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

WS4A MCID: WRD020 MIFTS: 48	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 ⁵⁷ ¹³ ⁴⁰ ⁷³

Waardenburg Syndrome Type 4a ¹² ²⁹ ⁶ ¹⁵

Shah-Waardenburg Syndrome ⁵⁷ ⁷⁵ ⁵⁵

Ws4a ⁵⁷ ¹² ⁷⁵

Waardenburg Syndrome with Hirschsprung Disease Type 4a ¹² ⁷⁵

Waardenburg Syndrome Type Iva ¹² ⁷⁵

Waardenburg-Shah Syndrome ⁵⁷ ⁷⁵

Waardenburg Syndrome with Hirschsprung Disease, Type 4a ⁵⁷

Hirschsprung Disease with Pigmentary Anomaly ⁷⁵

Waardenburg Syndrome, Type Iva ⁵⁷

Waardenburg Syndrome 4a ⁷⁵

Ws4 ⁵⁷

Characteristics:

OMIM:

⁵⁷

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:

³²

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

OMIM ⁵⁷ 277580

Disease Ontology ¹² DOID:0110953

MedGen ⁴² C1848519

MeSH ⁴⁴ D014849

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 103276001 more

UMLS ⁷³ C1848519

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Summaries for Waardenburg Syndrome, Type 4a

OMIM : ⁵⁷ 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 4. 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 colon, and related phenotypes are nystagmus and ataxia

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 : ⁷⁵ 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 41)

#	Related Disease	Score	Top Affiliating Genes
1	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	32.5	EDN3 EDNRB MITF SOX10 SRY
2	waardenburg syndrome type 4	31.5	EDN3 EDNRB MITF SOX10
3	waardenburg syndrome, type 2e	31.4	EDNRB MITF SOX10
4	waardenburg syndrome, type 4b	31.2	EDN3 EDNRB MITF SOX10 SRY
5	waardenburg's syndrome	31.0	EDN3 EDNRB MITF RET SOX10
6	hirschsprung disease 1	29.4	EDN3 EDNRB MITF RET SOX10
7	waardenburg syndrome, type 4c	11.3
8	waardenburg syndrome, type 2b	11.0
9	waardenburg syndrome, type 2c	11.0
10	waardenburg syndrome, type 2d	11.0
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	dandy-walker complex	10.2
18	abcd syndrome	10.1	EDNRB EDNRB-AS1
19	hirschsprung disease 2	10.1	EDNRB EDNRB-AS1
20	albinism, ocular, with late-onset sensorineural deafness	10.0	MITF SOX10
21	malignant spindle cell melanoma	10.0	MITF SOX10
22	breast angiosarcoma	10.0	MITF SOX10
23	tietz albinism-deafness syndrome	10.0	MITF SOX10
24	campomelic dysplasia	9.9	SOX10 SRY
25	neurofibroma	9.9	MITF SOX10
26	multiple endocrine neoplasia, type iib	9.9	EDNRB RET
27	waardenburg syndrome, type 3	9.8	EDN3 MITF SOX10
28	dyschromatosis symmetrica hereditaria	9.8	EDN3 MITF SOX10
29	thyroid carcinoma, familial medullary	9.8	EDNRB RET
30	familial renal papillary carcinoma	9.8	MITF RET
31	intestinal pseudo-obstruction	9.8	EDNRB RET SOX10
32	goldberg-shprintzen syndrome	9.8	EDN3 EDNRB RET
33	intestinal obstruction	9.8	EDN3 EDNRB RET
34	central hypoventilation syndrome, congenital	9.8	EDN3 EDNRB RET
35	constipation	9.8	EDN3 EDNRB RET
36	thyroid cancer, nonmedullary, 2	9.7	EDNRB RET
37	cochlear disease	9.7	EDN3 EDNRB MITF SOX10
38	waardenburg syndrome, type 1	9.7	EDN3 EDNRB MITF SOX10
39	megacolon	9.6	EDN3 EDNRB RET SOX10
40	colonic disease	9.6	EDN3 EDNRB RET SOX10
41	waardenburg syndrome, type 2a	9.5	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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Waardenburg Syndrome, Type 4a:

³² (show all 29)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³²		HP:0000639
2	ataxia ³²		HP:0001251
3	muscular hypotonia ³²		HP:0001252
4	constipation ³²	hallmark (90%)	HP:0002019
5	hearing impairment ³²	hallmark (90%)	HP:0000365
6	global developmental delay ³²		HP:0001263
7	wide nasal bridge ³²	frequent (33%)	HP:0000431
8	sensorineural hearing impairment ³²		HP:0000407
9	abnormality of retinal pigmentation ³²	occasional (7.5%)	HP:0007703
10	abnormality of vision ³²	hallmark (90%)	HP:0000504
11	abdominal pain ³²	frequent (33%)	HP:0002027
12	hypopigmented skin patches ³²		HP:0001053
13	intestinal obstruction ³²	hallmark (90%)	HP:0005214
14	prominent nasal bridge ³²	frequent (33%)	HP:0000426
15	underdeveloped nasal alae ³²	frequent (33%)	HP:0000430
16	telecanthus ³²	occasional (7.5%)	HP:0000506
17	heterochromia iridis ³²		HP:0001100
18	premature graying of hair ³²	hallmark (90%)	HP:0002216
19	aganglionic megacolon ³²	hallmark (90%)	HP:0002251
20	blue irides ³²		HP:0000635
21	white forelock ³²	hallmark (90%)	HP:0002211
22	synophrys ³²	frequent (33%)	HP:0000664
23	white eyebrow ³²	hallmark (90%)	HP:0002226
24	white eyelashes ³²	hallmark (90%)	HP:0002227
25	polyneuropathy ³²		HP:0001271
26	leukodystrophy ³²		HP:0002415
27	spastic paraparesis ³²		HP:0002313
28	olfactory lobe agenesis ³²	frequent (33%)	HP:0001341
29	abnormal macular morphology ³²	hallmark (90%)	HP:0001103

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	9.56	EDN3 EDNRB RET SOX10
2	embryo	MP:0005380	9.55	EDN3 EDNRB MITF RET SOX10
3	limbs/digits/tail	MP:0005371	9.26	EDNRB MITF RET SOX10
4	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 ²⁹	EDNRB

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Anatomical Context for Waardenburg Syndrome, Type 4a

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

⁴¹

Skin, Eye, Colon, Thyroid

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Publications for Waardenburg Syndrome, Type 4a

Articles related to Waardenburg Syndrome, Type 4a:

(show all 12)

#	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 J.B....van Essen A.J.	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 J.P....Lakhoo K.	2001
11	Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). ( 8630502 )	Edery P....Lyonnet S.	1996
12	A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah- Waardenburg syndrome). ( 8630503 )		1996

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Genes for Waardenburg Syndrome, Type 4a

Genes related to Waardenburg Syndrome, Type 4a (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EDNRB	Endothelin Receptor Type B	Protein Coding	1359.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Risk factor ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Variants (show sections)	8630502 11484199 19764031 (more) 16237557 9279758 11891690 17999358
2	SOX10	SRY-Box 10	Protein Coding	27.3	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	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	26.31	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	8630503 11303518 9359047 (more) 9279758 17516928 17999358
4	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	19.54	Novoseek inferred ⁵⁵	17999358
5	RET	Ret Proto-Oncogene	Protein Coding	19.32	Novoseek inferred ⁵⁵	7643365
6	SRY	Sex Determining Region Y	Protein Coding	14.86	DISEASES inferred ¹⁵
7	EDNRB-AS1	EDNRB Antisense RNA 1	RNA Gene	8.23	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:

⁷⁵

#	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 20)

#	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_000115.4(EDNRB): c.973G> A (p.Val325Ile)	single nucleotide variant	Uncertain significance	rs201437745	GRCh37	Chromosome 13, 78474768: 78474768
12	EDNRB	NM_000115.4(EDNRB): c.973G> A (p.Val325Ile)	single nucleotide variant	Uncertain significance	rs201437745	GRCh38	Chromosome 13, 77900633: 77900633
13	EDNRB	NM_000115.4(EDNRB): c.550T> C (p.Ser184Pro)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 13, 78477676: 78477676
14	EDNRB	NM_000115.4(EDNRB): c.550T> C (p.Ser184Pro)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 13, 77903541: 77903541
15	EDNRB	NM_000115.4(EDNRB): c.521del (p.Cys174Leufs)	deletion	Pathogenic		GRCh37	Chromosome 13, 78477705: 78477705
16	EDNRB	NM_000115.4(EDNRB): c.521del (p.Cys174Leufs)	deletion	Pathogenic		GRCh38	Chromosome 13, 77903570: 77903570
17	EDNRB	NM_001201397.1(EDNRB): c.1061C> T (p.Ala354Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 13, 77903166: 77903166
18	EDNRB	NM_001201397.1(EDNRB): c.1061C> T (p.Ala354Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 13, 78477301: 78477301
19	EDNRB	NM_001201397.1(EDNRB): c.1048G> T (p.Val350Phe)	single nucleotide variant	not provided	rs77132068	GRCh37	Chromosome 13, 78477314: 78477314
20	EDNRB	NM_001201397.1(EDNRB): c.1048G> T (p.Val350Phe)	single nucleotide variant	not provided	rs77132068	GRCh38	Chromosome 13, 77903179: 77903179

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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 ³⁷	12.05	EDNRB MITF RET
2	Neural Crest Differentiation ¹	11.27	MITF SOX10
3	Endothelins ¹	10.68	EDN3 EDNRB
4	Melanocyte Development and Pigmentation ⁶⁴	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 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell differentiation	GO:0030154	9.81	MITF RET SOX10 SRY
2	positive regulation of transcription, DNA-templated	GO:0045893	9.73	MITF RET SOX10 SRY
3	positive regulation of gene expression	GO:0010628	9.7	MITF RET SOX10
4	negative regulation of apoptotic process	GO:0043066	9.67	EDNRB MITF RET SOX10
5	pigmentation	GO:0043473	9.49	EDNRB MITF
6	peripheral nervous system development	GO:0007422	9.48	EDNRB SOX10
7	response to pain	GO:0048265	9.46	EDNRB RET
8	vasoconstriction	GO:0042310	9.4	EDN3 EDNRB
9	enteric nervous system development	GO:0048484	9.33	EDNRB RET SOX10
10	vein smooth muscle contraction	GO:0014826	9.32	EDN3 EDNRB
11	posterior midgut development	GO:0007497	9.26	EDNRB RET
12	neural crest cell migration	GO:0001755	9.26	EDN3 EDNRB RET SOX10
13	melanocyte differentiation	GO:0030318	8.92	EDN3 EDNRB MITF SOX10

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	8.8	MITF SOX10 SRY

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Sources for Waardenburg Syndrome, Type 4a

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⁵⁵ Novoseek

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Waardenburg Syndrome, Type 4a:

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 (1 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:

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

Sources for Waardenburg Syndrome, Type 4a