MCID: WRD024
MIFTS: 32

Waardenburg Syndrome, Type 4c

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

Aliases & Classifications for Waardenburg Syndrome, Type 4c

MalaCards integrated aliases for Waardenburg Syndrome, Type 4c:

Name: Waardenburg Syndrome, Type 4c 53 13 69
Ws4c 53 12 71
Waardenburg Syndrome with Hirschsprung Disease Type 4c 12 71
Waardenburg Syndrome Type Ivc 12 71
Waardenburg Syndrome Type 4c 12 28
Waardenburg Syndrome with Hirschsprung Disease, Type 4c 53
Hirschsprung Disease with Pigmentary Anomaly 71
Waardenburg Syndrome, Type Ivc 53
Waardenburg Syndrome, Type 4a 69
Waardenburg-Shah Syndrome 71
Shah-Waardenburg Syndrome 71
Waardenburg Syndrome 4c 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
waardenburg syndrome, type 4c:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Waardenburg Syndrome, Type 4c

OMIM : 53 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 ws4c, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome, type 4a, 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, skin and bone.

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 : 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).

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 via clinical synopsis from OMIM:

53
Genitourinary External Genitalia Male:
cryptorchidism
hypogonadism

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

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

Head And Neck Nose:
anosmia (in some patients)

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

Skin Nails Hair Skin:
hypopigmented skin patches

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

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

Skeletal Skull:
bilateral temporal bone abnormalities

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


Clinical features from OMIM:

613266

Human phenotypes related to Waardenburg Syndrome, Type 4c:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 anosmia 31 occasional (7.5%) HP:0000458
2 sensorineural hearing impairment 31 HP:0000407
3 cryptorchidism 31 HP:0000028
4 hypopigmented skin patches 31 HP:0001053
5 hypogonadism 31 HP:0000135
6 heterochromia iridis 31 HP:0001100
7 premature graying of hair 31 HP:0002216
8 aganglionic megacolon 31 HP:0002251
9 blue irides 31 HP:0000635
10 white forelock 31 HP:0002211
11 white eyebrow 31 HP:0002226
12 white eyelashes 31 HP:0002227
13 lacrimal gland hypoplasia 31 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:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4c 28 SOX10

Anatomical Context for Waardenburg Syndrome, Type 4c

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

38
Eye, Skin, Bone, Olfactory Bulb

Publications for Waardenburg Syndrome, Type 4c

Articles related to Waardenburg Syndrome, Type 4c:

# Title Authors Year
1
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. ( 16504559 )
2006
2
A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. ( 11565556 )
2001
3
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah- Waardenburg syndrome). ( 8630503 )
1996
4
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). ( 8630502 )
1996

Variations for Waardenburg Syndrome, Type 4c

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX10 NM_006941.3(SOX10): c.271_275delCCCGT (p.Pro91Alafs) deletion Likely pathogenic rs483353057 GRCh37 Chromosome 22, 38379517: 38379521
2 SOX10 NM_006941.3(SOX10): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs74315514 GRCh37 Chromosome 22, 38374006: 38374006
3 SOX10 NM_006941.3(SOX10): c.249C> G (p.Tyr83Ter) single nucleotide variant Pathogenic rs73415876 GRCh37 Chromosome 22, 38379543: 38379543
4 SOX10 NM_006941.3(SOX10): c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) insertion Pathogenic rs397515366 GRCh37 Chromosome 22, 38374088: 38374089
5 SOX10 NM_006941.3(SOX10): c.1077_1078delGA (p.Glu359Aspfs) deletion Pathogenic rs397515367 GRCh37 Chromosome 22, 38369825: 38369826
6 SOX10 NM_006941.3(SOX10): c.621C> G (p.Tyr207Ter) single nucleotide variant Pathogenic rs281797260 GRCh37 Chromosome 22, 38373950: 38373950
7 SOX10 NM_006941.3(SOX10): c.1129C> T (p.Gln377Ter) single nucleotide variant Pathogenic rs74315520 GRCh37 Chromosome 22, 38369774: 38369774
8 SOX10 NM_006941.3(SOX10): c.698-740_1085del1128insCCT indel Pathogenic GRCh37 Chromosome 22, 38369818: 38370945
9 SOX10 NM_006941.3(SOX10): c.470C> T (p.Ala157Val) single nucleotide variant Pathogenic rs121909117 GRCh37 Chromosome 22, 38374101: 38374101

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....