Weyers Acrofacial Dysostosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

WAD MCID: WYR002 MIFTS: 36	Weyers Acrofacial Dysostosis (WAD) Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of skull and face bones

Mandibulofacial dysostosis

Orphanet: ⁶⁰

Rare bone diseases

Rare skin diseases

Developmental anomalies during embryogenesis

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

SNOMED-CT via HPO ⁷⁰ 11375002 16000003 205131007 more

UMLS ⁷⁴ C0457013

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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.

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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:

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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

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Drugs & Therapeutics for Weyers Acrofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Weyers Acrofacial Dysostosis

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Genetic Tests for Weyers Acrofacial Dysostosis

Genetic tests related to Weyers Acrofacial Dysostosis:

#	Genetic test	Affiliating Genes
1	Curry-Hall Syndrome ³⁰	EVC EVC2

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Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

⁴²

Skin, Kidney, Eye

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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 )	D'Asdia MC...De Luca A	2013
2	Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. ( 19810119 )	Valencia M...Ruiz-Perez VL	2009
3	Polydactyly with ectodermal defect, osteopenia, and mental delay. ( 18182642 )	Zannolli R...Hayek J	2008
4	Ellis-van Creveld and Weyers acrofacial dysostosis. ( 17942330 )	Rihani FB	2007
5	A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. ( 16404586 )	Ye X...Bian Z	2006
6	Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. ( 10700184 )	Ruiz-Perez VL...Goodship J	2000
7	Symptomatic heterozygosity in the Ellis-van Creveld syndrome? ( 7628126 )	Spranger S...Tariverdian G	1995
8	Brief clinical report: Curry-Hall syndrome. ( 6711608 )	Shapiro SD...Salinas CF	1984

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Genes for Weyers Acrofacial Dysostosis

Genes related to Weyers Acrofacial Dysostosis (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	1700	Molecular basis known ⁵⁸ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸	10700184 7628126 23220543
2	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	1367.8	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Publications (show sections)	16404586 19810119 23220543 (more) 18182642

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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

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Expression for Weyers Acrofacial Dysostosis

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

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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	Signaling by Hedgehog ⁶⁷ Show member pathways Activation of SMO ⁶⁷ Hedgehog off' state ⁶⁷ Hedgehog on' state ⁶⁷	11.49	EVC EVC2
2	Hedgehog Pathway ⁷³ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁷ Hedgehog signaling events mediated by Gli proteins ¹ Hedgehog signaling pathway ³⁸ Hedgehog Signaling Pathway ¹	10.73	EVC EVC2

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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

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Sources for Weyers Acrofacial Dysostosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Weyers Acrofacial Dysostosis (WAD)

Aliases & Classifications for Weyers Acrofacial Dysostosis

MalaCards integrated aliases for Weyers Acrofacial Dysostosis:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Weyers Acrofacial Dysostosis

Related Diseases for Weyers Acrofacial Dysostosis

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

Graphical network of the top 20 diseases related to Weyers Acrofacial Dysostosis:

Symptoms & Phenotypes for Weyers Acrofacial Dysostosis

Human phenotypes related to Weyers Acrofacial Dysostosis:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Weyers Acrofacial Dysostosis

Genetic Tests for Weyers Acrofacial Dysostosis

Genetic tests related to Weyers Acrofacial Dysostosis:

Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

Publications for Weyers Acrofacial Dysostosis

Articles related to Weyers Acrofacial Dysostosis:

Genes for Weyers Acrofacial Dysostosis

Genes related to Weyers Acrofacial Dysostosis (2 elite genes):

Variations for Weyers Acrofacial Dysostosis

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

ClinVar genetic disease variations for Weyers Acrofacial Dysostosis:

Expression for Weyers Acrofacial Dysostosis

Pathways for Weyers Acrofacial Dysostosis

Pathways related to Weyers Acrofacial Dysostosis according to KEGG:

Pathways related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

GO Terms for Weyers Acrofacial Dysostosis

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

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

Sources for Weyers Acrofacial Dysostosis