MCID: WRD025
MIFTS: 41

Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 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...

About this section
Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

Name: Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 51 12
Waardenburg Syndrome Type 2 47 53 67
Waardenburg Syndrome Type Iie 24 69
Waardenburg Syndrome Type Ii 24 53
Waardenburg Syndrome 2e 69 26
Ws 2 47 24
Ws2e 24 69
Ws2 24 53
 
Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation 69
Waardenburg Syndrome Type 2e with or Without Neurologic Involvement 69
Kallmann Syndrome and Deafness with or Without Hypopigmentation 69
Ws2e with or Without Neurologic Involvement 69
Waardenburg Syndrome, Type Iia 67
Waardenburg Syndrome, Type Iie 67
Ws Type 2 47

Characteristics:

Orphanet epidemiological data:

53
waardenburg syndrome type 2:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

63
waardenburg syndrome, type 2e, with or without neurologic involvement:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 611584
Orphanet53 ORPHA895
MESH via Orphanet39 C536463
UMLS via Orphanet68 C2700265
ICD10 via Orphanet30 E70.3
MeSH38 D014849

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

About this section
NIH Rare Diseases:47 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 2, is related to waardenburg syndrome, type 1 and waardenburg syndrome/ocular albinism, digenic, and has symptoms including sensorineural hearing impairment, heterochromia iridis and premature graying of hair. 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 Regulation of Wnt-mediated beta catenin signaling and target gene transcription 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 limbs/digits/tail and craniofacial.

OMIM:51 Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (611584) more...

UniProtKB/Swiss-Prot:69 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.

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

About this section

Graphical network of 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 for Waardenburg Syndrome, Type 2e, with or Without Neurologic...

About this section

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:

 63 53 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Frequent (79-30%) HP:0000407
2 heterochromia iridis63 53 hallmark (90%) Frequent (79-30%) HP:0001100
3 premature graying of hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002216
4 hypopigmented skin patches63 53 typical (50%) Frequent (79-30%) HP:0001053
5 white forelock63 53 typical (50%) Frequent (79-30%) HP:0002211
6 abnormality of the kidney63 53 occasional (7.5%) Occasional (29-5%) HP:0000077
7 telecanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000506
8 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
9 aganglionic megacolon63 53 occasional (7.5%) Occasional (29-5%) HP:0002251
10 abnormality of the pulmonary artery63 53 occasional (7.5%) Occasional (29-5%) HP:0004414
11 anosmia63 rare (5%) HP:0000458
12 ocular albinism63 rare (5%) HP:0001107
13 blue irides63 HP:0000635
14 nystagmus63 HP:0000639
15 pectus excavatum63 HP:0000767
16 cafe-au-lait spot63 HP:0000957
17 intellectual disability63 HP:0001249
18 global developmental delay63 HP:0001263
19 hypertonia63 HP:0001276
20 white eyebrow63 HP:0002226
21 white eyelashes63 HP:0002227
22 cerebral hypomyelination63 HP:0006808
23 hypoplasia of the iris63 HP:0007676
24 hypopigmentation of the fundus63 HP:0007894
25 muscular hypotonia of the trunk63 HP:0008936
26 dilated vestibule of the inner ear63 HP:0011379
27 aplasia of the semicircular canal63 HP:0011381
28 hypoplasia of the semicircular canal63 HP:0011382
29 microcephaly53 Very frequent (99-80%)
30 hearing impairment53 Very frequent (99-80%)
31 hypopigmentation of hair53 Very frequent (99-80%)

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement

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

About this section

Genetic tests related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2e26
2 Waardenburg Syndrome Type 226
3 Waardenburg Syndrome Type Ii24 SOX10
4 Waardenburg Syndrome Type Iie24 SOX10

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

About this section

MalaCards organs/tissues related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

35
Skin, Eye, Kidney

Animal Models for Waardenburg Syndrome, Type 2e, with or Without Neurologic... or affiliated genes

About this section

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.4KITLG, MITF, SOX10
2MP:00053829.4KITLG, MITF, SNAI2
3MP:00053819.4KITLG, SNAI2, SOX10
4MP:00053808.8KITLG, MITF, SNAI2, SOX10
5MP:00053798.8KITLG, MITF, SNAI2, SOX10
6MP:00053788.8KITLG, MITF, SNAI2, SOX10
7MP:00107718.8KITLG, MITF, SNAI2, SOX10
8MP:00036318.6KITLG, MITF, SNAI2, SOX10
9MP:00011868.0KITLG, MITF, SNAI2, SOX10

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

About this section

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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement:

69
id Symbol AA change Variation ID SNP ID
1SOX10p.Ser135ThrVAR_021386rs74315515
2SOX10p.Met112IleVAR_066748
3SOX10p.Arg161HisVAR_066753rs750566714

Expression for genes affiliated with Waardenburg Syndrome, Type 2e, with or Without Neurologic...

About this section
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...

About this section

GO Terms for genes affiliated with Waardenburg Syndrome, Type 2e, with or Without Neurologic...

About this section

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:00303189.9MITF, SOX10
2neural crest cell migrationGO:00017559.5KITLG, SOX10
3negative regulation of canonical Wnt signaling pathwayGO:00900909.3SNAI2, SOX10
4negative regulation of apoptotic processGO:00430668.2KITLG, 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:00037059.3SNAI2, SOX10

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet