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 57
Waardenburg Syndrome Type 2 73 20 58 29 6 70
Waardenburg Syndrome Type 2e 12 29 6 15
Ws2e 57 12 72
Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation 12 72
Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 57 13
Waardenburg Syndrome Type 2e with or Without Neurologic Involvement 12 72
Waardenburg Syndrome, Type Iie 57 70
Waardenburg Syndrome Type Iie 12 72
Hypogonadotropic Hypogonadism with Anosmia and Deafness, with or Without Hypopigmentation 57
Syndrome, Waardenburg, Type 2e, with or Without Neurologic Involvement 39
Kallmann Syndrome and Deafness with or Without Hypopigmentation 72
Waardenburg Syndrome Type 2e, Without Neurologic Involvement 6
Ws2e with or Without Neurological Involvement 12
Ws2e, with or Without Neurologic Involvement 57
Ws2e with or Without Neurologic Involvement 72
Waardenburg Syndrome Type Ii 58
Waardenburg Syndrome 2e 72
Ws Type 2 20
Ws 2 20
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®:

57 (Updated 05-Apr-2021)
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® 57 611584
OMIM Phenotypic Series 57 PS193500
MeSH 44 D014849
MESH via Orphanet 45 C536463
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 71 C2700265
Orphanet 58 ORPHA895
UMLS 70 C2700265 C2700405

Summaries for Waardenburg Syndrome, Type 2e

GARD : 20 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 ocular albinism with congenital sensorineural deafness and albinism, ocular, with late-onset sensorineural deafness. 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 Kit receptor signaling pathway. Affiliated tissues include eye, kidney and bone, 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 96)
# Related Disease Score Top Affiliating Genes
1 ocular albinism with congenital sensorineural deafness 31.7 TYR PAX3 MITF
2 albinism, ocular, with late-onset sensorineural deafness 31.6 TYR PAX3 MITF
3 waardenburg syndrome, type 2b 31.5 SOX10 MITF EDN3
4 waardenburg syndrome, type 2c 31.2 SOX10 MITF EDNRB EDN3
5 waardenburg syndrome, type 2d 31.2 SOX10 SNAI2 PAX3 MITF EDNRB
6 waardenburg syndrome, type 4c 30.7 SOX10 POLR2F PAX3 MITF EDNRB EDN3
7 waardenburg syndrome, type 2a 30.5 TYR TFEC TFEB SOX10 POLR2F PAX3
8 melanoma, cutaneous malignant 8 30.0 TYR MITF
9 tietz albinism-deafness syndrome 29.8 TYR TFEC SOX10 SNAI2 PAX3 MITF
10 megacolon 29.6 SOX10 PAX3 EDNRB EDN3
11 waardenburg syndrome type 4 29.5 SOX10 POLR2F MITF EDNRB EDN3
12 waardenburg syndrome, type 1 29.4 TYR SOX10 SNAI2 PAX3 MITF EDNRB
13 waardenburg syndrome, type 4b 29.1 TYR TFEB SOX10 SNAI2 PMEL PAX3
14 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 28.7 SOX8 SOX10 POLR2F PAX3 MITF EDNRB
15 hirschsprung disease 1 28.4 SOX8 SOX10 SNAI2 POLR2F PAX3 MITF
16 microphthalmia 28.2 TYR TFEC TFEB SOX10 PMEL PAX3
17 waardenburg's syndrome 26.4 TYR TFEC TFEB SOX8 SOX10 SNAI2
18 sensorineural hearing loss 10.5
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
20 triiodothyronine receptor auxiliary protein 10.4
21 malignant choroid melanoma 10.2 SOX10 MITF
22 rapidly involuting congenital hemangioma 10.2
23 crest syndrome 10.2 SOX10 EDNRB
24 heterochromia iridis 10.2
25 epithelioid cell melanoma 10.1 TYR MITF
26 ochronosis 10.1 TYR MITF
27 cochlear disease 10.1 SOX10 EDNRB EDN3
28 nodular malignant melanoma 10.1 TYR MITF
29 goldberg-shprintzen syndrome 10.1 EDNRB EDN3
30 intestinal pseudo-obstruction 10.0 SOX10 EDNRB EDN3
31 melanocytic nevus syndrome, congenital 10.0 TYR KITLG
32 orbit rhabdomyosarcoma 10.0 TYR PAX3
33 clear cell sarcoma 10.0 TYR SOX10 MITF
34 atrial standstill 1 10.0
35 ear malformation 10.0
36 hypogonadotropic hypogonadism 7 with or without anosmia 10.0
37 pseudoxanthoma elasticum 10.0
38 albinism-deafness syndrome 10.0
39 hypogonadotropic hypogonadism 10.0
40 dilated cardiomyopathy 10.0
41 facial paralysis 10.0
42 hypothyroidism 10.0
43 hypogonadism 10.0
44 kallmann syndrome 10.0
45 cataract 10.0
46 isolated gonadotropin-releasing hormone deficiency 10.0
47 large congenital melanocytic nevus 10.0 SOX10 MITF
48 actinic keratosis 10.0 TYR SOX10 MITF
49 neurilemmoma 10.0 TYR SOX10 MITF
50 branchiootic syndrome 1 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 heterochromia iridis 58 31 frequent (33%) Frequent (79-30%) HP:0001100
4 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
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 intellectual disability 31 HP:0001249
14 nystagmus 31 HP:0000639
15 hearing impairment 58 Very frequent (99-80%)
16 global developmental delay 31 HP:0001263
17 hypertonia 31 HP:0001276
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 vascular dilatation 31 HP:0002617
31 dilated vestibule of the inner ear 31 HP:0011379

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
bright blue eyes
retinal hypopigmentation
hypoplastic irides
hypopigmented irides
more
Skin Nails Hair Skin:
hypopigmented skin patches
cafe-au-lait spots
freckles

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

Chest External Features:
pectus excavatum

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 (Updated 05-Apr-2021)

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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 EDN3 EDNRB MITF PAX3 PMEL SNAI2
2 embryo MP:0005380 10.11 EDN3 EDNRB KITLG MITF PAX3 SNAI2
3 integument MP:0010771 10.11 EDN3 EDNRB KITLG MITF PAX3 PMEL
4 endocrine/exocrine gland MP:0005379 10.03 EDNRB KITLG MITF PAX3 SNAI2 SOX10
5 craniofacial MP:0005382 9.97 EDNRB KITLG MITF PAX3 SNAI2 TYR
6 digestive/alimentary MP:0005381 9.95 EDN3 EDNRB KITLG PAX3 SNAI2 SOX10
7 limbs/digits/tail MP:0005371 9.92 EDNRB KITLG MITF PAX3 SOX10 SOX8
8 pigmentation MP:0001186 9.9 EDN3 EDNRB KITLG MITF PAX3 PMEL
9 hearing/vestibular/ear MP:0005377 9.88 EDNRB KITLG MITF PAX3 TFEB TYR
10 neoplasm MP:0002006 9.65 EDNRB KITLG PAX3 SOX10 TYR
11 skeleton MP:0005390 9.61 EDNRB KITLG MITF PAX3 SNAI2 SOX8
12 vision/eye MP:0005391 9.28 EDNRB KITLG MITF PAX3 PMEL SNAI2

Drugs & Therapeutics for Waardenburg Syndrome, Type 2e

Search Clinical Trials , 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, Kidney, Bone, Brain, Skin

Publications for Waardenburg Syndrome, Type 2e

Articles related to Waardenburg Syndrome, Type 2e:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. 57 6
23643381 2013
2
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. 57 6
19208381 2009
3
SOX10 mutation in Waardenburg syndrome type II. 57 6
18627047 2008
4
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. 6 57
18348267 2008
5
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 6 57
17999358 2007
6
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 6 57
10441344 1999
7
Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome. 57 6
8911608 1996
8
Hearing loss in Waardenburg syndrome: a systematic review. 57
26100139 2016
9
Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations. 57
23237859 2013
10
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
11
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. 6
20478267 2010
12
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. 57
12189494 2002
13
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. 6
10077527 1999
14
Waardenburg syndrome. 57
9279758 1997
15
Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism? 61
33438357 2021
16
A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene. 61
33045145 2020
17
Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2. 61
33251892 2020
18
[Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss]. 61
31030437 2019
19
Teaching NeuroImages: Waardenburg syndrome type 2. 61
30988093 2019
20
A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II. 61
30628718 2019
21
A homozygous MITF mutation leads to familial Waardenburg syndrome type 4. 61
30549420 2019
22
Waardenburg syndrome type 2. 61
30449927 2018
23
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
24
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations. 61
29531335 2018
25
Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome. 61
29630160 2018
26
Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation. 61
28504826 2017
27
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2. 61
28356565 2017
28
[Clinical and genetic investigation of families with Waardenburg syndrome type 2]. 61
29798271 2016
29
A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report. 61
27073475 2016
30
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. 61
26522471 2015
31
Waardenburg syndrome type 2: an orthodontic perspective. 61
26429191 2015
32
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. 61
23020089 2013
33
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2. 61
23098757 2012
34
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
35
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. 61
22848661 2012
36
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. 61
20485200 2010
37
Electrodiagnostic findings in a patient with Waardenburg syndrome. 61
19730023 2009
38
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 61
18424413 2008
39
Neuroendocrine functions of melanocytes: beyond the skin-deep melanin maker. 61
17347546 2007
40
SLUG (SNAI2) overexpression in embryonic development. 61
16717446 2006
41
Waardenburg syndrome type 2 in an African patient. 61
16394488 2005
42
[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2]. 61
16324295 2005
43
SLUG in cancer development. 61
15735690 2005
44
Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform. 61
15715979 2005
45
Three cases of Waardenburg syndrome type 2 in a Korean family. 61
15635834 2004
46
Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. 61
14603070 2003
47
Microphthalmia-associated transcription factor in the Wnt signaling pathway. 61
12753399 2003
48
Clinical findings in Japanese patients with Waardenburg syndrome type 2. 61
12586183 2003
49
Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1. 61
12048204 2002
50
Cochlear melanocytes and MITF signaling. 61
11764294 2001

Variations for Waardenburg Syndrome, Type 2e

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

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2773C>G SNV Pathogenic 7397 rs74315515 GRCh37: 22:38379388-38379388
GRCh38: 22:37983381-37983381
2 POLR2F , SOX10 NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) SNV Pathogenic 7402 rs74315520 GRCh37: 22:38369774-38369774
GRCh38: 22:37973767-37973767
3 POLR2F , SOX10 NM_006941.3(SOX10):c.219_428+43del Deletion Pathogenic 7405 rs1555939381 GRCh37: 22:38379321-38379573
GRCh38: 22:37983314-37983566
4 POLR2F , SOX10 NM_006941.3(SOX10):c.429-1112_697+396del Deletion Pathogenic 7406 GRCh37: 22:38373478-38375254
GRCh38: 22:37977471-37979247
5 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-8094del Deletion Pathogenic 7407 rs397515369 GRCh37: 22:38374065-38374065
GRCh38: 22:37978058-37978058
6 POLR2F , SOX10 NM_006941.3(SOX10):c.698-2A>C SNV Pathogenic 7409 rs397515370 GRCh37: 22:38370207-38370207
GRCh38: 22:37974200-37974200
7 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-8111T>G SNV Pathogenic 7410 rs267607081 GRCh37: 22:38374050-38374050
GRCh38: 22:37978043-37978043
8 POLR2F , SOX10 NM_001301130.2(POLR2F):c.293+6984_293+6985del Microsatellite Pathogenic 30254 rs397515386 GRCh37: 22:38370159-38370160
GRCh38: 22:37974152-37974153
9 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2481del Deletion Pathogenic 30255 rs397515387 GRCh37: 22:38379679-38379679
GRCh38: 22:37983672-37983672
10 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2371A>C SNV Pathogenic 65483 rs397515457 GRCh37: 22:38379790-38379790
GRCh38: 22:37983783-37983783
11 POLR2F , SOX10 NM_006941.3(SOX10):c.1169C>G (p.Ser390Ter) SNV Pathogenic 545014 rs1569167607 GRCh37: 22:38369734-38369734
GRCh38: 22:37973727-37973727
12 POLR2F , SOX10 NM_006941.3(SOX10):c.487C>T (p.Gln163Ter) SNV Pathogenic 599071 rs1569169289 GRCh37: 22:38374084-38374084
GRCh38: 22:37978077-37978077
13 POLR2F , SOX10 NM_006941.4(SOX10):c.426G>T (p.Trp142Cys) SNV Pathogenic 801016 rs1555939403 GRCh37: 22:38379366-38379366
GRCh38: 22:37983359-37983359
14 POLR2F , SOX10 NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) SNV Pathogenic 915452 GRCh37: 22:38374092-38374092
GRCh38: 22:37978085-37978085
15 POLR2F , SOX10 NM_006941.4(SOX10):c.1379del (p.Tyr460fs) Deletion Pathogenic 915460 GRCh37: 22:38369524-38369524
GRCh38: 22:37973517-37973517
16 POLR2F , SOX10 NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) SNV Pathogenic 505653 rs1555939408 GRCh37: 22:38379368-38379368
GRCh38: 22:37983361-37983361
17 POLR2F , SOX10 NM_006941.4(SOX10):c.428+1G>A SNV Pathogenic 995934 GRCh37: 22:38379363-38379363
GRCh38: 22:37983356-37983356
18 POLR2F , SOX10 NM_006941.4(SOX10):c.448A>T (p.Lys150Ter) SNV Pathogenic 995935 GRCh37: 22:38374123-38374123
GRCh38: 22:37978116-37978116
19 POLR2F , SOX10 NM_006941.4(SOX10):c.463G>T (p.Glu155Ter) SNV Pathogenic 995936 GRCh37: 22:38374108-38374108
GRCh38: 22:37978101-37978101
20 POLR2F , SOX10 NM_006941.4(SOX10):c.502del (p.His168fs) Deletion Pathogenic 995937 GRCh37: 22:38374069-38374069
GRCh38: 22:37978062-37978062
21 POLR2F , SOX10 NM_006941.3(SOX10):c.523C>T (p.Pro175Ser) SNV Pathogenic 521356 rs1555938395 GRCh37: 22:38374048-38374048
GRCh38: 22:37978041-37978041
22 POLR2F , SOX10 NM_006941.4(SOX10):c.776_780del (p.Asp259fs) Deletion Pathogenic 995938 GRCh37: 22:38370123-38370127
GRCh38: 22:37974116-37974120
23 POLR2F , SOX10 NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter) SNV Pathogenic 995939 GRCh37: 22:38369840-38369840
GRCh38: 22:37973833-37973833
24 POLR2F , SOX10 NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter) SNV Pathogenic 995940 GRCh37: 22:38369708-38369708
GRCh38: 22:37973701-37973701
25 POLR2F , SOX10 NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) Duplication Pathogenic 805532 rs1601878540 GRCh37: 22:38369543-38369544
GRCh38: 22:37973536-37973537
26 overlap with 15 genes GRCh37/hg19 22q13.1(chr22:38155164-38541997) copy number loss Pathogenic 995941 GRCh37: 22:38155164-38541997
GRCh38:
27 POLR2F , SOX10 NM_006941.4(SOX10):c.7G>T (p.Glu3Ter) SNV Pathogenic 995928 GRCh37: 22:38379785-38379785
GRCh38: 22:37983778-37983778
28 POLR2F , SOX10 NM_006941.3(SOX10):c.127C>T (p.Arg43Ter) SNV Pathogenic 547774 rs1555939523 GRCh37: 22:38379665-38379665
GRCh38: 22:37983658-37983658
29 POLR2F , SOX10 NM_006941.3(SOX10):c.232C>T (p.Gln78Ter) SNV Pathogenic 523884 rs1555939491 GRCh37: 22:38379560-38379560
GRCh38: 22:37983553-37983553
30 POLR2F , SOX10 NM_006941.4(SOX10):c.323T>C (p.Met108Thr) SNV Pathogenic 995929 GRCh37: 22:38379469-38379469
GRCh38: 22:37983462-37983462
31 POLR2F , SOX10 NM_006941.4(SOX10):c.326A>G (p.Asn109Ser) SNV Pathogenic 995930 GRCh37: 22:38379466-38379466
GRCh38: 22:37983459-37983459
32 POLR2F , SOX10 NM_006941.4(SOX10):c.341G>A (p.Trp114Ter) SNV Pathogenic 995932 GRCh37: 22:38379451-38379451
GRCh38: 22:37983444-37983444
33 POLR2F , SOX10 NM_006941.4(SOX10):c.386T>C (p.Leu129Pro) SNV Likely pathogenic 995933 GRCh37: 22:38379406-38379406
GRCh38: 22:37983399-37983399
34 POLR2F , SOX10 NM_006941.4(SOX10):c.428+2T>C SNV Likely pathogenic 635541 rs1601886662 GRCh37: 22:38379362-38379362
GRCh38: 22:37983355-37983355
35 POLR2F , SOX10 NM_006941.4(SOX10):c.335T>G (p.Met112Arg) SNV Likely pathogenic 995931 GRCh37: 22:38379457-38379457
GRCh38: 22:37983450-37983450
36 POLR2F , SOX10 NM_006941.4(SOX10):c.403A>G (p.Ser135Gly) SNV Likely pathogenic 692195 rs1555939415 GRCh37: 22:38379389-38379389
GRCh38: 22:37983382-37983382
37 MITF NM_001354604.2(MITF):c.355-1062G>C SNV Likely pathogenic 545639 rs1236436555 GRCh37: 3:69985911-69985911
GRCh38: 3:69936760-69936760
38 POLR2F , SOX10 NM_006941.3(SOX10):c.316C>G (p.Arg106Gly) SNV Likely pathogenic 374266 rs1057518656 GRCh37: 22:38379476-38379476
GRCh38: 22:37983469-37983469
39 POLR2F , SOX10 NM_006941.4(SOX10):c.482G>A (p.Arg161His) SNV Conflicting interpretations of pathogenicity 873468 GRCh37: 22:38374089-38374089
GRCh38: 22:37978082-37978082
40 POLR2F , SOX10 NM_006941.4(SOX10):c.644G>A (p.Arg215Gln) SNV Uncertain significance 986733 rs779933527 GRCh37: 22:38373927-38373927
GRCh38: 22:37977920-37977920
41 POLR2F , SOX10 NM_006941.3(SOX10):c.334A>G (p.Met112Val) SNV Uncertain significance 547778 rs1555939439 GRCh37: 22:38379458-38379458
GRCh38: 22:37983451-37983451
42 POLR2F , SOX10 NM_006941.3(SOX10):c.415G>T (p.Gly139Cys) SNV Uncertain significance 545013 rs1569171143 GRCh37: 22:38379377-38379377
GRCh38: 22:37983370-37983370

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

72
# 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 chromatin GO:0000785 9.17 TFEC TFEB SOX8 SOX10 SNAI2 PAX3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.05 TFEC TFEB SOX8 SOX10 PAX3 MITF
2 regulation of transcription, DNA-templated GO:0006355 10.02 TFEC TFEB SOX8 SOX10 SNAI2 PAX3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.99 TFEC TFEB SOX8 SOX10 PAX3 MITF
4 positive regulation of transcription, DNA-templated GO:0045893 9.93 TFEB SOX8 SOX10 PAX3 MITF
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 TFEC SOX8 SOX10 SNAI2 MITF EDNRB
6 negative regulation of apoptotic process GO:0043066 9.89 SOX8 SOX10 MITF KITLG EDNRB
7 cell maturation GO:0048469 9.59 SOX8 SOX10
8 oligodendrocyte differentiation GO:0048709 9.58 SOX8 SOX10
9 neural crest cell development GO:0014032 9.57 SOX8 SNAI2
10 morphogenesis of an epithelium GO:0002009 9.56 SOX8 SOX10
11 vasoconstriction GO:0042310 9.55 EDNRB EDN3
12 melanin biosynthetic process GO:0042438 9.52 TYR PMEL
13 peripheral nervous system development GO:0007422 9.5 SOX8 SOX10 EDNRB
14 pigmentation GO:0043473 9.46 TYR SNAI2 MITF EDNRB
15 morphogenesis of a branching epithelium GO:0061138 9.43 SOX8 SOX10
16 enteric nervous system development GO:0048484 9.43 SOX8 SOX10 EDNRB
17 vein smooth muscle contraction GO:0014826 9.4 EDNRB EDN3
18 positive regulation of gliogenesis GO:0014015 9.37 SOX8 SOX10
19 melanocyte differentiation GO:0030318 9.26 SOX10 MITF EDNRB EDN3
20 neural crest cell migration GO:0001755 9.02 SOX8 SOX10 KITLG 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 GO:0003677 9.86 TFEC TFEB SOX8 SOX10 SNAI2 POLR2F
2 DNA-binding transcription factor activity GO:0003700 9.72 TFEB SOX8 SOX10 PAX3 MITF
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 TFEC TFEB SOX8 SOX10 SNAI2 PAX3
4 protein dimerization activity GO:0046983 9.54 TFEC TFEB MITF
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 TFEC TFEB SOX8 SOX10 SNAI2 PAX3
6 sequence-specific double-stranded DNA binding GO:1990837 9.1 TFEC TFEB SOX8 SOX10 SNAI2 PAX3

Sources for Waardenburg Syndrome, Type 2e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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