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...

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

Name: Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 54 13
Waardenburg Syndrome Type Iie 12 24 66
Waardenburg Syndrome Type 2 50 56 69
Ws2e 12 24 66
Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation 12 66
Waardenburg Syndrome Type 2e with or Without Neurologic Involvement 12 66
Waardenburg Syndrome Type Ii 24 56
Waardenburg Syndrome 2e 66 29
Ws 2 50 24
Ws2 24 56
Kallmann Syndrome and Deafness with or Without Hypopigmentation 66
Ws2e with or Without Neurological Involvement 12
Ws2e with or Without Neurologic Involvement 66
Waardenburg Syndrome, Type Iie 69
Waardenburg Syndrome Type 2e 12
Ws Type 2 50

Characteristics:

Orphanet epidemiological data:

56
waardenburg syndrome type 2
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
waardenburg syndrome, type 2e, with or without neurologic involvement:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 611584
Disease Ontology 12 DOID:0110956
Orphanet 56 ORPHA895
MESH via Orphanet 43 C536463
UMLS via Orphanet 70 C2700265
ICD10 via Orphanet 34 E70.3
MeSH 42 D014849

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

NIH Rare Diseases : 50 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 ptosis, sensorineural hearing impairment and hypopigmented skin patches. An important gene associated with Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement is SOX10 (SRY-Box 10), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Kit receptor signaling pathway. Affiliated tissues include skin, eye and kidney, and related phenotypes are Decreased Aire reporter expression and embryo

UniProtKB/Swiss-Prot : 66 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 : 54 Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (611584) more...

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 mutations in the SOX10 gene on chromosome 22q13.

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

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...

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:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 56 32 Occasional (29-5%) HP:0000508
2 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
3 hypopigmented skin patches 56 32 Frequent (79-30%) HP:0001053
4 telecanthus 56 32 Occasional (29-5%) HP:0000506
5 heterochromia iridis 56 32 Frequent (79-30%) HP:0001100
6 premature graying of hair 56 32 Very frequent (99-80%) HP:0002216
7 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
8 abnormality of the kidney 56 32 Occasional (29-5%) HP:0000077
9 white forelock 56 32 Frequent (79-30%) HP:0002211
10 abnormality of the pulmonary artery 56 32 Occasional (29-5%) HP:0004414
11 anosmia 32 HP:0000458
12 pectus excavatum 32 HP:0000767
13 nystagmus 32 HP:0000639
14 intellectual disability 32 HP:0001249
15 hearing impairment 56 Very frequent (99-80%)
16 global developmental delay 32 HP:0001263
17 microcephaly 32 HP:0000252
18 hypertonia 32 HP:0001276
19 hypopigmentation of hair 56 Very frequent (99-80%)
20 blue irides 32 HP:0000635
21 hypoplasia of the iris 32 HP:0007676
22 aplasia of the semicircular canal 32 HP:0011381
23 white eyebrow 32 HP:0002226
24 white eyelashes 32 HP:0002227
25 ocular albinism 32 HP:0001107
26 hypopigmentation of the fundus 32 HP:0007894
27 muscular hypotonia of the trunk 32 HP:0008936
28 cafe-au-lait spot 32 HP:0000957
29 cerebral hypomyelination 32 HP:0006808
30 hypoplasia of the semicircular canal 32 HP:0011382
31 dilated vestibule of the inner ear 32 HP:0011379

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Aire reporter expression GR00304-A 8.62 SNAI2 SOX10

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.67 KITLG MITF SNAI2 SOX10
2 endocrine/exocrine gland MP:0005379 9.62 KITLG MITF SNAI2 SOX10
3 craniofacial MP:0005382 9.58 KITLG MITF SNAI2
4 integument MP:0010771 9.56 KITLG MITF SNAI2 SOX10
5 limbs/digits/tail MP:0005371 9.33 KITLG MITF SOX10
6 nervous system MP:0003631 9.26 SNAI2 SOX10 KITLG MITF
7 pigmentation MP:0001186 8.92 KITLG MITF SNAI2 SOX10

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

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

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

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

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2e 29
2 Waardenburg Syndrome Type 2 29
3 Waardenburg Syndrome Type Ii 24 SOX10
4 Waardenburg Syndrome Type Iie 24 SOX10

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

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

39
Skin, Eye, Kidney

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 SOX10 p.Ser135Thr VAR_021386 rs74315515
2 SOX10 p.Met112Ile VAR_066748
3 SOX10 p.Arg161His VAR_066753 rs750566714

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SOX10 NM_006941.3(SOX10): c.404G> C (p.Ser135Thr) single nucleotide variant Pathogenic rs74315515 GRCh37 Chromosome 22, 38379388: 38379388
2 SOX10 NM_006941.3(SOX10): c.219_428+43del deletion Pathogenic GRCh37 Chromosome 22, 38379321: 38379573
3 SOX10 NM_006941.3(SOX10): c.429-1112_697+396del deletion Pathogenic GRCh37 Chromosome 22, 38373478: 38375254
4 SOX10 NM_006941.3(SOX10): c.506delC (p.Pro169Argfs) deletion Pathogenic rs397515369 GRCh37 Chromosome 22, 38374065: 38374065
5 SOX10 NM_006941.3(SOX10): c.743_744delAG (p.Glu248Alafs) deletion Pathogenic rs397515386 GRCh37 Chromosome 22, 38370159: 38370160
6 SOX10 NM_006941.3(SOX10): c.113delG (p.Gly38Alafs) deletion Pathogenic rs397515387 GRCh37 Chromosome 22, 38379679: 38379679
7 SOX10 NM_006941.3(SOX10): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs397515457 GRCh37 Chromosome 22, 38379790: 38379790
8 SOX10 NM_006941.3(SOX10): c.316C> G (p.Arg106Gly) single nucleotide variant Likely pathogenic rs1057518656 GRCh37 Chromosome 22, 38379476: 38379476

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

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement.

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

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

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.43 KITLG SNAI2 SOX10
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.32 SNAI2 SOX10
3 pigmentation GO:0043473 9.16 MITF SNAI2
4 neural crest cell migration GO:0001755 8.96 KITLG SOX10
5 melanocyte differentiation GO:0030318 8.62 MITF SOX10

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 SNAI2 SOX10

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

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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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