MCID: WRD024
MIFTS: 28

Waardenburg Syndrome, Type 4c malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 4c

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Aliases & Descriptions for Waardenburg Syndrome, Type 4c:

Name: Waardenburg Syndrome, Type 4c 50 12 66
Waardenburg Syndrome Type Ivc 23 68
Waardenburg Syndrome 4c 68 25
Ws4c 23 68
Waardenburg Syndrome with Hirschsprung Disease, Type 4c 23
 
Waardenburg Syndrome with Hirschsprung Disease Type 4c 68
Hirschsprung Disease with Pigmentary Anomaly 68
Shah-Waardenburg Syndrome 68
Waardenburg-Shah Syndrome 68

Characteristics:

HPO:

62
waardenburg syndrome, type 4c:
Inheritance: autosomal dominant inheritance, heterogeneous


Classifications:



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OMIM50 613266
MedGen35 C2750452
MeSH37 D014849

Summaries for Waardenburg Syndrome, Type 4c

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OMIM:50 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 4a, and has symptoms including anosmia, cryptorchidism and hypogonadism. An important gene associated with Waardenburg Syndrome, Type 4c is SOX10 (SRY-Box 10). Affiliated tissues include eye and skin.

UniProtKB/Swiss-Prot:68 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

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



Diseases related to waardenburg syndrome, type 4c

Symptoms for Waardenburg Syndrome, Type 4c

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Symptoms by clinical synopsis from OMIM:

613266

Clinical features from OMIM:

613266

HPO human phenotypes related to Waardenburg Syndrome, Type 4c:

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

Drugs & Therapeutics for Waardenburg Syndrome, Type 4c

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Interventional clinical trials:

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

Genetic Tests for Waardenburg Syndrome, Type 4c

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Genetic tests related to Waardenburg Syndrome, Type 4c:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4c25
2 Waardenburg Syndrome Type Ivc23 SOX10

Anatomical Context for Waardenburg Syndrome, Type 4c

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

34
Eye, Skin

Animal Models for Waardenburg Syndrome, Type 4c or affiliated genes

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Publications for Waardenburg Syndrome, Type 4c

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Variations for Waardenburg Syndrome, Type 4c

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

68
id Symbol AA change Variation ID SNP ID
1SOX10p.Arg106TrpVAR_066747
2SOX10p.Leu145ProVAR_066750
3SOX10p.Ala157ValVAR_066752rs121909117

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_006941.3(SOX10): c.271_275delCCCGT (p.Pro91Alafs)deletionLikely pathogenicrs483353057GRCh37Chr 22, 38379517: 38379521
2NM_006941.3(SOX10): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs74315514GRCh37Chr 22, 38374006: 38374006
3NM_006941.3(SOX10): c.249C> G (p.Tyr83Ter)single nucleotide variantPathogenicrs73415876GRCh37Chr 22, 38379543: 38379543
4NM_006941.3(SOX10): c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)insertionPathogenicrs397515366GRCh37Chr 22, 38374088: 38374089
5NM_006941.3(SOX10): c.1077_1078delGA (p.Glu359Aspfs)deletionPathogenicrs397515367GRCh37Chr 22, 38369825: 38369826
6NM_006941.3(SOX10): c.621C> G (p.Tyr207Ter)single nucleotide variantPathogenicrs281797260GRCh37Chr 22, 38373950: 38373950
7NM_006941.3(SOX10): c.1129C> T (p.Gln377Ter)single nucleotide variantPathogenicrs74315520GRCh37Chr 22, 38369774: 38369774
8NM_006941.3(SOX10): c.698-740_1085del1128insCCTindelPathogenicGRCh37Chr 22, 38369818: 38370945
9NM_006941.3(SOX10): c.470C> T (p.Ala157Val)single nucleotide variantPathogenicrs121909117GRCh37Chr 22, 38374101: 38374101

Expression for genes affiliated with Waardenburg Syndrome, Type 4c

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 4c

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GO Terms for genes affiliated with Waardenburg Syndrome, Type 4c

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Sources for Waardenburg Syndrome, Type 4c

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet