WS4A
MCID: WRD020
MIFTS: 42

Waardenburg Syndrome, Type 4a (WS4A) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Waardenburg Syndrome, Type 4a

Aliases & Descriptions for Waardenburg Syndrome, Type 4a:

Name: Waardenburg Syndrome, Type 4a 54 13 69
Waardenburg Syndrome Type Iva 12 24 66
Ws4a 12 24 66
Waardenburg Syndrome with Hirschsprung Disease Type 4a 12 66
Shah-Waardenburg Syndrome 66 52
Waardenburg Syndrome 4a 66 29
Waardenburg Syndrome with Hirschsprung Disease, Type 4a 24
Hirschsprung Disease with Pigmentary Anomaly 66
Waardenburg Syndrome Type 4a 12
Waardenburg-Shah Syndrome 66

Characteristics:

HPO:

32

Classifications:



External Ids:

OMIM 54 277580
Disease Ontology 12 DOID:0110953
MedGen 40 C1848519
MeSH 42 D014849

Summaries for Waardenburg Syndrome, Type 4a

OMIM : 54 Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome... (277580) more...

MalaCards based summary : Waardenburg Syndrome, Type 4a, also known as waardenburg syndrome type iva, is related to pcwh syndrome and waardenburg's syndrome, and has symptoms including ataxia, constipation and abdominal pain. 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 and eye, and related phenotypes are behavior/neurological and embryo

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 : 66 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).

Related Diseases for Waardenburg Syndrome, Type 4a

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 2a
Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d
Waardenburg Syndrome, Type 4a 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 29)
id Related Disease Score Top Affiliating Genes
1 pcwh syndrome 11.9
2 waardenburg's syndrome 11.0
3 waardenburg syndrome type 4 11.0
4 waardenburg syndrome, type 4b 11.0
5 waardenburg syndrome, type 4c 11.0
6 waardenburg syndrome, type 1 10.8
7 deafness, mitochondrial, modifier of 10.1 EDNRB SOX10
8 hirschsprung disease 1 10.0 EDNRB RET
9 epiphyseal dysplasia, multiple, 3 10.0 EDN3 EDNRB
10 sweat gland cancer 10.0 EDNRB RET
11 neutropenia, severe congenital, 5, autosomal recessive 10.0 EDNRB RET
12 uterine ligament clear cell adenocarcinoma 9.9 EDNRB RET
13 charcot-marie-tooth neuropathy, x-linked recessive, 2 9.9 MITF SOX10
14 verrucous papilloma 9.9 MITF SOX10
15 apocrine adenoma 9.9 EDNRB RET SOX10
16 rectum kaposi's sarcoma 9.9 MITF RET
17 shprintzen-goldberg syndrome 9.9 EDN3 EDNRB RET
18 ariboflavinosis 9.8 EDN3 EDNRB RET
19 chronic infections, due to mbl deficiency 9.8 EDN3 EDNRB RET
20 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.7 MITF SOX10
21 waardenburg syndrome, type 3 9.7 EDN3 MITF SOX10
22 aicardi-goutieres syndrome 6 9.7 EDN3 MITF SOX10
23 skin pilomatrix carcinoma 9.7 EDN3 EDNRB RET SOX10
24 spinal meningioma 9.7 EDN3 EDNRB RET SOX10
25 wdha syndrome 9.6 EDN3 EDNRB MITF SOX10
26 cervical adenofibroma 9.5 EDN3 EDNRB MITF SOX10
27 ceroid lipofuscinosis, neuronal, 5 9.4 EDN3 EDNRB MITF RET SOX10
28 myopathy of extraocular muscle 9.3 EDN3 EDNRB MITF RET SOX10
29 tooth agenesis, selective, 5 9.3 EDN3 EDNRB MITF RET SOX10

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



Diseases related to Waardenburg Syndrome, Type 4a

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4a

Symptoms by clinical synopsis from OMIM:

277580

Clinical features from OMIM:

277580

Human phenotypes related to Waardenburg Syndrome, Type 4a:

32 (show all 30)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 constipation 32 HP:0002019
3 abdominal pain 32 HP:0002027
4 nystagmus 32 HP:0000639
5 muscular hypotonia 32 HP:0001252
6 hearing impairment 32 HP:0000365
7 global developmental delay 32 HP:0001263
8 wide nasal bridge 32 HP:0000431
9 sensorineural hearing impairment 32 HP:0000407
10 abnormality of retinal pigmentation 32 HP:0007703
11 abnormality of vision 32 HP:0000504
12 hypopigmented skin patches 32 HP:0001053
13 abnormality of the macula 32 HP:0001103
14 intestinal obstruction 32 HP:0005214
15 prominent nasal bridge 32 HP:0000426
16 underdeveloped nasal alae 32 HP:0000430
17 telecanthus 32 HP:0000506
18 heterochromia iridis 32 HP:0001100
19 premature graying of hair 32 HP:0002216
20 aganglionic megacolon 32 HP:0002251
21 blue irides 32 HP:0000635
22 white forelock 32 HP:0002211
23 synophrys 32 HP:0000664
24 white eyebrow 32 HP:0002226
25 white eyelashes 32 HP:0002227
26 polyneuropathy 32 HP:0001271
27 leukodystrophy 32 HP:0002415
28 spastic paraparesis 32 HP:0002313
29 autonomic dysregulation 32 HP:0002271
30 olfactory lobe agenesis 32 HP:0001341

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 EDN3 EDNRB MITF RET SOX10
2 embryo MP:0005380 9.8 EDN3 EDNRB MITF RET SOX10
3 digestive/alimentary MP:0005381 9.73 EDN3 EDNRB RET SOX10
4 endocrine/exocrine gland MP:0005379 9.67 EDNRB MITF RET SOX10
5 integument MP:0010771 9.62 EDN3 EDNRB MITF SOX10
6 limbs/digits/tail MP:0005371 9.56 EDNRB MITF RET SOX10
7 mortality/aging MP:0010768 9.55 EDN3 EDNRB MITF RET SOX10
8 nervous system MP:0003631 9.35 EDN3 EDNRB MITF RET SOX10
9 pigmentation MP:0001186 8.92 SOX10 EDN3 EDNRB MITF

Drugs & Therapeutics for Waardenburg Syndrome, Type 4a

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

Genetic Tests for Waardenburg Syndrome, Type 4a

Genetic tests related to Waardenburg Syndrome, Type 4a:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4a 29
2 Waardenburg Syndrome Type Iva 24 EDNRB

Anatomical Context for Waardenburg Syndrome, Type 4a

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

39
Skin, Eye

Publications for Waardenburg Syndrome, Type 4a

Variations for Waardenburg Syndrome, Type 4a

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 EDNRB NM_000115.4(EDNRB): c.828G> T (p.Trp276Cys) single nucleotide variant Pathogenic,risk factor rs104894387 GRCh37 Chromosome 13, 78475316: 78475316
2 EDNRB NM_000115.4(EDNRB): c.548C> G (p.Ala183Gly) single nucleotide variant Pathogenic rs104894388 GRCh37 Chromosome 13, 78477678: 78477678
3 EDNRB NM_000115.4(EDNRB): c.757C> T (p.Arg253Ter) single nucleotide variant Pathogenic rs104894390 GRCh37 Chromosome 13, 78477335: 78477335

Expression for Waardenburg Syndrome, Type 4a

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

Pathways for Waardenburg Syndrome, Type 4a

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

id Super pathways Score Top Affiliating Genes
1 11.73 EDNRB MITF RET
2 11.27 MITF SOX10
3 10.88 EDN3 EDNRB
4 10.24 MITF SOX10

GO Terms for Waardenburg Syndrome, Type 4a

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.65 MITF RET SOX10
2 neuron differentiation GO:0030182 9.49 EDN3 RET
3 pigmentation GO:0043473 9.46 EDNRB MITF
4 peripheral nervous system development GO:0007422 9.43 EDNRB SOX10
5 response to pain GO:0048265 9.4 EDNRB RET
6 vasoconstriction GO:0042310 9.37 EDN3 EDNRB
7 enteric nervous system development GO:0048484 9.33 EDNRB RET SOX10
8 vein smooth muscle contraction GO:0014826 9.32 EDN3 EDNRB
9 posterior midgut development GO:0007497 9.26 EDNRB RET
10 neural crest cell migration GO:0001755 9.26 EDN3 EDNRB RET SOX10
11 melanocyte differentiation GO:0030318 8.92 EDN3 EDNRB MITF SOX10

Sources for Waardenburg Syndrome, Type 4a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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