MCID: WRD032
MIFTS: 33

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 52 12
Ws2a 48 24 70
Waardenburg Syndrome 2a 70 27
 
Waardenburg Syndrome, Type Iia 68
Waardenburg Syndrome Type Iia 24
Waardenburg Syndrome Type 2a 48

Characteristics:

HPO:

64
waardenburg syndrome, type 2a:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 193510
MedGen37 C1860339
MeSH39 D014849

Summaries for Waardenburg Syndrome, Type 2a

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OMIM:52 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:70 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 & Phenotypes for Waardenburg Syndrome, Type 2a

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Symptoms by clinical synopsis from OMIM:

193510

Clinical features from OMIM:

193510

Human phenotypes related to Waardenburg Syndrome, Type 2a:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 underdeveloped nasal alae64 HP:0000430
2 wide nasal bridge64 HP:0000431
3 synophrys64 HP:0000664
4 albinism64 HP:0001022
5 heterochromia iridis64 HP:0001100
6 white forelock64 HP:0002211
7 premature graying of hair64 HP:0002216
8 white eyebrow64 HP:0002226
9 white eyelashes64 HP:0002227
10 partial albinism64 HP:0007443
11 hypoplastic iris stroma64 HP:0007990
12 congenital sensorineural hearing impairment64 HP:0008527

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.8MITF, TFE3
2MP:00011869.1MITF, TFE3

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 2a27
2 Waardenburg Syndrome Type Iia24 MITF

Anatomical Context for Waardenburg Syndrome, Type 2a

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

36
Skin, Eye

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:

70
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, +1SNVPathogenicChr na, -1: -1
2MITFMITF, IVS4AS, A-C, -2SNVPathogenicChr na, -1: -1
3MITFNM_198159.2(MITF): c.1051T> C (p.Ser351Pro)SNVPathogenicrs104893744GRCh37Chr 3, 70008461: 70008461
4MITFMITF, 1-BP DELdeletionPathogenicChr na, -1: -1
5MITFNM_198159.2(MITF): c.943C> T (p.Arg315Ter)SNVPathogenicrs104893746GRCh37Chr 3, 70005611: 70005611
6MITFNM_198159.2(MITF): c.1195T> C (p.Ser399Pro)SNVPathogenicrs104893747GRCh37Chr 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
1positive regulation of transcription from RNA polymerase II promoterGO:00459449.8MITF, TFE3
2regulation of osteoclast differentiationGO:00456709.8MITF, TFE3
3transcription from RNA polymerase II promoterGO:00063669.1MITF, TFE3

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

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:00469839.8MITF, TFE3
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.7MITF, TFE3
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.1MITF, TFE3

Sources for Waardenburg Syndrome, Type 2a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet