MCID: WRD025
MIFTS: 43

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:
50OMIM, 12diseasecard, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 23GeneTests, 68UniProtKB/Swiss-Prot, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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 50 12
Waardenburg Syndrome Type 2 46 52 66
Waardenburg Syndrome Type Iie 23 68
Waardenburg Syndrome 2e 68 25
Ws 2 46 23
Ws2e 23 68
Ws2 23 52
Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation 68
 
Waardenburg Syndrome Type 2e with or Without Neurologic Involvement 68
Kallmann Syndrome and Deafness with or Without Hypopigmentation 68
Ws2e with or Without Neurologic Involvement 68
Waardenburg Syndrome, Type Iia 66
Waardenburg Syndrome, Type Iie 66
Waardenburg Syndrome Type Ii 23
Ws Type 2 46

Characteristics:

Orphanet epidemiological data:

52
waardenburg syndrome type 2:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
waardenburg syndrome, type 2e, with or without neurologic involvement:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 611584
Orphanet52 ORPHA895
ICD10 via Orphanet29 E70.3
MESH via Orphanet38 C536463
UMLS via Orphanet67 C2700265
MeSH37 D014849

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

About this section
NIH Rare Diseases:46 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 craniofacial and digestive/alimentary.

UniProtKB/Swiss-Prot:68 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:50 Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (611584) more...

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

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

611584

Clinical features from OMIM:

611584

Symptoms:

 52 (show all 13)
  • abnormality of the kidney
  • microcephaly
  • hearing impairment
  • sensorineural hearing impairment
  • telecanthus
  • ptosis
  • hypopigmented skin patches
  • heterochromia iridis
  • white forelock
  • premature graying of hair
  • aganglionic megacolon
  • abnormality of the pulmonary artery
  • hypopigmentation of hair

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

(show all 33)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 heterochromia iridis hallmark (90%) HP:0001100
3 premature graying of hair hallmark (90%) HP:0002216
4 hypopigmented skin patches typical (50%) HP:0001053
5 white forelock typical (50%) HP:0002211
6 abnormality of the kidney occasional (7.5%) HP:0000077
7 telecanthus occasional (7.5%) HP:0000506
8 ptosis occasional (7.5%) HP:0000508
9 aganglionic megacolon occasional (7.5%) HP:0002251
10 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
11 anosmia rare (5%) HP:0000458
12 ocular albinism rare (5%) HP:0001107
13 sensorineural hearing impairment HP:0000407
14 blue irides HP:0000635
15 nystagmus HP:0000639
16 pectus excavatum HP:0000767
17 cafe-au-lait spot HP:0000957
18 hypopigmented skin patches HP:0001053
19 heterochromia iridis HP:0001100
20 intellectual disability HP:0001249
21 global developmental delay HP:0001263
22 hypertonia HP:0001276
23 white forelock HP:0002211
24 premature graying of hair HP:0002216
25 white eyebrow HP:0002226
26 white eyelashes HP:0002227
27 cerebral hypomyelination HP:0006808
28 hypoplasia of the iris HP:0007676
29 hypopigmentation of the fundus HP:0007894
30 muscular hypotonia of the trunk HP:0008936
31 dilated vestibule of the inner ear HP:0011379
32 aplasia of the semicircular canal HP:0011381
33 hypoplasia of the semicircular canal HP:0011382

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 2e25
2 Waardenburg Syndrome Type 225
3 Waardenburg Syndrome Type Ii23 SOX10
4 Waardenburg Syndrome Type Iie23 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9KITLG, MITF, SNAI2
2MP:00053818.6KITLG, SNAI2, SOX10
3MP:00053718.6KITLG, MITF, SOX10
4MP:00107718.4KITLG, MITF, SNAI2, SOX10
5MP:00011868.4KITLG, MITF, SNAI2, SOX10
6MP:00053808.2KITLG, MITF, SNAI2, SOX10
7MP:00036318.0KITLG, MITF, SNAI2, SOX10
8MP:00053797.9KITLG, MITF, SNAI2, SOX10
9MP:00053787.7KITLG, 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:

68
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:00900909.2SNAI2, SOX10
4negative regulation of apoptotic processGO:00430668.5KITLG, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet