WS4C
MCID: WRD024
MIFTS: 32

Waardenburg Syndrome, Type 4c (WS4C) malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 4c

Aliases & Descriptions for Waardenburg Syndrome, Type 4c:

Name: Waardenburg Syndrome, Type 4c 54 13 69
Waardenburg Syndrome Type Ivc 12 24 66
Ws4c 12 24 66
Waardenburg Syndrome with Hirschsprung Disease Type 4c 12 66
Waardenburg Syndrome 4c 66 29
Waardenburg Syndrome with Hirschsprung Disease, Type 4c 24
Hirschsprung Disease with Pigmentary Anomaly 66
Waardenburg Syndrome, Type 4a 69
Waardenburg Syndrome Type 4c 12
Shah-Waardenburg Syndrome 66
Waardenburg-Shah Syndrome 66

Characteristics:

HPO:

32
waardenburg syndrome, type 4c:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 613266
Disease Ontology 12 DOID:0110955
MedGen 40 C2750452
MeSH 42 D014849

Summaries for Waardenburg Syndrome, Type 4c

OMIM : 54 Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye,... (613266) more...

MalaCards based summary : Waardenburg Syndrome, Type 4c, also known as waardenburg syndrome type ivc, is related to pcwh syndrome and waardenburg syndrome, type 4b, and has symptoms including anosmia, sensorineural hearing impairment and cryptorchidism. An important gene associated with Waardenburg Syndrome, Type 4c is SOX10 (SRY-Box 10). Affiliated tissues include eye and skin, and related phenotype is pigmentation.

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 mutation in the SOX10 gene on chromosome 22q13.

UniProtKB/Swiss-Prot : 66 Waardenburg syndrome 4C: 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 4c

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



Diseases related to Waardenburg Syndrome, Type 4c

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4c

Symptoms by clinical synopsis from OMIM:

613266

Clinical features from OMIM:

613266

Human phenotypes related to Waardenburg Syndrome, Type 4c:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 anosmia 32 HP:0000458
2 sensorineural hearing impairment 32 HP:0000407
3 cryptorchidism 32 HP:0000028
4 hypopigmented skin patches 32 HP:0001053
5 hypogonadism 32 HP:0000135
6 heterochromia iridis 32 HP:0001100
7 premature graying of hair 32 HP:0002216
8 aganglionic megacolon 32 HP:0002251
9 blue irides 32 HP:0000635
10 white forelock 32 HP:0002211
11 white eyebrow 32 HP:0002226
12 white eyelashes 32 HP:0002227
13 lacrimal gland hypoplasia 32 HP:0007732

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 EDNRB SOX10

Drugs & Therapeutics for Waardenburg Syndrome, Type 4c

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

Genetic Tests for Waardenburg Syndrome, Type 4c

Genetic tests related to Waardenburg Syndrome, Type 4c:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4c 29
2 Waardenburg Syndrome Type Ivc 24 SOX10

Anatomical Context for Waardenburg Syndrome, Type 4c

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

39
Eye, Skin

Publications for Waardenburg Syndrome, Type 4c

Variations for Waardenburg Syndrome, Type 4c

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

66
id Symbol AA change Variation ID SNP ID
1 SOX10 p.Arg106Trp VAR_066747
2 SOX10 p.Leu145Pro VAR_066750
3 SOX10 p.Ala157Val VAR_066752 rs121909117

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SOX10 NM_006941.3(SOX10): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs74315514 GRCh38 Chromosome 22, 37977999: 37977999
2 SOX10 NM_006941.3(SOX10): c.249C> G (p.Tyr83Ter) single nucleotide variant Pathogenic rs73415876 GRCh37 Chromosome 22, 38379543: 38379543
3 SOX10 NM_006941.3(SOX10): c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) insertion Pathogenic rs397515366 GRCh37 Chromosome 22, 38374088: 38374089
4 SOX10 NM_006941.3(SOX10): c.1077_1078delGA (p.Glu359Aspfs) deletion Pathogenic rs397515367 GRCh37 Chromosome 22, 38369825: 38369826
5 SOX10 NM_006941.3(SOX10): c.621C> G (p.Tyr207Ter) single nucleotide variant Pathogenic rs281797260 GRCh37 Chromosome 22, 38373950: 38373950
6 SOX10 NM_006941.3(SOX10): c.1129C> T (p.Gln377Ter) single nucleotide variant Pathogenic rs74315520 GRCh37 Chromosome 22, 38369774: 38369774
7 SOX10 NM_006941.3(SOX10): c.698-740_1085del1128insCCT indel Pathogenic GRCh37 Chromosome 22, 38369818: 38370945
8 SOX10 NM_006941.3(SOX10): c.470C> T (p.Ala157Val) single nucleotide variant Pathogenic rs121909117 GRCh37 Chromosome 22, 38374101: 38374101
9 SOX10 NM_006941.3(SOX10): c.271_275delCCCGT (p.Pro91Alafs) deletion Likely pathogenic rs483353057 GRCh37 Chromosome 22, 38379517: 38379521

Expression for Waardenburg Syndrome, Type 4c

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

Pathways for Waardenburg Syndrome, Type 4c

GO Terms for Waardenburg Syndrome, Type 4c

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.32 EDNRB SOX10
2 neural crest cell migration GO:0001755 9.26 EDNRB SOX10
3 peripheral nervous system development GO:0007422 9.16 EDNRB SOX10
4 melanocyte differentiation GO:0030318 8.96 EDNRB SOX10
5 enteric nervous system development GO:0048484 8.62 EDNRB SOX10

Sources for Waardenburg Syndrome, Type 4c

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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