MCID: WRD024
MIFTS: 32

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 52 12 68
Waardenburg Syndrome Type Ivc 24 70
Waardenburg Syndrome 4c 70 27
Ws4c 24 70
Waardenburg Syndrome with Hirschsprung Disease, Type 4c 24
 
Waardenburg Syndrome with Hirschsprung Disease Type 4c 70
Hirschsprung Disease with Pigmentary Anomaly 70
Waardenburg Syndrome, Type 4a 68
Shah-Waardenburg Syndrome 70
Waardenburg-Shah Syndrome 70

Characteristics:

HPO:

64
waardenburg syndrome, type 4c:
Inheritance: autosomal dominant inheritance, heterogeneous

Classifications:



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OMIM52 613266
MedGen37 C2750452
MeSH39 D014849

Summaries for Waardenburg Syndrome, Type 4c

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OMIM:52 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, and related mouse phenotypes are neoplasm and pigmentation.

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Waardenburg Syndrome, Type 4c

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Symptoms by clinical synopsis from OMIM:

613266

Clinical features from OMIM:

613266

Human phenotypes related to Waardenburg Syndrome, Type 4c:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 anosmia64 rare (5%) HP:0000458
2 cryptorchidism64 HP:0000028
3 hypogonadism64 HP:0000135
4 sensorineural hearing impairment64 HP:0000407
5 blue irides64 HP:0000635
6 hypopigmented skin patches64 HP:0001053
7 heterochromia iridis64 HP:0001100
8 white forelock64 HP:0002211
9 premature graying of hair64 HP:0002216
10 white eyebrow64 HP:0002226
11 white eyelashes64 HP:0002227
12 aganglionic megacolon64 HP:0002251

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 4c according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.8EDNRB, SOX10
2MP:00011869.1EDNRB, SOX10

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 4c27
2 Waardenburg Syndrome Type Ivc24 SOX10

Anatomical Context for Waardenburg Syndrome, Type 4c

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

36
Eye, Skin

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:

70
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
1SOX10NM_006941.3(SOX10): c.271_275delCCCGT (p.Pro91Alafs)deletionLikely pathogenicrs483353057GRCh37Chr 22, 38379517: 38379521
2EDNRBNM_000115.4(EDNRB): c.828G> T (p.Trp276Cys)SNVPathogenic, risk factorrs104894387GRCh37Chr 13, 78475316: 78475316
3SOX10NM_006941.3(SOX10): c.565G> T (p.Glu189Ter)SNVPathogenicrs74315514GRCh37Chr 22, 38374006: 38374006
4SOX10NM_006941.3(SOX10): c.249C> G (p.Tyr83Ter)SNVPathogenicrs73415876GRCh37Chr 22, 38379543: 38379543
5SOX10NM_006941.3(SOX10): c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)insertionPathogenicrs397515366GRCh37Chr 22, 38374088: 38374089
6SOX10NM_006941.3(SOX10): c.1077_1078delGA (p.Glu359Aspfs)deletionPathogenicrs397515367GRCh37Chr 22, 38369825: 38369826
7SOX10NM_006941.3(SOX10): c.621C> G (p.Tyr207Ter)SNVPathogenicrs281797260GRCh37Chr 22, 38373950: 38373950
8SOX10NM_006941.3(SOX10): c.1129C> T (p.Gln377Ter)SNVPathogenicrs74315520GRCh37Chr 22, 38369774: 38369774
9SOX10NM_006941.3(SOX10): c.698-740_1085del1128insCCTindelPathogenicGRCh37Chr 22, 38369818: 38370945
10SOX10NM_006941.3(SOX10): c.470C> T (p.Ala157Val)SNVPathogenicrs121909117GRCh37Chr 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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Biological processes related to Waardenburg Syndrome, Type 4c according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1enteric nervous system developmentGO:00484849.8EDNRB, SOX10
2melanocyte differentiationGO:00303189.8EDNRB, SOX10
3negative regulation of apoptotic processGO:00430669.6EDNRB, SOX10
4neural crest cell migrationGO:00017559.5EDNRB, SOX10
5peripheral nervous system developmentGO:00074229.1EDNRB, SOX10

Sources for Waardenburg Syndrome, Type 4c

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet