MCID: WRD032
MIFTS: 35

Waardenburg Syndrome, Type 2a malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 2a

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Aliases & Descriptions for Waardenburg Syndrome, Type 2a:

Name: Waardenburg Syndrome, Type 2a 50 12
Ws2a 46 23 68
Waardenburg Syndrome 2a 68 25
 
Waardenburg Syndrome, Type Iia 66
Waardenburg Syndrome Type Iia 23
Waardenburg Syndrome Type 2a 46

Characteristics:

HPO:

62
waardenburg syndrome, type 2a:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 193510
MedGen35 C1860339
MeSH37 D014849

Summaries for Waardenburg Syndrome, Type 2a

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OMIM:50 Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary... (193510) more...

MalaCards based summary: Waardenburg Syndrome, Type 2a, also known as ws2a, is related to waardenburg syndrome, type 2b and waardenburg syndrome, type 1, and has symptoms including underdeveloped nasal alae, wide nasal bridge and synophrys. An important gene associated with Waardenburg Syndrome, Type 2a is MITF (Melanogenesis Associated Transcription Factor). Affiliated tissues include skin and eye, and related mouse phenotypes are craniofacial and pigmentation.

UniProtKB/Swiss-Prot:68 Waardenburg syndrome 2A: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.

Related Diseases for Waardenburg Syndrome, Type 2a

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Graphical network of diseases related to Waardenburg Syndrome, Type 2a:



Diseases related to waardenburg syndrome, type 2a

Symptoms for Waardenburg Syndrome, Type 2a

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Symptoms by clinical synopsis from OMIM:

193510

Clinical features from OMIM:

193510

HPO human phenotypes related to Waardenburg Syndrome, Type 2a:

(show all 12)
id Description Frequency HPO Source Accession
1 underdeveloped nasal alae HP:0000430
2 wide nasal bridge HP:0000431
3 synophrys HP:0000664
4 albinism HP:0001022
5 heterochromia iridis HP:0001100
6 white forelock HP:0002211
7 premature graying of hair HP:0002216
8 white eyebrow HP:0002226
9 white eyelashes HP:0002227
10 partial albinism HP:0007443
11 hypoplastic iris stroma HP:0007990
12 congenital sensorineural hearing impairment HP:0008527

Drugs & Therapeutics for Waardenburg Syndrome, Type 2a

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Waardenburg Syndrome, Type 2a

Genetic Tests for Waardenburg Syndrome, Type 2a

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Genetic tests related to Waardenburg Syndrome, Type 2a:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2a25
2 Waardenburg Syndrome Type Iia23 MITF

Anatomical Context for Waardenburg Syndrome, Type 2a

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MalaCards organs/tissues related to Waardenburg Syndrome, Type 2a:

34
Skin, Eye

Animal Models for Waardenburg Syndrome, Type 2a or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 2a:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1MITF, TFE3
2MP:00011868.8MITF, TFE3

Publications for Waardenburg Syndrome, Type 2a

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Articles related to Waardenburg Syndrome, Type 2a:

idTitleAuthorsYear
1
Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. (9170159)
1997
2
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. (8659547)
1996

Variations for Waardenburg Syndrome, Type 2a

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UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 2a:

68
id Symbol AA change Variation ID SNP ID
1MITFp.Ser357ProVAR_010300rs104893744
2MITFp.Asn385AspVAR_010301
3MITFp.Ser405ProVAR_010302rs104893747

Clinvar genetic disease variations for Waardenburg Syndrome, Type 2a:

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
7MITFNM_198159.2(MITF): c.1190delG (p.Gly397Aspfs)deletionPathogenicrs878853234GRCh38Chr 3, 69964875: 69964875

Expression for genes affiliated with Waardenburg Syndrome, Type 2a

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Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2a.

Pathways for genes affiliated with Waardenburg Syndrome, Type 2a

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GO Terms for genes affiliated with Waardenburg Syndrome, Type 2a

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Biological processes related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of osteoclast differentiationGO:00456709.5MITF, TFE3
2transcription from RNA polymerase II promoterGO:00063669.1MITF, TFE3
3positive regulation of transcription from RNA polymerase II promoterGO:00459449.1MITF, TFE3

Molecular functions related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:00469839.2MITF, TFE3
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.1MITF, TFE3
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.8MITF, TFE3

Sources for Waardenburg Syndrome, Type 2a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet