MCID: WRD025
MIFTS: 43

Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Neuronal diseases categories

Aliases & Classifications for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

Name: Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 49 11
Waardenburg Syndrome Type 2 45 22 51 24 65
Ws Type 2 45 22
Ws2 22 51
Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation 67
Waardenburg Syndrome Type 2e with or Without Neurologic Involvement 67
Kallmann Syndrome and Deafness with or Without Hypopigmentation 67
 
Ws2e with or Without Neurologic Involvement 67
Waardenburg Syndrome, Type Iia 65
Waardenburg Syndrome Type Iie 67
Waardenburg Syndrome 2e 67
Ws 2 45
Ws2e 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
waardenburg syndrome type 2:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 611584
Orphanet51 895
ICD10 via Orphanet28 E70.3
MESH via Orphanet37 C536463
UMLS via Orphanet66 C2700265
MeSH36 D014849

Summaries for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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OMIM:49 Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (611584) more...

MalaCards based summary: Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement, also known as waardenburg syndrome type 2, is related to waardenburg syndrome, type 1 and waardenburg syndrome, type 2a, and has symptoms including sensorineural hearing impairment, heterochromia iridis and premature graying of hair. An important gene associated with Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement is SOX10 (SRY (Sex Determining Region Y)-Box 10), and among its related pathways are Melanocyte Development and Pigmentation and Kit Receptor Signaling Pathway. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are pigmentation and craniofacial.

NIH Rare Diseases:45 Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. about 50 percent of those with waardenburg syndrome type 2 have a hearing impairment or are deaf.  type 2 is one the most common forms of waardenburg syndrome, along with type 1. waardenburg syndrome type 2 may be caused by mutations in the mitf and snai2 genes. this condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait. last updated: 12/9/2011

UniProtKB/Swiss-Prot:67 Waardenburg syndrome 2E: An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome.

Related Diseases for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:



Diseases related to waardenburg syndrome, type 2e, with or without neurologic involvement

Symptoms for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Symptoms by clinical synopsis from OMIM:

611584

Clinical features from OMIM:

611584

Symptoms:

 51 (show all 13)
  • heterochromia/mixed colouring of iris
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • premature greying of hair
  • decreased hair pigmentation/hypopigmentation of hair
  • autosomal dominant inheritance
  • irregular/patchy skin hypopigmentation
  • white forelock/piebaldism
  • ptosis
  • telecanthus/canthal dystopy
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • renal/kidney anomalies

HPO human phenotypes related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

(show all 36)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 heterochromia iridis hallmark (90%) HP:0001100
3 premature graying of hair hallmark (90%) HP:0002216
4 hypopigmented skin patches typical (50%) HP:0001053
5 white forelock typical (50%) HP:0002211
6 abnormality of the kidney occasional (7.5%) HP:0000077
7 telecanthus occasional (7.5%) HP:0000506
8 ptosis occasional (7.5%) HP:0000508
9 aganglionic megacolon occasional (7.5%) HP:0002251
10 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
11 anosmia rare (5%) HP:0000458
12 ocular albinism rare (5%) HP:0001107
13 autosomal dominant inheritance HP:0000006
14 sensorineural hearing impairment HP:0000407
15 blue irides HP:0000635
16 nystagmus HP:0000639
17 pectus excavatum HP:0000767
18 cafe-au-lait spot HP:0000957
19 hypopigmented skin patches HP:0001053
20 heterochromia iridis HP:0001100
21 intellectual disability HP:0001249
22 global developmental delay HP:0001263
23 hypertonia HP:0001276
24 heterogeneous HP:0001425
25 white forelock HP:0002211
26 premature graying of hair HP:0002216
27 white eyebrow HP:0002226
28 white eyelashes HP:0002227
29 phenotypic variability HP:0003812
30 cerebral hypomyelination HP:0006808
31 hypoplasia of the iris HP:0007676
32 hypopigmentation of the fundus HP:0007894
33 muscular hypotonia of the trunk HP:0008936
34 dilated vestibule of the inner ear HP:0011379
35 aplasia of the semicircular canal HP:0011381
36 hypoplasia of the semicircular canal HP:0011382

Drugs & Therapeutics for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement

Genetic Tests for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Genetic tests related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Ii22 SOX10
2 Waardenburg Syndrome Type Iie22 SOX10
3 Waardenburg Syndrome Type 2e24
4 Waardenburg Syndrome Type 224

Anatomical Context for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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MalaCards organs/tissues related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

33
Skin, Eye, Kidney

Animal Models for Waardenburg Syndrome, Type 2e, with or Without Neurologic... or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8MITF, SNAI2, SOX10
2MP:00053828.6MITF, SNAI2, SOX10
3MP:00053798.5MITF, SNAI2, SOX10
4MP:00107718.2MITF, SNAI2, SOX10

Publications for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Variations for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

67
id Symbol AA change Variation ID SNP ID
1SOX10p.Ser135ThrVAR_021386
2SOX10p.Met112IleVAR_066748
3SOX10p.Arg161HisVAR_066753

Clinvar genetic disease variations for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MITFMITF, IVS1DS, G-A, +1single nucleotide variantPathogenic
2MITFMITF, IVS4AS, A-C, -2single nucleotide variantPathogenic
3MITFNM_198159.2(MITF): c.1051T> C (p.Ser351Pro)single nucleotide variantPathogenicrs104893744GRCh37Chr 3, 70008461: 70008461
4MITFMITF, 1-BP DELdeletionPathogenic
5MITFNM_198159.2(MITF): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs104893746GRCh37Chr 3, 70005611: 70005611
6MITFNM_198159.2(MITF): c.1195T> C (p.Ser399Pro)single nucleotide variantPathogenicrs104893747GRCh37Chr 3, 70014031: 70014031
7SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenicGRCh37Chr 8, 49831366: 49833824

Expression for genes affiliated with Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement.

Pathways for genes affiliated with Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Pathways related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3MITF, SOX10
2
Show member pathways
9.1MITF, SNAI2
39.1MITF, SNAI2
48.5MITF, SNAI2, SOX10

GO Terms for genes affiliated with Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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Biological processes related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanocyte differentiationGO:00303189.6MITF, SOX10
2pigmentationGO:00434739.4MITF, SNAI2
3negative regulation of canonical Wnt signaling pathwayGO:00900909.0SNAI2, SOX10
4negative regulation of apoptotic processGO:00430668.2MITF, SNAI2, SOX10

Molecular functions related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.5MITF, SOX10
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037058.9MITF, SNAI2, SOX10
3chromatin bindingGO:00036828.5MITF, SNAI2, SOX10

Sources for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet