Waardenburg Syndrome, Type 4a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

WS4A MCID: WRD020 MIFTS: 46	Waardenburg Syndrome, Type 4a (WS4A) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Waardenburg Syndrome, Type 4a

MalaCards integrated aliases for Waardenburg Syndrome, Type 4a:

Name: Waardenburg Syndrome, Type 4a ⁵⁸ ¹³ ⁴¹ ⁷⁴

Waardenburg Syndrome Type 4a ¹² ³⁰ ⁶ ¹⁵

Shah-Waardenburg Syndrome ⁵⁸ ⁷⁶ ⁵⁶

Ws4a ⁵⁸ ¹² ⁷⁶

Waardenburg Syndrome with Hirschsprung Disease Type 4a ¹² ⁷⁶

Waardenburg Syndrome Type Iva ¹² ⁷⁶

Waardenburg-Shah Syndrome ⁵⁸ ⁷⁶

Waardenburg Syndrome with Hirschsprung Disease, Type 4a ⁵⁸

Hirschsprung Disease with Pigmentary Anomaly ⁷⁶

Waardenburg Syndrome, Type Iva ⁵⁸

Waardenburg Syndrome 4a ⁷⁶

Ws4 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity
variable severity, intrafamilial
incomplete penetance of some features
both homozygous and heterozygous ednrb mutations have been found

HPO:

³³

waardenburg syndrome, type 4a:
Inheritance heterogeneous autosomal dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Skin diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110953

OMIM ⁵⁸ 277580

MeSH ⁴⁵ D014849

MedGen ⁴³ C1848519

SNOMED-CT via HPO ⁷⁰ 103276001 14760008 15188001 more

UMLS ⁷⁴ C1848519

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Summaries for Waardenburg Syndrome, Type 4a

OMIM : ⁵⁸ Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (131244). (277580)

MalaCards based summary : Waardenburg Syndrome, Type 4a, also known as waardenburg syndrome type 4a, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome, type 2e. An important gene associated with Waardenburg Syndrome, Type 4a is EDNRB (Endothelin Receptor Type B), and among its related pathways/superpathways are Pathways in cancer and Neural Crest Differentiation. Affiliated tissues include skin, eye and thyroid, and related phenotypes are constipation and hearing impairment

Disease Ontology : ¹² A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has material basis in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.

UniProtKB/Swiss-Prot : ⁷⁶ Waardenburg syndrome 4A: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).

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Related Diseases for Waardenburg Syndrome, Type 4a

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3	Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a	Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b	Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d	Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b	Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 4a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)

#	Related Disease	Score	Top Affiliating Genes
1	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	32.2	EDN3 EDNRB MITF SOX10
2	waardenburg syndrome, type 2e	31.1	EDNRB MITF SOX10
3	waardenburg syndrome type 4	30.9	EDN3 EDNRB MITF SOX10
4	waardenburg syndrome, type 4b	30.9	EDN3 EDNRB MITF SOX10
5	waardenburg's syndrome	30.5	EDN3 EDNRB MITF RET SOX10
6	hirschsprung disease 1	28.8	EDN3 EDNRB MITF RET SOX10
7	waardenburg syndrome, type 4c	11.3
8	waardenburg syndrome, type 2b	11.1
9	waardenburg syndrome, type 2c	11.1
10	waardenburg syndrome, type 2d	11.1
11	down syndrome	10.2
12	aganglionosis, total intestinal	10.2
13	short bowel syndrome	10.2
14	microphthalmia	10.2
15	dermatitis	10.2
16	food allergy	10.2
17	sickle cell disease	10.2
18	dandy-walker complex	10.2
19	pulmonary hypertension, primary, 4	10.2
20	abcd syndrome	10.1	EDNRB EDNRB-AS1
21	hirschsprung disease 2	10.1	EDNRB EDNRB-AS1
22	multiple endocrine neoplasia, type iib	10.0	EDNRB RET
23	thyroid carcinoma, familial medullary	9.9	EDNRB RET
24	albinism, ocular, with late-onset sensorineural deafness	9.8	MITF SOX10
25	malignant spindle cell melanoma	9.8	MITF SOX10
26	intestinal pseudo-obstruction	9.8	EDNRB RET SOX10
27	breast angiosarcoma	9.8	MITF SOX10
28	tietz albinism-deafness syndrome	9.8	MITF SOX10
29	thyroid cancer, nonmedullary, 2	9.7	EDNRB RET
30	goldberg-shprintzen syndrome	9.7	EDN3 EDNRB RET
31	intestinal obstruction	9.7	EDN3 EDNRB RET
32	central hypoventilation syndrome, congenital	9.7	EDN3 EDNRB RET
33	familial renal papillary carcinoma	9.7	MITF RET
34	constipation	9.7	EDN3 EDNRB RET
35	neurofibroma	9.7	MITF SOX10
36	waardenburg syndrome, type 3	9.5	EDN3 MITF SOX10
37	dyschromatosis symmetrica hereditaria	9.5	EDN3 MITF SOX10
38	megacolon	9.5	EDN3 EDNRB RET SOX10
39	colonic disease	9.4	EDN3 EDNRB RET SOX10
40	cochlear disease	9.3	EDN3 EDNRB MITF SOX10
41	waardenburg syndrome, type 1	9.3	EDN3 EDNRB MITF SOX10
42	waardenburg syndrome, type 2a	9.0	EDN3 EDNRB EDNRB-AS1 MITF SOX10

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 4a:

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Symptoms & Phenotypes for Waardenburg Syndrome, Type 4a

Human phenotypes related to Waardenburg Syndrome, Type 4a:

³³ (show all 29)

#	Description	HPO Frequency	HPO Source Accession
1	constipation ³³	hallmark (90%)	HP:0002019
2	hearing impairment ³³	hallmark (90%)	HP:0000365
3	abnormality of vision ³³	hallmark (90%)	HP:0000504
4	intestinal obstruction ³³	hallmark (90%)	HP:0005214
5	premature graying of hair ³³	hallmark (90%)	HP:0002216
6	aganglionic megacolon ³³	hallmark (90%)	HP:0002251
7	white forelock ³³	hallmark (90%)	HP:0002211
8	white eyebrow ³³	hallmark (90%)	HP:0002226
9	white eyelashes ³³	hallmark (90%)	HP:0002227
10	abnormal macular morphology ³³	hallmark (90%)	HP:0001103
11	wide nasal bridge ³³	frequent (33%)	HP:0000431
12	abdominal pain ³³	frequent (33%)	HP:0002027
13	prominent nasal bridge ³³	frequent (33%)	HP:0000426
14	underdeveloped nasal alae ³³	frequent (33%)	HP:0000430
15	synophrys ³³	frequent (33%)	HP:0000664
16	olfactory lobe agenesis ³³	frequent (33%)	HP:0001341
17	abnormality of retinal pigmentation ³³	occasional (7.5%)	HP:0007703
18	telecanthus ³³	occasional (7.5%)	HP:0000506
19	nystagmus ³³		HP:0000639
20	ataxia ³³		HP:0001251
21	muscular hypotonia ³³		HP:0001252
22	global developmental delay ³³		HP:0001263
23	sensorineural hearing impairment ³³		HP:0000407
24	hypopigmented skin patches ³³		HP:0001053
25	heterochromia iridis ³³		HP:0001100
26	blue irides ³³		HP:0000635
27	polyneuropathy ³³		HP:0001271
28	leukodystrophy ³³		HP:0002415
29	spastic paraparesis ³³		HP:0002313

Symptoms via clinical synopsis from OMIM:

⁵⁸

Skin Nails Hair Skin:
hypopigmented skin patches

Skin Nails Hair Hair:
white forelock
white eyelashes
white eyebrows
premature graying

Abdomen Gastrointestinal:
hirschsprung disease
decreased myenteric and submucosal ganglia in the bowel

Head And Neck Eyes:
heterochromia iridis
bright blue irides
bicolored irides

Head And Neck Ears:
deafness, sensorineural

Clinical features from OMIM:

277580

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 4a:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.8	EDN3 EDNRB MITF RET SOX10
2	embryo	MP:0005380	9.72	EDN3 EDNRB MITF RET SOX10
3	digestive/alimentary	MP:0005381	9.67	EDN3 EDNRB RET SOX10
4	integument	MP:0010771	9.56	EDN3 EDNRB MITF SOX10
5	limbs/digits/tail	MP:0005371	9.46	EDNRB MITF RET SOX10
6	nervous system	MP:0003631	9.35	EDN3 EDNRB MITF RET SOX10
7	pigmentation	MP:0001186	8.92	EDN3 EDNRB MITF SOX10

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Drugs & Therapeutics for Waardenburg Syndrome, Type 4a

Search Clinical Trials , NIH Clinical Center for Waardenburg Syndrome, Type 4a

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Genetic Tests for Waardenburg Syndrome, Type 4a

Genetic tests related to Waardenburg Syndrome, Type 4a:

#	Genetic test	Affiliating Genes
1	Waardenburg Syndrome Type 4a ³⁰	EDNRB

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Anatomical Context for Waardenburg Syndrome, Type 4a

MalaCards organs/tissues related to Waardenburg Syndrome, Type 4a:

⁴²

Skin, Eye, Thyroid, Colon

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Publications for Waardenburg Syndrome, Type 4a

Articles related to Waardenburg Syndrome, Type 4a:

(show all 15)

#	Title	Authors	Year
1	Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child. ( 29275389 )	Patil A...Patil M	2017
2	A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome. ( 25852447 )	Doubaj Y...Sefiani A	2015
3	Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome. ( 23177999 )	Leechawengwongs E...Shearer WT	2013
4	Shah-Waardenburg syndrome. ( 23565307 )	Mahmoudi A...Youssef B	2013
5	Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature. ( 22754447 )	Ambi US...Samalad V	2012
6	Shah-Waardenburg syndrome. ( 18319036 )	Sankar R	2008
7	Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. ( 16504559 )	Verheij JB...van Essen AJ	2006
8	Shah Waardenburg syndrome. ( 16735772 )	Sarin YK...Manchanda V	2006
9	Shah-Waardenburg syndrome and Dandy-Walker malformation: an autopsy report. ( 12365727 )	Yoder BJ...Prayson RA	2002
10	A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. ( 11565556 )	Boardman JP...Lakhoo K	2001
11	Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. ( 10528251 )	Syrris P...Patton MA	1999
12	Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). ( 8630502 )	Edery P...Lyonnet S	1996
13	A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). ( 8630503 )	Hofstra RM...Buys CH	1996
14	Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. ( 8634719 )	Atti? T...Lyonnet S	1995
15	A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. ( 8001158 )	Puffenberger EG...Chakravart A	1994

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Genes for Waardenburg Syndrome, Type 4a

Genes related to Waardenburg Syndrome, Type 4a (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EDNRB	Endothelin Receptor Type B	Protein Coding	1359.98	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Risk factor ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Variants (show sections)	8630502 11484199 19764031 (more) 16237557 9279758 11891690 17999358
2	SOX10	SRY-Box 10	Protein Coding	427.43	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	12447940 10876038 20130826 (more) 9462749 16504559 18348274 20206619 11454798 19132125 17999358 16330480 11156606 9760192 9720918 15843399 16494873 16650841 11685702 11734543 10441344 10798354
3	EDN3	Endothelin 3	Protein Coding	26.55	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	8630503 11303518 9359047 (more) 9279758 17516928 17999358
4	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	19.54	Novoseek inferred ⁵⁶	17999358
5	RET	Ret Proto-Oncogene	Protein Coding	19.32	Novoseek inferred ⁵⁶	7643365
6	EDNRB-AS1	EDNRB Antisense RNA 1	RNA Gene	8.78	GeneCards inferred via : Variants (show sections)

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Variations for Waardenburg Syndrome, Type 4a

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 4a:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	EDNRB	p.Ala183Gly	VAR_003470	rs104894388
2	EDNRB	p.Phe292Leu	VAR_015294

ClinVar genetic disease variations for Waardenburg Syndrome, Type 4a:

⁶ (show all 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EDNRB	NM_000115.4(EDNRB): c.828G> T (p.Trp276Cys)	single nucleotide variant	Pathogenic	rs104894387	GRCh37	Chromosome 13, 78475316: 78475316
2	EDNRB	NM_000115.4(EDNRB): c.828G> T (p.Trp276Cys)	single nucleotide variant	Pathogenic	rs104894387	GRCh38	Chromosome 13, 77901181: 77901181
3	EDNRB	NM_000115.4(EDNRB): c.548C> G (p.Ala183Gly)	single nucleotide variant	Pathogenic	rs104894388	GRCh37	Chromosome 13, 78477678: 78477678
4	EDNRB	NM_000115.4(EDNRB): c.548C> G (p.Ala183Gly)	single nucleotide variant	Pathogenic	rs104894388	GRCh38	Chromosome 13, 77903543: 77903543
5	EDNRB	NM_000115.4(EDNRB): c.914G> A (p.Ser305Asn)	single nucleotide variant	risk factor	rs5352	GRCh37	Chromosome 13, 78475230: 78475230
6	EDNRB	NM_000115.4(EDNRB): c.914G> A (p.Ser305Asn)	single nucleotide variant	risk factor	rs5352	GRCh38	Chromosome 13, 77901095: 77901095
7	EDNRB	NM_000115.4(EDNRB): c.757C> T (p.Arg253Ter)	single nucleotide variant	Pathogenic	rs104894390	GRCh37	Chromosome 13, 78477335: 78477335
8	EDNRB	NM_000115.4(EDNRB): c.757C> T (p.Arg253Ter)	single nucleotide variant	Pathogenic	rs104894390	GRCh38	Chromosome 13, 77903200: 77903200
9	EDNRB	NM_000115.4(EDNRB): c.601C> T (p.Arg201Ter)	single nucleotide variant	Pathogenic	rs104894391	GRCh37	Chromosome 13, 78477491: 78477491
10	EDNRB	NM_000115.4(EDNRB): c.601C> T (p.Arg201Ter)	single nucleotide variant	Pathogenic	rs104894391	GRCh38	Chromosome 13, 77903356: 77903356
11	EDNRB	NM_001201397.1(EDNRB): c.673G> A (p.Gly225Ser)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 13, 78492306: 78492306
12	EDNRB	NM_001201397.1(EDNRB): c.673G> A (p.Gly225Ser)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 13, 77918171: 77918171
13	EDNRB	NM_001201397.1(EDNRB): c.327C> A (p.Cys109Ter)	single nucleotide variant	Pathogenic/Likely pathogenic		GRCh37	Chromosome 13, 78492652: 78492652
14	EDNRB	NM_001201397.1(EDNRB): c.327C> A (p.Cys109Ter)	single nucleotide variant	Pathogenic/Likely pathogenic		GRCh38	Chromosome 13, 77918517: 77918517
15	EDNRB	NM_000115.4(EDNRB): c.973G> A (p.Val325Ile)	single nucleotide variant	Uncertain significance	rs201437745	GRCh37	Chromosome 13, 78474768: 78474768
16	EDNRB	NM_000115.4(EDNRB): c.973G> A (p.Val325Ile)	single nucleotide variant	Uncertain significance	rs201437745	GRCh38	Chromosome 13, 77900633: 77900633
17	EDNRB	NM_000115.4(EDNRB): c.550T> C (p.Ser184Pro)	single nucleotide variant	Likely pathogenic	rs1555290659	GRCh37	Chromosome 13, 78477676: 78477676
18	EDNRB	NM_000115.4(EDNRB): c.550T> C (p.Ser184Pro)	single nucleotide variant	Likely pathogenic	rs1555290659	GRCh38	Chromosome 13, 77903541: 77903541
19	EDNRB	NM_000115.4(EDNRB): c.521del (p.Cys174Leufs)	deletion	Pathogenic	rs1458799604	GRCh37	Chromosome 13, 78477705: 78477705
20	EDNRB	NM_000115.4(EDNRB): c.521del (p.Cys174Leufs)	deletion	Pathogenic	rs1458799604	GRCh38	Chromosome 13, 77903570: 77903570
21	EDNRB	NM_001201397.1(EDNRB): c.1061C> T (p.Ala354Val)	single nucleotide variant	Uncertain significance	rs1212186974	GRCh38	Chromosome 13, 77903166: 77903166
22	EDNRB	NM_001201397.1(EDNRB): c.1061C> T (p.Ala354Val)	single nucleotide variant	Uncertain significance	rs1212186974	GRCh37	Chromosome 13, 78477301: 78477301
23	EDNRB	NM_001201397.1(EDNRB): c.1048G> T (p.Val350Phe)	single nucleotide variant	not provided		GRCh37	Chromosome 13, 78477314: 78477314
24	EDNRB	NM_001201397.1(EDNRB): c.1048G> T (p.Val350Phe)	single nucleotide variant	not provided		GRCh38	Chromosome 13, 77903179: 77903179
25	SOX10	NM_006941.3(SOX10): c.429-1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 22, 38374143: 38374143
26	SOX10	NM_006941.3(SOX10): c.429-1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 22, 37978136: 37978136
27	SOX10	NM_006941.3: c.1315_1329del	deletion	Pathogenic		GRCh38	Chromosome 22, 37973568: 37973582
28	SOX10	NM_006941.3: c.1315_1329del	deletion	Pathogenic		GRCh37	Chromosome 22, 38369574: 38369588

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Expression for Waardenburg Syndrome, Type 4a

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 4a.

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Pathways for Waardenburg Syndrome, Type 4a

Pathways related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Pathways in cancer ³⁸	12.06	EDNRB MITF RET
2	Neural Crest Differentiation ¹	11.27	MITF SOX10
3	Endothelins ¹	10.68	EDN3 EDNRB
4	Melanocyte Development and Pigmentation ⁶⁵	10.24	MITF SOX10

Sources

GO Terms for Waardenburg Syndrome, Type 4a

Biological processes related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription, DNA-templated	GO:0045893	9.69	MITF RET SOX10
2	positive regulation of gene expression	GO:0010628	9.67	MITF RET SOX10
3	negative regulation of apoptotic process	GO:0043066	9.54	EDNRB MITF SOX10
4	pigmentation	GO:0043473	9.48	EDNRB MITF
5	peripheral nervous system development	GO:0007422	9.46	EDNRB SOX10
6	response to pain	GO:0048265	9.43	EDNRB RET
7	vasoconstriction	GO:0042310	9.4	EDN3 EDNRB
8	enteric nervous system development	GO:0048484	9.33	EDNRB RET SOX10
9	vein smooth muscle contraction	GO:0014826	9.32	EDN3 EDNRB
10	posterior midgut development	GO:0007497	9.26	EDNRB RET
11	neural crest cell migration	GO:0001755	9.26	EDN3 EDNRB RET SOX10
12	melanocyte differentiation	GO:0030318	8.92	EDN3 EDNRB MITF SOX10

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Sources for Waardenburg Syndrome, Type 4a

¹ BioSystems

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²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

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⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

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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

Waardenburg Syndrome, Type 4a (WS4A)

Aliases & Classifications for Waardenburg Syndrome, Type 4a

MalaCards integrated aliases for Waardenburg Syndrome, Type 4a:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Waardenburg Syndrome, Type 4a

Related Diseases for Waardenburg Syndrome, Type 4a

Diseases in the Waardenburg's Syndrome family:

Diseases related to Waardenburg Syndrome, Type 4a via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 4a:

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4a

Human phenotypes related to Waardenburg Syndrome, Type 4a:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 4a:

Drugs & Therapeutics for Waardenburg Syndrome, Type 4a

Genetic Tests for Waardenburg Syndrome, Type 4a

Genetic tests related to Waardenburg Syndrome, Type 4a:

Anatomical Context for Waardenburg Syndrome, Type 4a

MalaCards organs/tissues related to Waardenburg Syndrome, Type 4a:

Publications for Waardenburg Syndrome, Type 4a

Articles related to Waardenburg Syndrome, Type 4a:

Genes for Waardenburg Syndrome, Type 4a

Genes related to Waardenburg Syndrome, Type 4a (2 elite genes):

Variations for Waardenburg Syndrome, Type 4a

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 4a:

ClinVar genetic disease variations for Waardenburg Syndrome, Type 4a:

Expression for Waardenburg Syndrome, Type 4a

Pathways for Waardenburg Syndrome, Type 4a

Pathways related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:

GO Terms for Waardenburg Syndrome, Type 4a

Biological processes related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:

Sources for Waardenburg Syndrome, Type 4a