MCID: WRD032
MIFTS: 36

Waardenburg Syndrome, Type 2a

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

Aliases & Classifications for Waardenburg Syndrome, Type 2a

MalaCards integrated aliases for Waardenburg Syndrome, Type 2a:

Name: Waardenburg Syndrome, Type 2a 54 13
Ws2a 12 50 24 71
Waardenburg Syndrome Type 2a 12 50 29
Waardenburg Syndrome Type Iia 12 24
Waardenburg Syndrome, Type Iia 69
Waardenburg Syndrome 2a 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity of each feature
genetic heterogeneity of waardenburg syndrome type 2
other variants of waardenburg syndrome include waardenburg syndrome type 1 , waardenburg syndrome type 3 , and waardenburg syndrome type 4


HPO:

32
waardenburg syndrome, type 2a:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Waardenburg Syndrome, Type 2a

OMIM : 54
Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). (193510)

MalaCards based summary : Waardenburg Syndrome, Type 2a, also known as ws2a, is related to waardenburg syndrome, type 2e, with or without neurologic involvement and waardenburg syndrome, type 2b, and has symptoms including white forelock, wide nasal bridge and synophrys. An important gene associated with Waardenburg Syndrome, Type 2a is MITF (Melanogenesis Associated Transcription Factor), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Mitophagy - animal. Affiliated tissues include skin and eye, and related phenotype is pigmentation.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on waardenburg syndrome.

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in heterozygous mutation in the MITF gene on chromosome 3p13.

Related Diseases for Waardenburg Syndrome, Type 2a

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 2a:



Diseases related to Waardenburg Syndrome, Type 2a

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2a

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Hair:
white forelock
white eyelashes and eyebrows
premature graying of hair

Head And Neck- Eyes:
synophrys
hypoplastic iris stoma
dystopia canthorum absent
heterochromia iridis

Head And Neck- Ears:
deafness, congenital sensorineural

Head And Neck- Nose:
wide nasal bridge
hypoplastic alae nasi

Skin Nails & Hair- Skin:
congenital partial albinism (leukoderma) on face, trunk, or limbs


Clinical features from OMIM:

193510

Human phenotypes related to Waardenburg Syndrome, Type 2a:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 white forelock 32 HP:0002211
2 wide nasal bridge 32 HP:0000431
3 synophrys 32 HP:0000664
4 premature graying of hair 32 HP:0002216
5 heterochromia iridis 32 HP:0001100
6 white eyelashes 32 HP:0002227
7 hypoplastic iris stroma 32 HP:0007990
8 albinism 32 HP:0001022
9 underdeveloped nasal alae 32 HP:0000430
10 white eyebrow 32 HP:0002226
11 congenital sensorineural hearing impairment 32 HP:0008527
12 partial albinism 32 HP:0007443

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 MITF TFE3

Drugs & Therapeutics for Waardenburg Syndrome, Type 2a

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

Genetic Tests for Waardenburg Syndrome, Type 2a

Genetic tests related to Waardenburg Syndrome, Type 2a:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2a 29
2 Waardenburg Syndrome Type Iia 24 MITF

Anatomical Context for Waardenburg Syndrome, Type 2a

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

39
Skin, Eye

Publications for Waardenburg Syndrome, Type 2a

Articles related to Waardenburg Syndrome, Type 2a:

id Title Authors Year
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

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

71
id Symbol AA change Variation ID SNP ID
1 MITF p.Ser357Pro VAR_010300 rs104893744
2 MITF p.Asn385Asp VAR_010301
3 MITF p.Ser405Pro VAR_010302 rs104893747

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.33+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 69985907: 69985907
2 MITF NM_000248.3(MITF): c.442-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 69949049: 69949049
3 MITF NM_198159.2(MITF): c.1051T> C (p.Ser351Pro) single nucleotide variant Pathogenic rs104893744 GRCh37 Chromosome 3, 70008461: 70008461
4 MITF NM_000248.3(MITF): c.824delA (p.Glu275Glyfs) deletion Pathogenic GRCh37 Chromosome 3, 70008537: 70008537
5 MITF NM_198159.2(MITF): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs104893746 GRCh37 Chromosome 3, 70005611: 70005611
6 MITF NM_198159.2(MITF): c.1195T> C (p.Ser399Pro) single nucleotide variant Pathogenic rs104893747 GRCh37 Chromosome 3, 70014031: 70014031
7 MITF NM_198159.2(MITF): c.1190delG (p.Gly397Aspfs) deletion Pathogenic rs878853234 GRCh38 Chromosome 3, 69964875: 69964875
8 MITF NM_000248.3(MITF): c.618G> C (p.Lys206Asn) single nucleotide variant Pathogenic rs1057519325 GRCh38 Chromosome 3, 69951870: 69951870
9 MITF NM_000248.3(MITF): c.649A> G (p.Arg217Gly) single nucleotide variant Pathogenic rs1057519326 GRCh38 Chromosome 3, 69956469: 69956469
10 MITF NM_000248.3(MITF): c.635-1G> A single nucleotide variant Pathogenic rs1057519327 GRCh38 Chromosome 3, 69956454: 69956454

Expression for Waardenburg Syndrome, Type 2a

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

Pathways for Waardenburg Syndrome, Type 2a

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

id Super pathways Score Top Affiliating Genes
1 11.21 MITF TFE3
2 10.44 MITF TFE3

GO Terms for Waardenburg Syndrome, Type 2a

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.96 MITF TFE3
2 transcription from RNA polymerase II promoter GO:0006366 8.62 MITF TFE3

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.16 MITF TFE3
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 8.96 MITF TFE3
3 protein dimerization activity GO:0046983 8.62 MITF TFE3

Sources for Waardenburg Syndrome, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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