MCID: WRD032
MIFTS: 37

Waardenburg Syndrome, Type 2a

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

Aliases & Classifications for Waardenburg Syndrome, Type 2a

MalaCards integrated aliases for Waardenburg Syndrome, Type 2a:

Name: Waardenburg Syndrome, Type 2a 53 13
Waardenburg Syndrome Type 2a 12 72 49 28
Ws2a 53 12 49 71
Waardenburg Syndrome, Type Iia 53 69
Waardenburg Syndrome Without Dystopia Canthorum 53
Waardenburg Syndrome Type Iia 12
Waardenburg Syndrome 2a 71
Ws2 53

Characteristics:

OMIM:

53
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:

31
waardenburg syndrome, type 2a:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Waardenburg Syndrome, Type 2a

OMIM : 53 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 waardenburg syndrome type 2a, is related to waardenburg syndrome, type 2b and waardenburg syndrome, type 2c, and has symptoms including wide nasal bridge, underdeveloped nasal alae and heterochromia iridis. 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.

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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Waardenburg syndrome.

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.

Wikipedia : 72 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

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:

53
Head And Neck Nose:
wide nasal bridge
hypoplastic alae nasi

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

Head And Neck Ears:
deafness, congenital sensorineural

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

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 31 HP:0000431
2 underdeveloped nasal alae 31 HP:0000430
3 heterochromia iridis 31 HP:0001100
4 premature graying of hair 31 HP:0002216
5 white forelock 31 HP:0002211
6 synophrys 31 HP:0000664
7 white eyebrow 31 HP:0002226
8 white eyelashes 31 HP:0002227
9 congenital sensorineural hearing impairment 31 HP:0008527
10 partial albinism 31 HP:0007443
11 hypoplastic iris stroma 31 HP:0007990
12 albinism 31 HP:0001022

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

43
# 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:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2a 28 MITF

Anatomical Context for Waardenburg Syndrome, Type 2a

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

38
Skin, Eye

Publications for Waardenburg Syndrome, Type 2a

Articles related to Waardenburg Syndrome, Type 2a:

# Title Authors Year
1
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis. ( 29094203 )
2017
2
Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. ( 9170159 )
1997
3
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
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.442-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 69949049: 69949049
2 MITF NM_000248.3(MITF): c.33+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 69936756: 69936756
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:

# Super pathways Score Top Affiliating Genes
1 11.23 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:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.26 MITF TFE3
2 positive regulation of transcription, DNA-templated GO:0045893 9.16 MITF TFE3
3 humoral immune response GO:0006959 8.96 MITF TFE3
4 regulation of osteoclast differentiation GO:0045670 8.62 MITF TFE3

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.16 MITF TFE3
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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