WAD
MCID: WYR002
MIFTS: 53

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 57 12 20 43 58 72 36 44 15 70
Curry-Hall Syndrome 57 12 43 58 72 29 6
Weyers Acrodental Dysostosis 12 43 58 13
Acrofacial Dysostosis, Weyers Type 12 58 72
Acrodental Dysostosis of Weyers 57 43 72
Wad 57 12 72
Acrofacial Dysostosis of Weyers 20
Dysostosis, Acrodental, Weyers 39
Curry Hall Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
acrofacial dysostosis, weyers type
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
allelic to ellis-van creveld syndrome


HPO:

31
weyers acrofacial dysostosis:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111571
OMIM® 57 193530
KEGG 36 H02158
SNOMED-CT 67 277807007
MESH via Orphanet 45 C536695
ICD10 via Orphanet 33 Q75.4
UMLS via Orphanet 71 C0457013
Orphanet 58 ORPHA952
MedGen 41 C0457013
UMLS 70 C0457013

Summaries for Weyers Acrofacial Dysostosis

MedlinePlus Genetics : 43 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 ellis-van creveld syndrome and acrofacial 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 GPCR. Affiliated tissues include heart, bone and kidney, and related phenotypes are hypoplastic toenails and abnormal fingernail morphology

Disease Ontology : 12 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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 952 Definition 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 20-May-2021)

KEGG : 36 Weyers acrofacial dysostosis, also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in EVC1 or EVC2 genes. Both EVC1 and EVC2 localize to the basal bodies of primary cilia and play a role in hedgehog signaling.

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 ellis-van creveld syndrome 31.0 WDR35 WDR19 TTC21B NEK1 IQCE IFT80
2 acrofacial dysostosis 30.8 WDR35 IQCE IFT80 EVC2 EVC EFCAB7
3 osteochondrodysplasia 30.6 WDR35 WDR19 IFT80 EVC2 EVC DYNC2H1
4 cranioectodermal dysplasia 29.4 WDR35 WDR19 TTC21B NEK1 IFT80 IFT43
5 polydactyly 29.4 WDR35 WDR19 TTC21B NEK1 IQCE IFT80
6 whiplash 10.7
7 dysostosis 10.4
8 basal cell carcinoma, infundibulocystic 10.4 IQCE EFCAB7
9 anodontia 10.3 EVC2 EVC
10 orofaciodigital syndrome iv 10.3 DYNC2I2 DYNC2I1
11 oculoauricular syndrome 10.3 EVC2 EVC
12 polydactyly, postaxial, type a1 10.3
13 mckusick-kaufman syndrome 10.3
14 short-rib thoracic dysplasia 8 with or without polydactyly 10.3 DYNC2I2 DYNC2I1 DYNC2H1
15 nephronophthisis 13 10.3 WDR19 TTC21B
16 short-rib thoracic dysplasia 11 with or without polydactyly 10.3 DYNC2I2 DYNC2I1 DYNC2H1
17 syndactyly, type iv 10.3 IQCE EFCAB7
18 bone development disease 10.3 IFT80 EVC2 DYNC2H1
19 short rib-polydactyly syndrome 10.3 WDR35 IFT43 DYNC2H1
20 autosomal recessive disease 10.2
21 chronic pain 10.2
22 joubert syndrome 17 10.2 WDR35 IFT140
23 short-rib thoracic dysplasia 2 with or without polydactyly 10.2 WDR19 TTC21B IFT80 DYNC2H1
24 bardet-biedl syndrome 7 10.2 DYNC2I2 DYNC2I1
25 cranioectodermal dysplasia 1 10.2 WDR35 WDR19 IFT140 IFT122
26 short-rib thoracic dysplasia 5 with or without polydactyly 10.2 WDR35 WDR19 IFT140 IFT122
27 nephronophthisis 12 10.1 WDR19 TTC21B
28 visceral heterotaxy 10.1 TTC21B IFT80 IFT172 DYNC2H1
29 short-rib thoracic dysplasia 7 with or without polydactyly 10.1 WDR35 WDR19 TTC21B IFT140 DYNC2I1
30 nail disorder, nonsyndromic congenital, 9 10.1
31 short-rib thoracic dysplasia 4 with or without polydactyly 10.1 WDR35 WDR19 TTC21B IFT140 DYNC2I1
32 brachydactyly 10.1 WDR35 WDR19 IQCE IFT43 IFT122
33 joubert syndrome 4 10.0 TTC21B IFT80
34 senior-loken syndrome 1 10.0 WDR19 TTC21B IFT80 IFT172 IFT140 IFT122
35 myositis 10.0
36 myositis ossificans 10.0
37 polycystic kidney disease 4 with or without polycystic liver disease 10.0 WDR19 TTC21B IFT80 IFT172 IFT140 DYNC2H1
38 retinal degeneration 9.9 TTC21B IQCE IFT43 IFT172 IFT140 DYNC2H1
39 cleft lip/palate 9.9 WDR35 IFT43 IFT172 IFT140 DYNC2I2 DYNC2I1
40 short-rib thoracic dysplasia 9 with or without polydactyly 9.9 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
41 migraine with or without aura 1 9.8
42 retinoblastoma 9.8
43 sarcoma, synovial 9.8
44 asthma 9.8
45 human immunodeficiency virus type 1 9.8
46 malaria 9.8
47 leukemia, acute lymphoblastic 9.8
48 aortic valve disease 2 9.8
49 connective tissue benign neoplasm 9.8
50 urinary tract infection 9.8

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 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
2 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
3 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
4 advanced eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006288
5 abnormal oral frenulum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000190
6 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
7 single median maxillary incisor 58 31 hallmark (90%) Very frequent (99-80%) HP:0006315
8 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
9 toenail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100797
10 conical tooth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000698
11 mild short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003502
12 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
13 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
14 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
15 facial cleft 58 31 frequent (33%) Frequent (79-30%) HP:0002006
16 overlapping fingers 58 31 frequent (33%) Frequent (79-30%) HP:0010557
17 small nail 58 31 Very frequent (99-80%) HP:0001792
18 abnormality of the dentition 58 Very frequent (99-80%)
19 brachydactyly 31 HP:0001156
20 hypotelorism 31 HP:0000601
21 nail dysplasia 31 HP:0002164
22 postaxial foot polydactyly 31 HP:0001830
23 abnormal toenail morphology 58 Very frequent (99-80%)
24 short palm 31 HP:0004279
25 prominent antihelix 31 HP:0000395

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

MGI Mouse Phenotypes related to Weyers Acrofacial Dysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 DYNC2H1 DYNC2I2 EVC EVC2 IFT122 IFT140
2 growth/size/body region MP:0005378 10.17 DYNC2H1 DYNC2I1 DYNC2I2 EFCAB7 EVC EVC2
3 craniofacial MP:0005382 10.14 DYNC2H1 EVC EVC2 IFT122 IFT140 IFT172
4 embryo MP:0005380 10.07 DYNC2H1 DYNC2I1 DYNC2I2 IFT122 IFT140 IFT172
5 limbs/digits/tail MP:0005371 10.07 DYNC2H1 DYNC2I2 EVC EVC2 IFT122 IFT140
6 mortality/aging MP:0010768 10 DYNC2H1 DYNC2I1 DYNC2I2 EVC EVC2 IFT122
7 skeleton MP:0005390 9.7 DYNC2H1 EVC EVC2 IFT140 IFT172 IFT80
8 vision/eye MP:0005391 9.32 DYNC2H1 DYNC2I2 IFT122 IFT140 IFT172 IFT43

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 29 EVC EVC2

Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

40
Heart, Bone, Kidney, Liver

Publications for Weyers Acrofacial Dysostosis

Articles related to Weyers Acrofacial Dysostosis:

(show all 34)
# Title Authors PMID Year
1
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 6 57 61
23220543 2013
2
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. 6 57 61
16404586 2006
3
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 57 6
19810119 2009
4
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 57 6
10700184 2000
5
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. 61 57
9399901 1997
6
Brief clinical report: Curry-Hall syndrome. 57 61
6711608 1984
7
Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome. 6
31338997 2019
8
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
9
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. 6
29229899 2017
10
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 6
29321360 2017
11
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. 6
26748586 2016
12
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. 6
26580685 2016
13
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. 6
25174843 2015
14
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. 6
23026208 2012
15
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. 6
22406498 2012
16
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. 6
22190900 2011
17
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. 6
21199751 2010
18
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 6
19744229 2010
19
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 6
19876929 2009
20
Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. 6
19251731 2009
21
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. 6
18454448 2008
22
Polydactyly with ectodermal defect, osteopenia, and mental delay. 6
18182642 2008
23
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 6
17024374 2007
24
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. 6
12571802 2003
25
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. 6
12468274 2002
26
Symptomatic heterozygosity in the Ellis-van Creveld syndrome? 57
7628126 1995
27
Weyers acrodental dysostosis in a family. 57
6499270 1984
28
Role of Primary Cilia in Odontogenesis. 61
28605602 2017
29
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. 61
26621368 2016
30
Ciliary disorder of the skeleton. 61
22791528 2012
31
Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis. 61
22616035 2012
32
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. 61
21815252 2011
33
Ellis-van Creveld and Weyers acrofacial dysostosis. 61
17942330 2007
34
Familial diseases revealed by a fetal anomaly. 61
17139695 2006

Variations for Weyers Acrofacial Dysostosis

ClinVar genetic disease variations for Weyers Acrofacial Dysostosis:

6 (show top 50) (show all 473)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EVC2 NM_147127.5(EVC2):c.3793del (p.Leu1265fs) Deletion 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.528del (p.Ser177fs) Deletion Pathogenic 1033173 GRCh37: 4:5733294-5733294
GRCh38: 4:5731567-5731567
7 EVC NM_153717.3(EVC):c.2794dup (p.Arg932fs) Duplication Pathogenic 1033171 GRCh37: 4:5812075-5812076
GRCh38: 4:5810348-5810349
8 EVC NM_153717.3(EVC):c.1312del (p.Arg438fs) Deletion Pathogenic 571769 rs1560340993 GRCh37: 4:5754775-5754775
GRCh38: 4:5753048-5753048
9 EVC2 NM_147127.5(EVC2):c.392dup (p.Pro132fs) Duplication Pathogenic 575995 rs774416029 GRCh37: 4:5696119-5696120
GRCh38: 4:5694392-5694393
10 EVC2 NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) SNV Pathogenic 554547 rs760382778 GRCh37: 4:5620291-5620291
GRCh38: 4:5618564-5618564
11 EVC2 NM_147127.5(EVC2):c.142_151del (p.Asp49fs) Deletion Pathogenic 550552 rs1221185345 GRCh37: 4:5710090-5710099
GRCh38: 4:5708363-5708372
12 EVC2 NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) SNV Pathogenic 580714 rs748820015 GRCh37: 4:5696171-5696171
GRCh38: 4:5694444-5694444
13 EVC NC_000004.12:g.(?_5797002)_(5797252_?)del Deletion Pathogenic 583701 GRCh37: 4:5798729-5798979
GRCh38: 4:5797002-5797252
14 EVC2 NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) SNV Pathogenic 3383 rs137852924 GRCh37: 4:5642516-5642516
GRCh38: 4:5640789-5640789
15 EVC2 NM_147127.5(EVC2):c.3762del (p.Val1255fs) Deletion Pathogenic 639672 rs1577093258 GRCh37: 4:5564740-5564740
GRCh38: 4:5563013-5563013
16 EVC2 NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) SNV Pathogenic 194442 rs751356206 GRCh37: 4:5624502-5624502
GRCh38: 4:5622775-5622775
17 EVC2 NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) SNV Pathogenic 3386 rs137852927 GRCh37: 4:5577974-5577974
GRCh38: 4:5576247-5576247
18 EVC NM_153717.3(EVC):c.724dup (p.Met242fs) Duplication Pathogenic 645928 rs1577395250 GRCh37: 4:5743460-5743461
GRCh38: 4:5741733-5741734
19 EVC2 NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) SNV Pathogenic 647337 rs144167138 GRCh37: 4:5578034-5578034
GRCh38: 4:5576307-5576307
20 EVC2 NC_000004.12:g.(?_5689147)_(5689353_?)del Deletion Pathogenic 647967 GRCh37: 4:5690874-5691080
GRCh38: 4:5689147-5689353
21 EVC2 NM_147127.5(EVC2):c.3640del (p.Ala1214fs) Deletion Pathogenic 650524 rs1577095782 GRCh37: 4:5567004-5567004
GRCh38: 4:5565277-5565277
22 EVC2 NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) SNV Pathogenic 656440 rs781623802 GRCh37: 4:5624673-5624673
GRCh38: 4:5622946-5622946
23 EVC2 NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) SNV Pathogenic 658689 rs1577170055 GRCh37: 4:5624397-5624397
GRCh38: 4:5622670-5622670
24 EVC2 NM_147127.5(EVC2):c.707-2A>C SNV Pathogenic 653886 rs1302074641 GRCh37: 4:5687208-5687208
GRCh38: 4:5685481-5685481
25 EVC2 NC_000004.12:g.(?_5568434)_(5568650_?)del Deletion Pathogenic 830445 GRCh37: 4:5570161-5570377
GRCh38:
26 EVC2 NC_000004.12:g.(?_5562848)_(5565369_?)del Deletion Pathogenic 830808 GRCh37: 4:5564575-5567096
GRCh38:
27 overlap with 2 genes NC_000004.12:g.(?_5562838)_(5758135_?)del Deletion Pathogenic 832223 GRCh37: 4:5564565-5759862
GRCh38:
28 EVC2 NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) Duplication Pathogenic 555651 rs1553855127 GRCh37: 4:5710114-5710115
GRCh38: 4:5708387-5708388
29 EVC NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) SNV Pathogenic 835115 GRCh37: 4:5803818-5803818
GRCh38: 4:5802091-5802091
30 EVC2 NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) Duplication Pathogenic 838376 GRCh37: 4:5570272-5570273
GRCh38: 4:5568545-5568546
31 EVC2 NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) SNV Pathogenic 280117 rs548681312 GRCh37: 4:5624289-5624289
GRCh38: 4:5622562-5622562
32 EVC NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) SNV Pathogenic 839382 GRCh37: 4:5798876-5798876
GRCh38: 4:5797149-5797149
33 EVC2 NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) SNV Pathogenic 553315 rs770918273 GRCh37: 4:5624281-5624281
GRCh38: 4:5622554-5622554
34 EVC2 NM_147127.5(EVC2):c.199_208del (p.Ser67fs) Deletion Pathogenic 555475 rs1420414097 GRCh37: 4:5710033-5710042
GRCh38: 4:5708306-5708315
35 EVC NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) SNV Pathogenic 553266 rs764397417 GRCh37: 4:5785393-5785393
GRCh38: 4:5783666-5783666
36 EVC2 NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) SNV Pathogenic 845073 GRCh37: 4:5620372-5620372
GRCh38: 4:5618645-5618645
37 EVC NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) SNV Pathogenic 5339 rs121908424 GRCh37: 4:5810001-5810001
GRCh38: 4:5808274-5808274
38 EVC NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) SNV Pathogenic 446662 rs748523193 GRCh37: 4:5731096-5731096
GRCh38: 4:5729369-5729369
39 EVC2 NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) SNV Pathogenic 846041 GRCh37: 4:5578099-5578099
GRCh38: 4:5576372-5576372
40 EVC NM_153717.3(EVC):c.155del (p.Arg52fs) Deletion Pathogenic 848615 GRCh37: 4:5713262-5713262
GRCh38: 4:5711535-5711535
41 EVC2 NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) SNV Pathogenic 848665 GRCh37: 4:5633624-5633624
GRCh38: 4:5631897-5631897
42 EVC2 NM_147127.5(EVC2):c.871-2_894del Deletion Pathogenic 553798 rs755789146 GRCh37: 4:5667353-5667378
GRCh38: 4:5665626-5665651
43 EVC NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) SNV Pathogenic 850722 GRCh37: 4:5811287-5811287
GRCh38: 4:5809560-5809560
44 EVC2 NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) SNV Pathogenic 851235 GRCh37: 4:5690922-5690922
GRCh38: 4:5689195-5689195
45 EVC NM_153717.3(EVC):c.2894+3A>G SNV Pathogenic 488510 rs1424976594 GRCh37: 4:5812180-5812180
GRCh38: 4:5810453-5810453
46 EVC NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) SNV Pathogenic 451398 rs1553891936 GRCh37: 4:5800379-5800379
GRCh38: 4:5798652-5798652
47 EVC2 NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) Duplication Pathogenic 851655 GRCh37: 4:5576425-5576426
GRCh38: 4:5574698-5574699
48 EVC2 NM_147127.5(EVC2):c.3446_3453CAGCCTCA[3] (p.Gln1154fs) Microsatellite Pathogenic 854737 GRCh37: 4:5570266-5570267
GRCh38: 4:5568539-5568540
49 EVC2 NM_147127.5(EVC2):c.824_825CA[1] (p.Gln276fs) Microsatellite Pathogenic 854827 GRCh37: 4:5683030-5683031
GRCh38: 4:5681303-5681304
50 EVC2 NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) SNV Pathogenic 855091 GRCh37: 4:5624367-5624367
GRCh38: 4:5622640-5622640

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

72
# 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

Pathways related to Weyers Acrofacial Dysostosis according to KEGG:

36
# 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
13.76 WDR35 WDR19 TTC21B IQCE IFT172 IFT140
2
Show member pathways
12.62 WDR35 WDR19 TTC21B IFT80 IFT43 IFT172
3
Show member pathways
12.24 WDR35 WDR19 TTC21B IQCE IFT172 IFT140
4 11.31 IQCE EVC2 EVC EFCAB7
5 10.98 WDR35 WDR19 TTC21B IFT80 IFT43 IFT172

GO Terms for Weyers Acrofacial Dysostosis

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.4 WDR35 WDR19 TTC21B NEK1 IFT80 IFT43
2 cytoskeleton GO:0005856 10.13 WDR35 WDR19 TTC21B NEK1 IFT80 IFT43
3 centrosome GO:0005813 9.97 WDR35 NEK1 IFT80 IFT140 DYNC2I2 DYNC2I1
4 microtubule organizing center GO:0005815 9.95 WDR35 NEK1 IFT140 DYNC2I2 DYNC2I1
5 ciliary basal body GO:0036064 9.91 WDR35 IFT80 IFT172 IFT140 IFT122 EVC
6 ciliary tip GO:0097542 9.9 WDR35 WDR19 TTC21B IFT80 IFT43 IFT172
7 cell projection GO:0042995 9.83 WDR35 WDR19 TTC21B IQCE IFT80 IFT43
8 axoneme GO:0005930 9.8 WDR35 IFT172 IFT140 DYNC2I2 DYNC2H1
9 ciliary membrane GO:0060170 9.76 IQCE EVC2 EVC EFCAB7
10 intraciliary transport particle A GO:0030991 9.73 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
11 photoreceptor connecting cilium GO:0032391 9.71 WDR19 IFT140 IFT122
12 non-motile cilium GO:0097730 9.69 WDR19 IFT140 IFT122
13 cytoplasmic dynein complex GO:0005868 9.65 DYNC2I2 DYNC2I1 DYNC2H1
14 plasma membrane protein complex GO:0098797 9.61 EVC2 EVC EFCAB7
15 pericentriolar material GO:0000242 9.58 NEK1 DYNC2I1
16 intraciliary transport particle B GO:0030992 9.57 IFT80 IFT172
17 ciliary plasm GO:0097014 9.52 DYNC2I2 DYNC2I1
18 cilium GO:0005929 9.5 WDR35 WDR19 TTC21B IQCE IFT80 IFT43

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.92 WDR35 WDR19 NEK1 IFT43 IFT140 IFT122
2 smoothened signaling pathway GO:0007224 9.85 WDR19 TTC21B IFT80 IFT172 EVC2 EVC
3 non-motile cilium assembly GO:1905515 9.83 IFT80 IFT172 IFT140 IFT122 DYNC2H1
4 intraciliary retrograde transport GO:0035721 9.81 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
5 protein localization to cilium GO:0061512 9.8 WDR35 TTC21B IFT140 IFT122 DYNC2H1
6 intraciliary transport GO:0042073 9.73 WDR35 IFT172 IFT140 IFT122 DYNC2I2 DYNC2I1
7 microtubule-based movement GO:0007018 9.7 DYNC2I2 DYNC2I1 DYNC2H1
8 cilium assembly GO:0060271 9.7 WDR35 WDR19 NEK1 IFT80 IFT43 IFT172
9 determination of left/right symmetry GO:0007368 9.69 IFT172 IFT140 DYNC2H1
10 limb development GO:0060173 9.67 IFT80 IFT172 IFT122
11 positive regulation of smoothened signaling pathway GO:0045880 9.65 IFT172 EVC DYNC2H1
12 regulation of smoothened signaling pathway GO:0008589 9.63 TTC21B IFT172 IFT140
13 embryonic cranial skeleton morphogenesis GO:0048701 9.58 WDR19 IFT140
14 negative regulation of smoothened signaling pathway GO:0045879 9.57 IFT172 IFT122
15 limb morphogenesis GO:0035108 9.56 IQCE IFT140
16 spinal cord motor neuron differentiation GO:0021522 9.55 IFT172 DYNC2H1
17 embryonic camera-type eye development GO:0031076 9.54 WDR19 IFT140
18 intraciliary transport involved in cilium assembly GO:0035735 9.36 WDR35 WDR19 TTC21B IFT80 IFT43 IFT172

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

# Name GO ID Score Top Affiliating Genes
1 dynein heavy chain binding GO:0045504 8.96 DYNC2I2 DYNC2I1
2 dynein light chain binding GO:0045503 8.62 DYNC2I2 DYNC2I1

Sources for Weyers Acrofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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