WS2E
MCID: WRD033
MIFTS: 53

Waardenburg Syndrome, Type 2e (WS2E)

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

Aliases & Classifications for Waardenburg Syndrome, Type 2e

MalaCards integrated aliases for Waardenburg Syndrome, Type 2e:

Name: Waardenburg Syndrome, Type 2e 56
Waardenburg Syndrome Type 2 74 52 58 29 6 71
Waardenburg Syndrome Type 2e 12 29 6 15
Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 56 13 39
Ws2e 56 12 73
Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation 12 73
Waardenburg Syndrome Type 2e with or Without Neurologic Involvement 12 73
Waardenburg Syndrome, Type Iie 56 71
Waardenburg Syndrome Type Iie 12 73
Hypogonadotropic Hypogonadism with Anosmia and Deafness, with or Without Hypopigmentation 56
Kallmann Syndrome and Deafness with or Without Hypopigmentation 73
Waardenburg Syndrome Type 2e, Without Neurologic Involvement 6
Ws2e with or Without Neurological Involvement 12
Ws2e, with or Without Neurologic Involvement 56
Ws2e with or Without Neurologic Involvement 73
Waardenburg Syndrome Type Ii 58
Waardenburg Syndrome 2e 73
Ws Type 2 52
Ws 2 52
Ws-2 17
Ws2 58

Characteristics:

Orphanet epidemiological data:

58
waardenburg syndrome type 2
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
genetic heterogeneity
incomplete penetrance of some features


HPO:

31
waardenburg syndrome, type 2e:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110956
OMIM 56 611584
OMIM Phenotypic Series 56 PS193500
MeSH 43 D014849
MESH via Orphanet 44 C536463
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C2700265
Orphanet 58 ORPHA895
UMLS 71 C2700265 C2700405

Summaries for Waardenburg Syndrome, Type 2e

NIH Rare Diseases : 52 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 type 1 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. Progressive hearing loss has also been reported in some people with WS2. 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 or treatments (if desired) for skin hypopigmentation. Waardenburg syndrome type 2 can be further divided into subtypes based on the genetic cause, when the responsible gene can be identified.

MalaCards based summary : Waardenburg Syndrome, Type 2e, also known as waardenburg syndrome type 2, is related to albinism, ocular, with late-onset sensorineural deafness and waardenburg syndrome, type 2b. An important gene associated with Waardenburg Syndrome, Type 2e is SOX10 (SRY-Box Transcription Factor 10), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Pathways in cancer. Affiliated tissues include eye, skin and olfactory bulb, and related phenotypes are premature graying of hair and sensorineural hearing impairment

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.

OMIM : 56 Waardenburg syndrome type 2 is an 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 inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (602229), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580). (611584)

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of... more...

Related Diseases for Waardenburg Syndrome, Type 2e

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 2e via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with late-onset sensorineural deafness 32.3 TYR SOX10 PAX3 MITF
2 waardenburg syndrome, type 2b 31.8 SOX10 MITF EDN3
3 ocular albinism with congenital sensorineural deafness 31.7 TYR PAX3 MITF
4 waardenburg syndrome, type 2a 31.6 TFEC SOX10 POLR2F PAX3 MITF EDNRB
5 waardenburg syndrome, type 2d 31.3 SOX10 SNAI2 PAX3 MITF EDNRB
6 waardenburg syndrome, type 4c 31.2 SOX10 POLR2F PAX3 MITF EDNRB EDN3
7 waardenburg syndrome, type 2c 31.0 SOX10 PAX3 MITF EDNRB EDN3
8 waardenburg syndrome type 4 29.9 SOX10 MITF EDNRB EDN3
9 megacolon 29.4 SOX10 PAX3 MITF EDNRB EDN3
10 tietz albinism-deafness syndrome 28.9 TYR TFEC SOX10 SNAI2 PAX3 MITF
11 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 28.9 SOX10 POLR2F PAX3 MITF EDNRB EDN3
12 waardenburg syndrome, type 1 28.8 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
13 hirschsprung disease 1 28.7 SOX10 SNAI2 POLR2F PAX3 MITF EDNRB
14 waardenburg syndrome, type 4b 28.3 TYR SOX10 SNAI2 PMEL PAX3 MITF
15 microphthalmia 27.9 TYR TFEC SOX10 PMEL PAX3 MITF
16 waardenburg syndrome, type 4a 27.9 SOX10 SNAI2 POLR2F PAX3 MITF EDNRB
17 waardenburg's syndrome 27.9 TYR SOX10 SNAI2 POLR2F PAX3 MITF
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
19 triiodothyronine receptor auxiliary protein 10.5
20 sensorineural hearing loss 10.5
21 rapidly involuting congenital hemangioma 10.4
22 helix syndrome 10.3
23 branchiootic syndrome 1 10.2
24 malignant choroid melanoma 10.2 SOX10 MITF
25 heterochromia iridis 10.1
26 albinism, oculocutaneous, type ia 10.1
27 skin/hair/eye pigmentation, variation in, 3 10.1
28 albinism, oculocutaneous, type ib 10.1
29 melanoma, cutaneous malignant 8 10.1
30 ocular albinism 10.1
31 albinism 10.1
32 ocular albinism, x-linked 10.1
33 posttransplant acute limbic encephalitis 10.1
34 intestinal pseudo-obstruction 10.1 SOX10 EDN3
35 epithelioid cell melanoma 10.1 TYR MITF
36 large congenital melanocytic nevus 10.0 SOX10 MITF
37 ochronosis 10.0 TYR MITF
38 cochlear disease 10.0 SOX10 EDNRB EDN3
39 hypomelanosis of ito 10.0 TYR MITF
40 goldberg-shprintzen syndrome 10.0 EDNRB EDN3
41 nodular malignant melanoma 10.0 TYR MITF
42 atrial standstill 1 10.0
43 ear malformation 10.0
44 pseudoxanthoma elasticum 10.0
45 albinism-deafness syndrome 10.0
46 dilated cardiomyopathy 10.0
47 facial paralysis 10.0
48 cataract 10.0
49 catatrichy 10.0
50 retinitis pigmentosa-deafness syndrome 10.0

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 2e:



Diseases related to Waardenburg Syndrome, Type 2e

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2e

Human phenotypes related to Waardenburg Syndrome, Type 2e:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
2 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
3 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
4 heterochromia iridis 58 31 frequent (33%) Frequent (79-30%) HP:0001100
5 white forelock 58 31 frequent (33%) Frequent (79-30%) HP:0002211
6 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
7 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
8 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
9 abnormality of the kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000077
10 abnormality of the pulmonary artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004414
11 anosmia 31 occasional (7.5%) HP:0000458
12 ocular albinism 31 occasional (7.5%) HP:0001107
13 hearing impairment 58 Very frequent (99-80%)
14 intellectual disability 31 HP:0001249
15 global developmental delay 31 HP:0001263
16 hypertonia 31 HP:0001276
17 nystagmus 31 HP:0000639
18 pectus excavatum 31 HP:0000767
19 blue irides 31 HP:0000635
20 hypoplasia of the iris 31 HP:0007676
21 hypopigmentation of hair 58 Very frequent (99-80%)
22 hypoplasia of the semicircular canal 31 HP:0011382
23 aplasia of the semicircular canal 31 HP:0011381
24 white eyebrow 31 HP:0002226
25 white eyelashes 31 HP:0002227
26 hypopigmentation of the fundus 31 HP:0007894
27 cafe-au-lait spot 31 HP:0000957
28 muscular hypotonia of the trunk 31 HP:0008936
29 cerebral hypomyelination 31 HP:0006808
30 dilatation 31 HP:0002617
31 dilated vestibule of the inner ear 31 HP:0011379

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
bright blue eyes
retinal hypopigmentation
hypoplastic irides
hypopigmented irides
more
Chest External Features:
pectus excavatum

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
increased muscle tone
axial hypotonia
a subset of patients have neurologic abnormalities
more
Head And Neck Nose:
absence of the olfactory bulbs (reported in 1 patient)
anosmia (in some patients)

Skeletal Skull:
bilateral temporal bone abnormalities

Skin Nails Hair Skin:
hypopigmented skin patches
cafe-au-lait spots
freckles

Skin Nails Hair Hair:
white forelock
white eyelashes
white eyebrows
premature graying

Head And Neck Ears:
deafness, sensorineural
small cochlea
abnormally shaped cochlea
absence of the cochlear nerves (reported in 1 patient)
hypoplasia or agenesis of the semicircular canals
more
Head And Neck Teeth:
delayed deciduous tooth eruption (reported in 1 patient)
large central incisors (reported in 1 patient)
irregularly placed dentition (reported in 1 patient)

Clinical features from OMIM:

611584

GenomeRNAi Phenotypes related to Waardenburg Syndrome, Type 2e according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 PAX3 PMEL POLR2F
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 PAX3 PMEL POLR2F SNAI2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 SOX10

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

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 APPL1 EDN3 EDNRB MITF PAX3 PMEL
2 homeostasis/metabolism MP:0005376 10.18 APPL1 EDNRB KITLG MITF PAX3 PMEL
3 integument MP:0010771 10.16 EDN3 EDNRB KITLG MITF PAX3 PMEL
4 embryo MP:0005380 10.13 EDN3 EDNRB KITLG MITF PAX3 SNAI2
5 mortality/aging MP:0010768 10.06 APPL1 EDN3 EDNRB KITLG MITF PAX3
6 endocrine/exocrine gland MP:0005379 10.05 EDNRB KITLG MITF PAX3 SNAI2 SOX10
7 craniofacial MP:0005382 10.02 EDNRB KITLG MITF PAX3 SNAI2 TYR
8 digestive/alimentary MP:0005381 10.01 EDN3 EDNRB KITLG PAX3 SNAI2 SOX10
9 limbs/digits/tail MP:0005371 9.98 EDNRB KITLG MITF PAX3 SOX10 TFEC
10 nervous system MP:0003631 9.92 EDN3 EDNRB KITLG MITF PAX3 SNAI2
11 hearing/vestibular/ear MP:0005377 9.89 EDNRB KITLG MITF PAX3 TYR
12 pigmentation MP:0001186 9.85 EDN3 EDNRB KITLG MITF PAX3 PMEL
13 neoplasm MP:0002006 9.77 EDNRB KITLG PAX3 SOX10 TYR
14 no phenotypic analysis MP:0003012 9.73 APPL1 MITF PAX3 PMEL SOX10 TYR
15 skeleton MP:0005390 9.5 EDNRB KITLG MITF PAX3 SNAI2 TFEC
16 vision/eye MP:0005391 9.23 EDNRB KITLG MITF PAX3 PMEL SNAI2

Drugs & Therapeutics for Waardenburg Syndrome, Type 2e

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Use of Immersive Virtual Reality During Robot-assisted Walking in Healthy Adults - Effect of Changing the Optic Flow Speed in Two Different Virtual Environments on Active Participation During Robot-assisted Walking. Completed NCT03459014

Search NIH Clinical Center for Waardenburg Syndrome, Type 2e

Genetic Tests for Waardenburg Syndrome, Type 2e

Genetic tests related to Waardenburg Syndrome, Type 2e:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2e 29 SOX10
2 Waardenburg Syndrome Type 2 29

Anatomical Context for Waardenburg Syndrome, Type 2e

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

40
Eye, Skin, Olfactory Bulb, Bone, Brain, Kidney

Publications for Waardenburg Syndrome, Type 2e

Articles related to Waardenburg Syndrome, Type 2e:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. 6 56
23643381 2013
2
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. 56 6
19208381 2009
3
SOX10 mutation in Waardenburg syndrome type II. 56 6
18627047 2008
4
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. 56 6
18348267 2008
5
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 56 6
17999358 2007
6
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 56 6
10441344 1999
7
Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome. 6 56
8911608 1996
8
Hearing loss in Waardenburg syndrome: a systematic review. 56
26100139 2016
9
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
10
Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations. 56
23237859 2013
11
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. 6
21965087 2012
12
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. 6
20478267 2010
13
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. 56
12189494 2002
14
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. 6
10077527 1999
15
Waardenburg syndrome. 56
9279758 1997
16
[Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss]. 61
31030437 2019
17
Teaching NeuroImages: Waardenburg syndrome type 2. 61
30988093 2019
18
A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II. 61
30628718 2019
19
A homozygous MITF mutation leads to familial Waardenburg syndrome type 4. 61
30549420 2019
20
Waardenburg syndrome type 2. 61
30449927 2018
21
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10. 61
29792164 2018
22
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations. 61
29531335 2018
23
Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome. 61
29630160 2018
24
Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation. 61
28504826 2017
25
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2. 61
28356565 2017
26
[Clinical and genetic investigation of families with Waardenburg syndrome type 2]. 61
29798271 2016
27
A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report. 61
27073475 2016
28
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. 61
26522471 2015
29
Waardenburg syndrome type 2: an orthodontic perspective. 61
26429191 2015
30
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. 61
23020089 2013
31
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2. 61
23098757 2012
32
A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2. 61
22842075 2012
33
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. 61
22848661 2012
34
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. 61
20485200 2010
35
Electrodiagnostic findings in a patient with Waardenburg syndrome. 61
19730023 2009
36
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 61
18424413 2008
37
Neuroendocrine functions of melanocytes: beyond the skin-deep melanin maker. 61
17347546 2007
38
SLUG (SNAI2) overexpression in embryonic development. 61
16717446 2006
39
Waardenburg syndrome type 2 in an African patient. 61
16394488 2005
40
[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2]. 61
16324295 2005
41
SLUG in cancer development. 61
15735690 2005
42
Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform. 61
15715979 2005
43
Three cases of Waardenburg syndrome type 2 in a Korean family. 61
15635834 2004
44
Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. 61
14603070 2003
45
Microphthalmia-associated transcription factor in the Wnt signaling pathway. 61
12753399 2003
46
Clinical findings in Japanese patients with Waardenburg syndrome type 2. 61
12586183 2003
47
Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1. 61
12048204 2002
48
Cochlear melanocytes and MITF signaling. 61
11764294 2001
49
Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation. 61
11702731 2001
50
MITF: a stream flowing for pigment cells. 61
10952390 2000

Variations for Waardenburg Syndrome, Type 2e

ClinVar genetic disease variations for Waardenburg Syndrome, Type 2e:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOX10 NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)SNV Pathogenic 915452 22:38374092-38374092 22:37978085-37978085
2 SOX10 NM_006941.4(SOX10):c.1379del (p.Tyr460fs)deletion Pathogenic 915460 22:38369524-38369524 22:37973517-37973517
3 SOX10 NM_001301130.2(POLR2F):c.294-2773C>GSNV Pathogenic 7397 rs74315515 22:38379388-38379388 22:37983381-37983381
4 SOX10 NM_006941.3(SOX10):c.219_428+43deldeletion Pathogenic 7405 rs1555939381 22:38379321-38379573 22:37983314-37983566
5 SOX10 NM_006941.3(SOX10):c.429-1112_697+396deldeletion Pathogenic 7406 22:38373478-38375254 22:37977471-37979247
6 SOX10 NM_001301130.2(POLR2F):c.294-8094deldeletion Pathogenic 7407 rs397515369 22:38374065-38374065 22:37978058-37978058
7 SOX10 NM_001301130.2(POLR2F):c.293+6984_293+6985delshort repeat Pathogenic 30254 rs397515386 22:38370159-38370160 22:37974152-37974153
8 SOX10 NM_001301130.2(POLR2F):c.294-2481deldeletion Pathogenic 30255 rs397515387 22:38379679-38379679 22:37983672-37983672
9 SOX10 NM_001301130.2(POLR2F):c.294-2371A>CSNV Pathogenic 65483 rs397515457 22:38379790-38379790 22:37983783-37983783
10 SOX10 NM_006941.3(SOX10):c.1169C>G (p.Ser390Ter)SNV Pathogenic 545014 rs1569167607 22:38369734-38369734 22:37973727-37973727
11 SOX10 NM_006941.3(SOX10):c.487C>T (p.Gln163Ter)SNV Pathogenic 599071 rs1569169289 22:38374084-38374084 22:37978077-37978077
12 SOX10 NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)SNV Pathogenic 801016 22:38379366-38379366 22:37983359-37983359
13 SOX10 NM_006941.4(SOX10):c.428+2T>CSNV Likely pathogenic 635541 22:38379362-38379362 22:37983355-37983355
14 SOX10 NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)SNV Likely pathogenic 692195 22:38379389-38379389 22:37983382-37983382
15 MITF NM_001354604.2(MITF):c.355-1062G>CSNV Likely pathogenic 545639 rs1236436555 3:69985911-69985911 3:69936760-69936760
16 SOX10 NM_006941.3(SOX10):c.316C>G (p.Arg106Gly)SNV Likely pathogenic 374266 rs1057518656 22:38379476-38379476 22:37983469-37983469
17 SOX10 NM_006941.3(SOX10):c.334A>G (p.Met112Val)SNV Uncertain significance 547778 rs1555939439 22:38379458-38379458 22:37983451-37983451
18 SOX10 NM_006941.4(SOX10):c.482G>A (p.Arg161His)SNV Uncertain significance 873468 22:38374089-38374089 22:37978082-37978082
19 SOX10 NM_006941.3(SOX10):c.415G>T (p.Gly139Cys)SNV Uncertain significance 545013 rs1569171143 22:38379377-38379377 22:37983370-37983370

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 2e:

73
# 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

Expression for Waardenburg Syndrome, Type 2e

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2e.

Pathways for Waardenburg Syndrome, Type 2e

GO Terms for Waardenburg Syndrome, Type 2e

Cellular components related to Waardenburg Syndrome, Type 2e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 TFEC SOX10 SNAI2 PAX3 MITF

Biological processes related to Waardenburg Syndrome, Type 2e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.72 SOX10 SNAI2 MITF KITLG EDNRB
2 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.48 KITLG APPL1
3 peripheral nervous system development GO:0007422 9.46 SOX10 EDNRB
4 neural crest cell migration GO:0001755 9.46 SOX10 KITLG EDNRB EDN3
5 vasoconstriction GO:0042310 9.43 EDNRB EDN3
6 enteric nervous system development GO:0048484 9.4 SOX10 EDNRB
7 melanin biosynthetic process GO:0042438 9.37 TYR PMEL
8 vein smooth muscle contraction GO:0014826 9.26 EDNRB EDN3
9 pigmentation GO:0043473 9.26 TYR SNAI2 MITF EDNRB
10 melanocyte differentiation GO:0030318 8.92 SOX10 MITF EDNRB EDN3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.35 TFEC SOX10 SNAI2 PAX3 MITF
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 TFEC SOX10 SNAI2 PAX3 MITF

Sources for Waardenburg Syndrome, Type 2e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....