WAD
MCID: WYR002
MIFTS: 56

Weyers Acrofacial Dysostosis (WAD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Weyers Acrofacial Dysostosis

MalaCards integrated aliases for Weyers Acrofacial Dysostosis:

Name: Weyers Acrofacial Dysostosis 57 11 19 42 58 73 43 14 71
Curry-Hall Syndrome 57 11 42 58 73 28 5
Weyers Acrodental Dysostosis 11 42 58 12
Acrofacial Dysostosis, Weyers Type 11 58 73
Acrodental Dysostosis of Weyers 57 42 73
Wad 57 11 73
Acrofacial Dysostosis of Weyers 19
Curry Hall Syndrome 19

Characteristics:


Inheritance:

Weyers Acrofacial Dysostosis: Autosomal dominant 57
Acrofacial Dysostosis, Weyers Type: Autosomal dominant 58

Age Of Onset:

Acrofacial Dysostosis, Weyers Type: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to ellis-van creveld syndrome


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111571
OMIM® 57 193530
SNOMED-CT 68 277807007
MESH via Orphanet 44 C536695
ICD10 via Orphanet 32 Q75.4
UMLS via Orphanet 72 C0457013
Orphanet 58 ORPHA952
MedGen 40 C0457013
UMLS 71 C0457013

Summaries for Weyers Acrofacial Dysostosis

MedlinePlus Genetics: 42 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).The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.

MalaCards based summary: Weyers Acrofacial Dysostosis, also known as curry-hall syndrome, is related to mckusick-kaufman syndrome and ellis-van creveld syndrome. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone, heart and skin, and related phenotypes are hypoplastic toenails and abnormal fingernail morphology

GARD: 19 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.

Orphanet: 58 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.

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) (Updated 08-Dec-2022)

Disease Ontology: 11 An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has material basis in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.

UniProtKB/Swiss-Prot: 73 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 top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 mckusick-kaufman syndrome 30.9 IFT80 EVC2 EVC
2 ellis-van creveld syndrome 30.8 WDR35 WDR19 TTC21B NEK1 IQCE IFT80
3 polydactyly, postaxial, type a1 30.4 IQCE EVC
4 osteochondrodysplasia 30.1 WDR35 WDR19 TTC21B NEK1 IFT80 EVC2
5 acrofacial dysostosis 30.0 WDR35 WDR19 TTC21B IQCE IFT80 IFT43
6 cranioectodermal dysplasia 29.0 WDR35 WDR19 TTC21B NEK1 IFT80 IFT74
7 polydactyly 28.9 WDR35 WDR19 TTC21B NEK1 IQCE IFT80
8 whiplash 10.7
9 dysostosis 10.4
10 basal cell carcinoma, infundibulocystic 10.3 IQCE EFCAB7
11 anodontia 10.3 EVC2 EVC
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
13 short rib-polydactyly syndrome 10.3 WDR35 IFT43 DYNC2H1
14 achondrogenesis, type ia 10.2 NEK1 DYNC2H1
15 orofaciodigital syndrome iv 10.2 DYNC2I2 DYNC2I1
16 bone development disease 10.2 IFT80 EVC2 DYNC2H1
17 short-rib thoracic dysplasia 10 with or without polydactyly 10.2 IFT172 DYNC2H1
18 bardet-biedl syndrome 22 10.2 IFT74 IFT172
19 oculoauricular syndrome 10.2 EVC2 EVC
20 juvenile nephronophthisis 10.2 WDR19 TTC21B IFT140
21 chronic pain 10.2
22 macular degeneration, x-linked atrophic 10.2 DYNC2I2 DYNC2I1
23 tooth agenesis 10.2 WDR35 IFT122 EVC2 EVC
24 nephronophthisis 12 10.2 WDR19 TTC21B IFT74
25 cranioectodermal dysplasia 1 10.1 WDR35 WDR19 IFT140 IFT122
26 spondylometaphyseal dysplasia, axial 10.1 NEK1 DYNC2I1
27 short-rib thoracic dysplasia 11 with or without polydactyly 10.1 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
28 cleft lip/palate 10.1 WDR35 DYNC2H1
29 short-rib thoracic dysplasia 8 with or without polydactyly 10.1 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
30 nail disorder, nonsyndromic congenital, 9 10.1
31 craniosynostosis 10.1 WDR35 WDR19 IFT43 IFT122
32 autosomal dominant polycystic kidney disease 10.1 WDR19 TTC21B IFT80 IFT140
33 brachydactyly 10.1 WDR35 WDR19 IQCE IFT43 IFT122
34 hydrolethalus syndrome 1 10.1 WDR35 WDR19 TTC21B IFT80 IFT140
35 short-rib thoracic dysplasia 5 with or without polydactyly 10.0 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
36 short-rib thoracic dysplasia 7 with or without polydactyly 10.0 WDR35 WDR19 TTC21B IFT140 IFT122 DYNC2I1
37 short-rib thoracic dysplasia 4 with or without polydactyly 10.0 WDR35 WDR19 TTC21B IFT140 IFT122 DYNC2I1
38 carpal tunnel syndrome 10.0
39 fibrodysplasia ossificans progressiva 10.0
40 myositis 10.0
41 deficiency anemia 10.0
42 severe covid-19 10.0
43 crimean-congo hemorrhagic fever 10.0
44 plasmodium falciparum malaria 10.0
45 myositis ossificans 10.0
46 polycystic kidney disease 4 with or without polycystic liver disease 9.9 WDR19 TTC21B IFT80 IFT172 IFT140 DYNC2H1
47 joubert syndrome 17 9.9 WDR35 TTC21B IFT74 IFT43 IFT140 IFT122
48 senior-loken syndrome 1 9.9 WDR19 TTC21B IFT80 IFT172 IFT140 IFT122
49 situs inversus 9.9 WDR19 TTC21B IFT80 IFT172 IFT140 DYNC2H1
50 retinal degeneration 9.9 TTC21B IQCE IFT43 IFT172 DYNC2I1 DYNC2H1

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:

58 30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic toenails 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001800
2 abnormal fingernail morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001231
3 hypodontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000668
4 advanced eruption of teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006288
5 abnormal oral frenulum morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000190
6 postaxial hand polydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001162
7 nail dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008404
8 toenail dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100797
9 conical tooth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000698
10 mild short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003502
11 solitary median maxillary central incisor 30 Hallmark (90%) HP:0006315
12 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
13 small hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0200055
14 facial cleft 58 30 Frequent (33%) Frequent (79-30%)
HP:0002006
15 overlapping fingers 58 30 Frequent (33%) Frequent (79-30%)
HP:0010557
16 abnormal antihelix morphology 30 Frequent (33%) HP:0009738
17 small nail 58 30 Very frequent (99-80%)
HP:0001792
18 abnormality of the dentition 58 Very frequent (99-80%)
19 brachydactyly 30 HP:0001156
20 hypotelorism 30 HP:0000601
21 abnormality of the antihelix 58 Frequent (79-30%)
22 nail dysplasia 30 HP:0002164
23 postaxial foot polydactyly 30 HP:0001830
24 single median maxillary incisor 58 Very frequent (99-80%)
25 abnormal toenail morphology 58 Very frequent (99-80%)
26 short palm 30 HP:0004279
27 prominent antihelix 30 HP:0000395

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
hypotelorism

Skeletal Feet:
postaxial polydactyly

Skin Nails Hair Nails:
hypoplastic nails
dysplastic nails

Head And Neck Mouth:
multiple frenula

Skeletal Skull:
cleft of mandibular symphysis (infancy)

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

Head And Neck Ears:
prominent antihelix

Growth Height:
short stature, mild

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

Clinical features from OMIM®:

193530 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Weyers Acrofacial Dysostosis:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.32 DYNC2H1 DYNC2I2 DYNC2LI1 EVC EVC2 IFT122
2 growth/size/body region MP:0005378 10.3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC EVC2
3 nervous system MP:0003631 10.24 DYNC2H1 DYNC2I2 DYNC2LI1 EVC2 IFT122 IFT140
4 embryo MP:0005380 10.17 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT140
5 cellular MP:0005384 10.13 DYNC2H1 DYNC2I2 DYNC2LI1 EVC EVC2 IFT122
6 craniofacial MP:0005382 10.11 DYNC2H1 EVC EVC2 IFT122 IFT140 IFT172
7 digestive/alimentary MP:0005381 10.01 DYNC2H1 DYNC2I1 EVC2 IFT122 IFT140 IFT172
8 cardiovascular system MP:0005385 10 DYNC2H1 DYNC2I1 DYNC2LI1 EVC2 IFT122 IFT140
9 skeleton MP:0005390 9.9 DYNC2H1 EVC EVC2 IFT140 IFT172 IFT80
10 vision/eye MP:0005391 9.61 DYNC2H1 DYNC2I2 IFT122 IFT140 IFT172 IFT80
11 mortality/aging MP:0010768 9.5 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC EVC2

Drugs & Therapeutics for Weyers Acrofacial Dysostosis

Search Clinical Trials, NIH Clinical Center for Weyers Acrofacial Dysostosis

Cochrane evidence based reviews: 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

Organs/tissues related to Weyers Acrofacial Dysostosis:

MalaCards : Bone, Heart, Skin

Publications for Weyers Acrofacial Dysostosis

Articles related to Weyers Acrofacial Dysostosis:

(show all 47)
# Title Authors PMID Year
1
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 62 57 5
23220543 2013
2
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. 62 57 5
16404586 2006
3
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 62 57 5
10700184 2000
4
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 57 5
19810119 2009
5
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. 62 5
21815252 2011
6
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 62 5
19876929 2009
7
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. 62 57
9399901 1997
8
Symptomatic heterozygosity in the Ellis-van Creveld syndrome? 62 57
7628126 1995
9
Weyers acrodental dysostosis in a family. 62 57
6499270 1984
10
Brief clinical report: Curry-Hall syndrome. 62 57
6711608 1984
11
Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome. 5
31338997 2019
12
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. 5
31028937 2019
13
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 5
29068549 2018
14
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. 5
29456477 2017
15
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 5
29321360 2017
16
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. 5
28854412 2017
17
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. 5
26748586 2016
18
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. 5
26818569 2016
19
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
20
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. 5
26064711 2015
21
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. 5
25174843 2015
22
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. 5
26625674 2015
23
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. 5
23924873 2013
24
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. 5
23026208 2012
25
Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings. 5
22406498 2012
26
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. 5
21199751 2010
27
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 5
19744229 2010
28
Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. 5
19251731 2009
29
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 5
18947413 2008
30
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. 5
18454448 2008
31
Polydactyly with ectodermal defect, osteopenia, and mental delay. 5
18182642 2008
32
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
33
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 5
17024374 2007
34
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
35
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. 5
12571802 2003
36
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. 5
12468274 2002
37
Statistical features of human exons and their flanking regions. 5
9536098 1998
38
Microdeletion of 4p16.2 in Children: A Case Report and Literature Review. 62
35437470 2022
39
Role of Primary Cilia in Odontogenesis. 62
28605602 2017
40
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. 62
26621368 2016
41
Evc regulates a symmetrical response to Shh signaling in molar development. 62
23315474 2013
42
Ciliary disorder of the skeleton. 62
22791528 2012
43
Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis. 62
22616035 2012
44
Ellis-van Creveld and Weyers acrofacial dysostosis. 62
17942330 2007
45
Familial diseases revealed by a fetal anomaly. 62
17139695 2006
46
Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome. 62
15844783 2005
47
Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes. 62
15492864 2004

Variations for Weyers Acrofacial Dysostosis

ClinVar genetic disease variations for Weyers Acrofacial Dysostosis:

5 (show top 50) (show all 1587)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EVC2 NM_147127.5(EVC2):c.3793del (p.Leu1265fs) DEL Pathogenic
3388 rs587776568 GRCh37: 4:5564709-5564709
GRCh38: 4:5562982-5562982
2 EVC2 NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) SNV Pathogenic
102430 rs1577093161 GRCh37: 4:5564705-5564705
GRCh38: 4:5562978-5562978
3 EVC2 NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter) SNV Pathogenic
102431 rs1577093161 GRCh37: 4:5564705-5564705
GRCh38: 4:5562978-5562978
4 EVC2 NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) SNV Pathogenic
102432 rs1560121645 GRCh37: 4:5564697-5564697
GRCh38: 4:5562970-5562970
5 EVC NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) SNV Pathogenic
530945 rs1446547358 GRCh37: 4:5800451-5800451
GRCh38: 4:5798724-5798724
6 EVC NM_153717.3(EVC):c.873dup (p.Glu292Ter) DUP Pathogenic
551674 rs527255616 GRCh37: 4:5747001-5747002
GRCh38: 4:5745274-5745275
7 EVC2 NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) SNV Pathogenic
3383 rs137852924 GRCh37: 4:5642516-5642516
GRCh38: 4:5640789-5640789
8 EVC2 NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) SNV Pathogenic
194442 rs751356206 GRCh37: 4:5624502-5624502
GRCh38: 4:5622775-5622775
9 EVC NM_153717.3(EVC):c.724dup (p.Met242fs) DUP Pathogenic
645928 rs1577395250 GRCh37: 4:5743460-5743461
GRCh38: 4:5741733-5741734
10 EVC2 NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) SNV Pathogenic
647337 rs144167138 GRCh37: 4:5578034-5578034
GRCh38: 4:5576307-5576307
11 EVC2 NC_000004.12:g.(?_5689147)_(5689353_?)del DEL Pathogenic
647967 GRCh37: 4:5690874-5691080
GRCh38: 4:5689147-5689353
12 EVC NM_153717.3(EVC):c.1694del (p.Ala565fs) DEL Pathogenic
551227 rs753014919 GRCh37: 4:5785409-5785409
GRCh38: 4:5783682-5783682
13 EVC NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) SNV Pathogenic
5340 rs121908425 GRCh37: 4:5749953-5749953
GRCh38: 4:5748226-5748226
14 EVC2 NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) SNV Pathogenic
656440 rs781623802 GRCh37: 4:5624673-5624673
GRCh38: 4:5622946-5622946
15 EVC2 NC_000004.12:g.(?_5562848)_(5565369_?)del DEL Pathogenic
830808 GRCh37: 4:5564575-5567096
GRCh38:
16 overlap with 2 genes NC_000004.12:g.(?_5562838)_(5758135_?)del DEL Pathogenic
832223 GRCh37: 4:5564565-5759862
GRCh38:
17 EVC2 NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) DUP Pathogenic
555651 rs1553855127 GRCh37: 4:5710114-5710115
GRCh38: 4:5708387-5708388
18 EVC NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) SNV Pathogenic
835115 rs374752679 GRCh37: 4:5803818-5803818
GRCh38: 4:5802091-5802091
19 EVC2 NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) DUP Pathogenic
838376 rs1722452431 GRCh37: 4:5570272-5570273
GRCh38: 4:5568545-5568546
20 EVC2 NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) SNV Pathogenic
280117 rs548681312 GRCh37: 4:5624289-5624289
GRCh38: 4:5622562-5622562
21 EVC NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) SNV Pathogenic
839382 rs774949132 GRCh37: 4:5798876-5798876
GRCh38: 4:5797149-5797149
22 EVC NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) SNV Pathogenic
5339 rs121908424 GRCh37: 4:5810001-5810001
GRCh38: 4:5808274-5808274
23 EVC2 NM_147127.5(EVC2):c.199_208del (p.Ser67fs) DEL Pathogenic
555475 rs1420414097 GRCh37: 4:5710033-5710042
GRCh38: 4:5708306-5708315
24 EVC2 NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) SNV Pathogenic
845073 rs1715453232 GRCh37: 4:5620372-5620372
GRCh38: 4:5618645-5618645
25 EVC2 NC_000004.12:g.(?_5568434)_(5568650_?)del DEL Pathogenic
830445 GRCh37: 4:5570161-5570377
GRCh38:
26 EVC2 NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) SNV Pathogenic
846041 rs200560762 GRCh37: 4:5578099-5578099
GRCh38: 4:5576372-5576372
27 EVC NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) SNV Pathogenic
451398 rs1553891936 GRCh37: 4:5800379-5800379
GRCh38: 4:5798652-5798652
28 EVC2 NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) DUP Pathogenic
851655 rs1722814486 GRCh37: 4:5576425-5576426
GRCh38: 4:5574698-5574699
29 EVC2 NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) SNV Pathogenic
658689 rs1577170055 GRCh37: 4:5624397-5624397
GRCh38: 4:5622670-5622670
30 EVC NC_000004.12:g.(?_5797002)_(5797252_?)del DEL Pathogenic
583701 GRCh37: 4:5798729-5798979
GRCh38: 4:5797002-5797252
31 EVC2 NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) SNV Pathogenic
580714 rs748820015 GRCh37: 4:5696171-5696171
GRCh38: 4:5694444-5694444
32 EVC2 NM_147127.5(EVC2):c.142_151del (p.Asp49fs) DEL Pathogenic
550552 rs1221185345 GRCh37: 4:5710090-5710099
GRCh38: 4:5708363-5708372
33 EVC2 NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) SNV Pathogenic
554547 rs760382778 GRCh37: 4:5620291-5620291
GRCh38: 4:5618564-5618564
34 EVC2 NM_147127.5(EVC2):c.392dup (p.Pro132fs) DUP Pathogenic
575995 rs774416029 GRCh37: 4:5696119-5696120
GRCh38: 4:5694392-5694393
35 EVC NM_153717.3(EVC):c.155del (p.Arg52fs) DEL Pathogenic
848615 rs1439712140 GRCh37: 4:5713262-5713262
GRCh38: 4:5711535-5711535
36 EVC2 NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) SNV Pathogenic
848665 rs1284395468 GRCh37: 4:5633624-5633624
GRCh38: 4:5631897-5631897
37 EVC2 NM_147127.5(EVC2):c.871-2_894del DEL Pathogenic
553798 rs755789146 GRCh37: 4:5667353-5667378
GRCh38: 4:5665626-5665651
38 EVC NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) SNV Pathogenic
850722 rs767400887 GRCh37: 4:5811287-5811287
GRCh38: 4:5809560-5809560
39 EVC2 NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) SNV Pathogenic
851235 rs999964757 GRCh37: 4:5690922-5690922
GRCh38: 4:5689195-5689195
40 EVC2 NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) MICROSAT Pathogenic
854737 rs1722451930 GRCh37: 4:5570266-5570267
GRCh38: 4:5568539-5568540
41 EVC2 NM_147127.5(EVC2):c.826_827del (p.Gln276fs) MICROSAT Pathogenic
854827 rs758841632 GRCh37: 4:5683030-5683031
GRCh38: 4:5681303-5681304
42 EVC2 NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) SNV Pathogenic
855091 rs1282621867 GRCh37: 4:5624367-5624367
GRCh38: 4:5622640-5622640
43 EVC2 NM_147127.5(EVC2):c.3659+2T>C SNV Pathogenic
348980 rs200300612 GRCh37: 4:5566983-5566983
GRCh38: 4:5565256-5565256
44 EVC2 NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) DEL Pathogenic
195541 rs750396637 GRCh37: 4:5570317-5570323
GRCh38: 4:5568590-5568596
45 EVC NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) SNV Pathogenic
445803 rs896581899 GRCh37: 4:5812104-5812104
GRCh38: 4:5810377-5810377
46 EVC2 NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) DEL Pathogenic
949041 rs1715829134 GRCh37: 4:5624695-5624696
GRCh38: 4:5622968-5622969
47 EVC2 NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) INSERT Pathogenic
950482 rs1717259479 GRCh37: 4:5642369-5642370
GRCh38: 4:5640642-5640643
48 EVC2 NM_147127.5(EVC2):c.821_824del (p.Arg274fs) DEL Pathogenic
950483 rs1368193719 GRCh37: 4:5683033-5683036
GRCh38: 4:5681306-5681309
49 EVC NM_153717.3(EVC):c.612C>A (p.Cys204Ter) SNV Pathogenic
951117 rs553634958 GRCh37: 4:5733379-5733379
GRCh38: 4:5731652-5731652
50 EVC NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) SNV Pathogenic
951422 rs1714412021 GRCh37: 4:5800361-5800361
GRCh38: 4:5798634-5798634

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

73
# Symbol AA change Variation ID SNP ID
1 EVC p.Ser307Pro VAR_009944 rs121908426

Expression for Weyers Acrofacial Dysostosis

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

Pathways for Weyers Acrofacial Dysostosis

GO Terms for Weyers Acrofacial Dysostosis

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 10.36 DYNC2I1 DYNC2I2 DYNC2LI1 IFT140 IFT74 IFT80
2 cytoskeleton GO:0005856 10.3 WDR35 WDR19 TTC21B NEK1 IFT80 IFT43
3 ciliary basal body GO:0036064 10.28 CFAP90 DYNC2I2 DYNC2LI1 EVC IFT122 IFT140
4 cilium GO:0005929 10.19 WDR35 WDR19 TTC21B IQCE IFT80 IFT74
5 axoneme GO:0005930 10.18 DYNC2H1 DYNC2I2 DYNC2LI1 IFT140 IFT172 WDR35
6 motile cilium GO:0031514 10.17 WDR19 IFT74 DYNC2LI1 DYNC2H1
7 ciliary membrane GO:0060170 10.11 IQCE EVC2 EVC EFCAB7
8 cell projection GO:0042995 10.09 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1 EFCAB7 EVC
9 photoreceptor connecting cilium GO:0032391 10.03 WDR19 IFT140 IFT122
10 cytoplasmic dynein complex GO:0005868 10.03 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
11 intraciliary transport particle A GO:0030991 10.03 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
12 intraciliary transport particle B GO:0030992 10 IFT172 IFT74 IFT80
13 microtubule organizing center GO:0005815 9.97 WDR35 NEK1 IFT140 DYNC2LI1 DYNC2I2 DYNC2I1
14 non-motile cilium GO:0097730 9.95 WDR19 IFT140 IFT122
15 plasma membrane protein complex GO:0098797 9.95 EVC2 EVC EFCAB7
16 ciliary plasm GO:0097014 9.84 DYNC2I2 DYNC2I1
17 ciliary tip GO:0097542 9.74 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT140

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 10.14 WDR19 TTC21B IFT80 IFT172 EVC2 EVC
2 non-motile cilium assembly GO:1905515 10.1 IFT80 IFT74 IFT172 IFT140 IFT122 DYNC2H1
3 determination of left/right symmetry GO:0007368 10.09 IFT74 IFT172 IFT140 DYNC2LI1 DYNC2H1
4 cilium assembly GO:0060271 10.09 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT140
5 protein localization to cilium GO:0061512 10.07 DYNC2H1 IFT122 IFT140 TTC21B WDR35
6 intraciliary transport GO:0042073 10.07 WDR35 IFT74 IFT172 IFT140 IFT122 DYNC2I2
7 heart development GO:0007507 10.05 IFT74 IFT172 IFT140 DYNC2H1
8 microtubule-based movement GO:0007018 10.04 DYNC2I2 DYNC2I1 DYNC2H1
9 limb development GO:0060173 10.01 IFT122 IFT172 IFT80
10 positive regulation of smoothened signaling pathway GO:0045880 10 IFT172 EVC DYNC2H1
11 keratinocyte proliferation GO:0043616 9.99 IFT80 IFT74 IFT172
12 negative regulation of keratinocyte proliferation GO:0010839 9.97 IFT172 IFT74 IFT80
13 intraciliary anterograde transport GO:0035720 9.93 IFT80 IFT74 IFT172
14 regulation of smoothened signaling pathway GO:0008589 9.88 TTC21B IFT172 IFT140
15 embryonic camera-type eye development GO:0031076 9.86 WDR19 IFT140
16 intraciliary transport involved in cilium assembly GO:0035735 9.85 IFT74 DYNC2LI1
17 cell projection organization GO:0030030 9.85 DYNC2H1 DYNC2I1 DYNC2LI1 IFT122 IFT140 IFT43
18 intraciliary retrograde transport GO:0035721 9.62 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT140

Molecular functions related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light chain binding GO:0045503 9.26 DYNC2I2 DYNC2I1
2 dynein heavy chain binding GO:0045504 9.1 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Weyers Acrofacial Dysostosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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