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

WAD MCID: WYR002 MIFTS: 37	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 ⁵⁷ ⁵³ ²⁵ ⁵⁹ ⁷⁵ ⁷³

Curry-Hall Syndrome ⁵⁷ ²⁵ ⁵⁹ ⁷⁵ ²⁹ ⁶

Weyers Acrodental Dysostosis ²⁵ ⁵⁹ ³⁷ 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare bone diseases

Rare skin diseases

Developmental anomalies during embryogenesis

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

KEGG ³⁷ H02158

SNOMED-CT via HPO ⁶⁹ 263681008 44593008 64969001 more

UMLS ⁷³ C0457013

Sources

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 Hedgehog signaling pathway and Signaling by Hedgehog. 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.

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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 18)

#	Related Disease	Score	Top Affiliating Genes
1	acrofacial dysostosis	30.6	EVC2 EVC
2	dysostosis	30.6	EVC2 EVC
3	ellis-van creveld syndrome	30.5	EVC2 EVC
4	whiplash	10.8
5	cystic kidney disease	10.1
6	fish-eye disease	10.0
7	migraine with or without aura 1	10.0
8	malaria	10.0
9	plasmodium falciparum malaria	10.0
10	volkmann contracture	10.0
11	compartment syndrome	10.0
12	chronic fatigue syndrome	10.0
13	pain - chronic	10.0
14	polydactyly, postaxial, type a1	9.8	EVC2 EVC
15	clouston syndrome	9.8	EVC2 EVC
16	short-rib thoracic dysplasia 6 with or without polydactyly	9.8	EVC2 EVC
17	atrioventricular septal defect	9.8	EVC2 EVC
18	heart disease	9.7	EVC2 EVC

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

Sources

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	abnormal toenail morphology ⁵⁹		Very frequent (99-80%)
25	prominent antihelix ³²			HP:0000395
26	abnormal oral frenulum morphology ³²	hallmark (90%)		HP:0000190

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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 ²⁹	EVC EVC2

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Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

⁴¹

Bone, Heart, Skin, Kidney

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Publications for Weyers Acrofacial Dysostosis

Articles related to Weyers Acrofacial Dysostosis:

#	Title	Authors	Year
1	Ellis-van Creveld and Weyers acrofacial dysostosis. ( 17942330 )	Rihani F.B.	2007
2	A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. ( 16404586 )		2006
3	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 ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷	10700184 7628126 23220543
2	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	1367.79	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)	19810119 18182642 23220543 (more) 16404586

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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 465)

#	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.1328G> A (p.Arg443Gln)	single nucleotide variant	Benign	rs35953626	GRCh37	Chromosome 4, 5755524: 5755524
4	EVC	NM_153717.2(EVC): c.1328G> A (p.Arg443Gln)	single nucleotide variant	Benign	rs35953626	GRCh38	Chromosome 4, 5753797: 5753797
5	EVC	NM_153717.2(EVC): c.919T> C (p.Ser307Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121908426	GRCh37	Chromosome 4, 5747048: 5747048
6	EVC	NM_153717.2(EVC): c.919T> C (p.Ser307Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121908426	GRCh38	Chromosome 4, 5745321: 5745321
7	EVC2	EVC2, 3797T-G, LEU1266TER	single nucleotide variant	Pathogenic
8	EVC2	EVC2, 3797T-A, LEU1266TER	single nucleotide variant	Pathogenic
9	EVC2	EVC2, GLY1269TER	single nucleotide variant	Pathogenic
10	EVC	NM_153717.2(EVC): c.1346C> A (p.Thr449Lys)	single nucleotide variant	Benign	rs2302075	GRCh37	Chromosome 4, 5755542: 5755542
11	EVC	NM_153717.2(EVC): c.1346C> A (p.Thr449Lys)	single nucleotide variant	Benign	rs2302075	GRCh38	Chromosome 4, 5753815: 5753815
12	EVC	NM_153717.2(EVC): c.1320T> A (p.Phe440Leu)	single nucleotide variant	Benign	rs60582583	GRCh37	Chromosome 4, 5755516: 5755516
13	EVC	NM_153717.2(EVC): c.1320T> A (p.Phe440Leu)	single nucleotide variant	Benign	rs60582583	GRCh38	Chromosome 4, 5753789: 5753789
14	EVC; EVC2	NM_147127.4(EVC2): c.122C> A (p.Pro41His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs544397395	GRCh37	Chromosome 4, 5710119: 5710119
15	EVC; EVC2	NM_147127.4(EVC2): c.122C> A (p.Pro41His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs544397395	GRCh38	Chromosome 4, 5708392: 5708392
16	EVC	NM_153717.2(EVC): c.8G> C (p.Arg3Pro)	single nucleotide variant	Uncertain significance	rs756852655	GRCh37	Chromosome 4, 5713115: 5713115
17	EVC	NM_153717.2(EVC): c.8G> C (p.Arg3Pro)	single nucleotide variant	Uncertain significance	rs756852655	GRCh38	Chromosome 4, 5711388: 5711388
18	EVC2	NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141287105	GRCh37	Chromosome 4, 5642347: 5642347
19	EVC2	NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141287105	GRCh38	Chromosome 4, 5640620: 5640620
20	EVC	NM_153717.2(EVC): c.1826G> A (p.Arg609Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41269557	GRCh37	Chromosome 4, 5795384: 5795384
21	EVC	NM_153717.2(EVC): c.1826G> A (p.Arg609Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41269557	GRCh38	Chromosome 4, 5793657: 5793657
22	EVC	NM_153717.2(EVC): c.1855G> A (p.Val619Ile)	single nucleotide variant	Benign/Likely benign	rs111293777	GRCh37	Chromosome 4, 5795413: 5795413
23	EVC	NM_153717.2(EVC): c.1855G> A (p.Val619Ile)	single nucleotide variant	Benign/Likely benign	rs111293777	GRCh38	Chromosome 4, 5793686: 5793686
24	EVC2	NM_147127.4(EVC2): c.2151C> T (p.His717=)	single nucleotide variant	Benign/Likely benign	rs144584049	GRCh37	Chromosome 4, 5624614: 5624614
25	EVC2	NM_147127.4(EVC2): c.2151C> T (p.His717=)	single nucleotide variant	Benign/Likely benign	rs144584049	GRCh38	Chromosome 4, 5622887: 5622887
26	EVC	NM_153717.2(EVC): c.284A> G (p.Asp95Gly)	single nucleotide variant	Benign/Likely benign	rs41269547	GRCh37	Chromosome 4, 5721084: 5721084
27	EVC	NM_153717.2(EVC): c.284A> G (p.Asp95Gly)	single nucleotide variant	Benign/Likely benign	rs41269547	GRCh38	Chromosome 4, 5719357: 5719357
28	EVC2	NM_147127.4(EVC2): c.3557+10G> A	single nucleotide variant	Benign/Likely benign	rs116218656	GRCh37	Chromosome 4, 5570161: 5570161
29	EVC2	NM_147127.4(EVC2): c.3557+10G> A	single nucleotide variant	Benign/Likely benign	rs116218656	GRCh38	Chromosome 4, 5568434: 5568434
30	EVC	NM_153717.2(EVC): c.473C> G (p.Ser158Cys)	single nucleotide variant	Benign/Likely benign	rs150284356	GRCh37	Chromosome 4, 5733240: 5733240
31	EVC	NM_153717.2(EVC): c.473C> G (p.Ser158Cys)	single nucleotide variant	Benign/Likely benign	rs150284356	GRCh38	Chromosome 4, 5731513: 5731513
32	EVC	NM_153717.2(EVC): c.469C> G (p.Pro157Ala)	single nucleotide variant	Likely benign	rs146729456	GRCh37	Chromosome 4, 5733236: 5733236
33	EVC	NM_153717.2(EVC): c.469C> G (p.Pro157Ala)	single nucleotide variant	Likely benign	rs146729456	GRCh38	Chromosome 4, 5731509: 5731509
34	EVC	NM_153717.2(EVC): c.769C> T (p.Leu257=)	single nucleotide variant	Benign	rs6446393	GRCh37	Chromosome 4, 5743509: 5743509
35	EVC	NM_153717.2(EVC): c.769C> T (p.Leu257=)	single nucleotide variant	Benign	rs6446393	GRCh38	Chromosome 4, 5741782: 5741782
36	EVC	NM_153717.2(EVC): c.772T> C (p.Tyr258His)	single nucleotide variant	Benign	rs6414624	GRCh37	Chromosome 4, 5743512: 5743512
37	EVC	NM_153717.2(EVC): c.772T> C (p.Tyr258His)	single nucleotide variant	Benign	rs6414624	GRCh38	Chromosome 4, 5741785: 5741785
38	EVC	NM_153717.2(EVC): c.780G> A (p.Lys260=)	single nucleotide variant	Benign	rs41269555	GRCh37	Chromosome 4, 5743520: 5743520
39	EVC	NM_153717.2(EVC): c.780G> A (p.Lys260=)	single nucleotide variant	Benign	rs41269555	GRCh38	Chromosome 4, 5741793: 5741793
40	EVC	NM_153717.2(EVC): c.1127C> T (p.Ala376Val)	single nucleotide variant	Benign/Likely benign	rs142535134	GRCh37	Chromosome 4, 5754591: 5754591
41	EVC	NM_153717.2(EVC): c.1127C> T (p.Ala376Val)	single nucleotide variant	Benign/Likely benign	rs142535134	GRCh38	Chromosome 4, 5752864: 5752864
42	EVC2	NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala)	single nucleotide variant	Benign/Likely benign	rs73063795	GRCh37	Chromosome 4, 5642327: 5642327
43	EVC2	NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala)	single nucleotide variant	Benign/Likely benign	rs73063795	GRCh38	Chromosome 4, 5640600: 5640600
44	EVC2	NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu)	single nucleotide variant	Benign/Likely benign	rs60809236	GRCh38	Chromosome 4, 5584657: 5584657
45	EVC2	NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu)	single nucleotide variant	Benign/Likely benign	rs60809236	GRCh37	Chromosome 4, 5586384: 5586384
46	EVC2	NM_147127.4(EVC2): c.2235A> G (p.Glu745=)	single nucleotide variant	Benign	rs60121553	GRCh38	Chromosome 4, 5622803: 5622803
47	EVC2	NM_147127.4(EVC2): c.2235A> G (p.Glu745=)	single nucleotide variant	Benign	rs60121553	GRCh37	Chromosome 4, 5624530: 5624530
48	EVC2	NM_147127.4(EVC2): c.2046+5A> G	single nucleotide variant	Benign	rs6850875	GRCh38	Chromosome 4, 5625744: 5625744
49	EVC2	NM_147127.4(EVC2): c.2046+5A> G	single nucleotide variant	Benign	rs6850875	GRCh37	Chromosome 4, 5627471: 5627471
50	EVC2	NM_147127.4(EVC2): c.675A> G (p.Gly225=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74930168	GRCh38	Chromosome 4, 5689188: 5689188

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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:

³⁷

#	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 ⁶⁶ Show member pathways Activation of SMO ⁶⁶ Hedgehog off' state ⁶⁶ Hedgehog on' state ⁶⁶	11.49	EVC EVC2
2	Hedgehog Pathway ⁷² Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶ Hedgehog signaling events mediated by Gli proteins ¹ Hedgehog signaling pathway ³⁷ 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

Sources

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

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¹⁶ DrugBank

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Weyers Acrofacial Dysostosis:

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