MCID: WRD024
MIFTS: 29

Waardenburg Syndrome, Type 4c

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

Aliases & Classifications for Waardenburg Syndrome, Type 4c

MalaCards integrated aliases for Waardenburg Syndrome, Type 4c:

Name: Waardenburg Syndrome, Type 4c 54 13 69
Waardenburg Syndrome Type Ivc 12 24 71
Ws4c 12 24 71
Waardenburg Syndrome with Hirschsprung Disease Type 4c 12 71
Waardenburg Syndrome Type 4c 12 29
Waardenburg Syndrome with Hirschsprung Disease, Type 4c 24
Hirschsprung Disease with Pigmentary Anomaly 71
Waardenburg Syndrome, Type 4a 69
Shah-Waardenburg Syndrome 71
Waardenburg-Shah Syndrome 71
Waardenburg Syndrome 4c 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
incomplete penetrance of some features
variable severity, intrafamilial
patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, )


HPO:

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


Classifications:



Summaries for Waardenburg Syndrome, Type 4c

OMIM : 54
Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820). (613266)

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 cryptorchidism, white forelock and hypogonadism. An important gene associated with Waardenburg Syndrome, Type 4c is SOX10 (SRY-Box 10). Affiliated tissues include eye, skin and bone.

UniProtKB/Swiss-Prot : 71 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).

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.

Related Diseases for Waardenburg Syndrome, Type 4c

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 4c via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pcwh syndrome 11.9
2 waardenburg syndrome, type 4a 11.1
3 waardenburg syndrome, type 4b 11.1
4 waardenburg syndrome type 4 11.1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4c

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- External Genitalia Male:
cryptorchidism
hypogonadism

Skin Nails & Hair- Hair:
white forelock
white eyelashes
white eyebrows
premature graying

Head And Neck- Eyes:
bright blue irides
heterochromia iridis
lacrimal gland hypoplasia (in some patients)

Head And Neck- Nose:
anosmia (in some patients)

Skeletal- Skull:
bilateral temporal bone abnormalities

Head And Neck- Ears:
deafness, sensorineural
hypoplasia or agenesis of the semicircular canals
enlarged vestibule
small cochlea
abnormally shaped cochlea

Abdomen- Gastroin testinal:
hirschsprung disease
decreased myenteric and submucosal ganglia in the bowel

Skin Nails & Hair- Skin:
hypopigmented skin patches

Head And Neck- Mouth:
parotid gland hypoplasia (in some patients)

Neurologic- Central Nervous System:
olfactory bulb agenesis (in some patients)


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 cryptorchidism 32 HP:0000028
2 white forelock 32 HP:0002211
3 hypogonadism 32 HP:0000135
4 anosmia 32 occasional (7.5%) HP:0000458
5 sensorineural hearing impairment 32 HP:0000407
6 premature graying of hair 32 HP:0002216
7 hypopigmented skin patches 32 HP:0001053
8 heterochromia iridis 32 HP:0001100
9 white eyelashes 32 HP:0002227
10 blue irides 32 HP:0000635
11 aganglionic megacolon 32 HP:0002251
12 white eyebrow 32 HP:0002226
13 lacrimal gland hypoplasia 32 occasional (7.5%) HP:0007732

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, Bone, Olfactory Bulb

Publications for Waardenburg Syndrome, Type 4c

Variations for Waardenburg Syndrome, Type 4c

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

71
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 GRCh37 Chromosome 22, 38374006: 38374006
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

Sources for Waardenburg Syndrome, Type 4c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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37 KEGG
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51 NINDS
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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