC; EVC2 NM_147127.4(EVC2): c.52C> T (p.Leu18Phe) single nucleotide variant Benign rs6820907 GRCh38 Chromosome 4, 5708462: 5708462

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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