MCID: WRD025
MIFTS: 40

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

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

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OMIM:45 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 2a and waardenburg syndrome, type 2d, 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. The compound dopachrome have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are pigmentation and craniofacial.

NIH Rare Diseases:41 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

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

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement, Aliases & Descriptions:

Name: Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 45 10
Waardenburg Syndrome Type 2 41 20 47 22 60
Ws2 41 47
Waardenburg Syndrome, Type Iia 60
 
Waardenburg Syndrome, Type 2e 45
Ws Type 2 41
Ws 2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
waardenburg syndrome type 2:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 611584
Orphanet47 895
MESH via Orphanet34 C536463
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C2700265

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:

 47 (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 35)
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 ocular albinism rare (5%) HP:0001107
12 autosomal dominant inheritance HP:0000006
13 sensorineural hearing impairment HP:0000407
14 blue irides HP:0000635
15 nystagmus HP:0000639
16 pectus excavatum HP:0000767
17 cafe-au-lait spot HP:0000957
18 hypopigmented skin patches HP:0001053
19 heterochromia iridis HP:0001100
20 intellectual disability HP:0001249
21 global developmental delay HP:0001263
22 hypertonia HP:0001276
23 heterogeneous HP:0001425
24 white forelock HP:0002211
25 premature graying of hair HP:0002216
26 white eyebrow HP:0002226
27 white eyelashes HP:0002227
28 phenotypic variability HP:0003812
29 cerebral hypomyelination HP:0006808
30 hypoplasia of the iris HP:0007676
31 hypopigmentation of the fundus HP:0007894
32 muscular hypotonia of the trunk HP:0008936
33 dilated vestibule of the inner ear HP:0011379
34 aplasia of the semicircular canal HP:0011381
35 hypoplasia of the semicircular canal HP:0011382

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

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Drug clinical trials:

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

Search 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 Ii20 SOX10
2 Waardenburg Syndrome Type Iie20 SOX10
3 Waardenburg Syndrome Type 2e22
4 Waardenburg Syndrome Type 222

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:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7SNAI2, MITF, SOX10
2MP:00053828.6SOX10, MITF, SNAI2
3MP:00053798.6SNAI2, MITF, SOX10
4MP:00107718.5SOX10, MITF, SNAI2
5MP:00053788.5SNAI2, MITF, SOX10
6MP:00053868.4SNAI2, MITF, SOX10
7MP:00036318.2SOX10, MITF, SNAI2

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:

62
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:

6
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_?)deldeletionPathogenic

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
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.1SNAI2, MITF
39.1SNAI2, MITF
48.5SNAI2, MITF, SOX10

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

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Sources:
43Novoseek
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Compounds related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1dopachrome439.3MITF, 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
1negative regulation of canonical Wnt signaling pathwayGO:00900909.0SNAI2, SOX10
2melanocyte differentiationGO:00303189.0MITF, SOX10

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036828.5SNAI2, MITF, SOX10
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037058.2SNAI2, MITF, SOX10

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet