WS2E
MCID: WRD025
MIFTS: 42

Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement (WS2E) malady

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

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

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Sources:
11Disease Ontology, 12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

Name: Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 52 12
Waardenburg Syndrome Type Iie 11 24 70
Waardenburg Syndrome Type 2 48 54 68
Ws2e 11 24 70
Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation 11 70
Waardenburg Syndrome Type 2e with or Without Neurologic Involvement 11 70
Waardenburg Syndrome Type Ii 24 54
Waardenburg Syndrome 2e 70 27
 
Ws 2 48 24
Ws2 24 54
Kallmann Syndrome and Deafness with or Without Hypopigmentation 70
Ws2e with or Without Neurological Involvement 11
Ws2e with or Without Neurologic Involvement 70
Waardenburg Syndrome, Type Iie 68
Waardenburg Syndrome Type 2e 11
Ws Type 2 48

Characteristics:

Orphanet epidemiological data:

54
waardenburg syndrome type 2:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
waardenburg syndrome, type 2e, with or without neurologic involvement:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 611584
Disease Ontology11 DOID:0110956
Orphanet54 ORPHA895
MESH via Orphanet40 C536463
UMLS via Orphanet69 C2700265
ICD10 via Orphanet31 E70.3
MeSH39 D014849

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

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NIH Rare Diseases:48 Waardenburg syndrome type 2 (ws2) is a type of waardenburg syndrome characterized by varying degrees of deafness and pigmentation (coloring) abnormalities of the eyes, hair and/or skin. ws2 differs from ws1 and some other types of ws by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes). sensorineural hearing loss occurs in the majority of people with ws2, and heterochromia iridis (differences in eye coloring) occurs in about half. ws2 may be caused by changes (mutations) in any of several genes, but in many cases the genetic cause is unknown. while inheritance is usually autosomal dominant, sometimes ws2 is not inherited, occurring for the first time in someone with no family history of the condition. treatment may include the use of hearing aids and/or cosmetic products (if desired) for skin hypopigmentation. waardenburg syndrome type 2 can be further divided into subtypes based on the genetic cause, when it can be identified. last updated: 6/28/2016

MalaCards based summary: Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement, also known as waardenburg syndrome type iie, is related to waardenburg syndrome/ocular albinism, digenic and waardenburg syndrome, type 1, and has symptoms including Array, Array and Array. An important gene associated with Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement is SOX10 (SRY-Box 10), and among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are Decreased Aire reporter expression and limbs/digits/tail.

UniProtKB/Swiss-Prot:70 Waardenburg syndrome 2E: An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome.

OMIM:52 Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (611584) more...

Disease Ontology:11 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 mutations in the SOX10 gene on chromosome 22q13.

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 & Phenotypes 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

Human phenotypes related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

 54 64 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment54 Very frequent (99-80%)
2 premature graying of hair64 54 Very frequent (99-80%) HP:0002216
3 hypopigmentation of hair54 Very frequent (99-80%)
4 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
5 hypopigmented skin patches64 54 Frequent (79-30%) HP:0001053
6 heterochromia iridis64 54 Frequent (79-30%) HP:0001100
7 white forelock64 54 Frequent (79-30%) HP:0002211
8 abnormality of the kidney64 54 Occasional (29-5%) HP:0000077
9 telecanthus64 54 Occasional (29-5%) HP:0000506
10 ptosis64 54 Occasional (29-5%) HP:0000508
11 aganglionic megacolon64 54 Occasional (29-5%) HP:0002251
12 abnormality of the pulmonary artery64 54 Occasional (29-5%) HP:0004414
13 anosmia64 HP:0000458
14 blue irides64 HP:0000635
15 nystagmus64 HP:0000639
16 pectus excavatum64 HP:0000767
17 cafe-au-lait spot64 HP:0000957
18 ocular albinism64 HP:0001107
19 intellectual disability64 HP:0001249
20 global developmental delay64 HP:0001263
21 hypertonia64 HP:0001276
22 white eyebrow64 HP:0002226
23 white eyelashes64 HP:0002227
24 cerebral hypomyelination64 HP:0006808
25 hypoplasia of the iris64 HP:0007676
26 hypopigmentation of the fundus64 HP:0007894
27 muscular hypotonia of the trunk64 HP:0008936
28 dilated vestibule of the inner ear64 HP:0011379
29 aplasia of the semicircular canal64 HP:0011381
30 hypoplasia of the semicircular canal64 HP:0011382
31 microcephaly64 HP:0000252

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00304-A10.0SNAI2, SOX10

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.6KITLG, MITF, SOX10
2MP:00053829.3KITLG, MITF, SNAI2
3MP:00053808.8KITLG, MITF, SNAI2, SOX10
4MP:00053798.8KITLG, MITF, SNAI2, SOX10
5MP:00107718.8KITLG, MITF, SNAI2, SOX10
6MP:00036318.6KITLG, MITF, SNAI2, SOX10
7MP:00011868.0KITLG, MITF, SNAI2, SOX10

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

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Interventional clinical trials:

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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 2e27
2 Waardenburg Syndrome Type 227
3 Waardenburg Syndrome Type Ii24 SOX10
4 Waardenburg Syndrome Type Iie24 SOX10

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:

36
Skin, Eye, Kidney

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:

70
id Symbol AA change Variation ID SNP ID
1SOX10p.Ser135ThrVAR_021386rs74315515
2SOX10p.Met112IleVAR_066748
3SOX10p.Arg161HisVAR_066753rs750566714

Clinvar genetic disease variations for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SOX10NM_ 006941.3(SOX10): c.316C> G (p.Arg106Gly)SNVLikely pathogenicrs1057518656GRCh37Chr 22, 38379476: 38379476

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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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
1melanocyte differentiationGO:003031810.1MITF, SOX10
2neural crest cell migrationGO:00017559.8KITLG, SOX10
3negative regulation of canonical Wnt signaling pathwayGO:00900909.6SNAI2, SOX10
4pigmentationGO:00434739.1MITF, SNAI2
5negative regulation of apoptotic processGO:00430669.1KITLG, SNAI2, SOX10

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.1SNAI2, SOX10

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

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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