WS4A
MCID: WRD020
MIFTS: 49

Waardenburg Syndrome, Type 4a (WS4A)

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

Aliases & Classifications for Waardenburg Syndrome, Type 4a

MalaCards integrated aliases for Waardenburg Syndrome, Type 4a:

Name: Waardenburg Syndrome, Type 4a 57 13 70
Waardenburg Syndrome Type 4a 12 29 6 15
Shah-Waardenburg Syndrome 57 58 72 54
Waardenburg-Shah Syndrome 57 58 72
Ws4a 57 12 72
Waardenburg Syndrome with Hirschsprung Disease Type 4a 12 72
Waardenburg Syndrome Type Iva 12 72
Ws4 57 58
Waardenburg Syndrome with Hirschsprung Disease, Type 4a 57
Hirschsprung Disease with Pigmentary Anomaly 72
Waardenburg-Hirschsprung Syndrome 58
Waardenburg Syndrome, Type Iva 57
Syndrome, Waardenburg, Type 4a 39
Waardenburg Syndrome Type 4 58
Waardenburg Syndrome 4a 72

Characteristics:

Orphanet epidemiological data:

58
waardenburg-shah syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity
variable severity, intrafamilial
incomplete penetance of some features
both homozygous and heterozygous ednrb mutations have been found


HPO:

31

Classifications:

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


Summaries for Waardenburg Syndrome, Type 4a

OMIM® : 57 Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (131244). (277580) (Updated 20-May-2021)

MalaCards based summary : Waardenburg Syndrome, Type 4a, also known as waardenburg syndrome type 4a, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome type 4. An important gene associated with Waardenburg Syndrome, Type 4a is EDNRB (Endothelin Receptor Type B), and among its related pathways/superpathways are Neural Crest Differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include eye and skin, and related phenotypes are constipation and hearing impairment

Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has material basis in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.

UniProtKB/Swiss-Prot : 72 Waardenburg syndrome 4A: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).

Related Diseases for Waardenburg Syndrome, Type 4a

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 4a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 31.9 SOX10 POLR2F PAX3 MPZ MITF GJB1
2 waardenburg syndrome type 4 31.8 SOX10 POLR2F MITF EDNRB-AS1 EDNRB EDN3
3 waardenburg syndrome, type 4c 31.8 SOX10 POLR2F PAX3 MITF EDNRB EDN3
4 waardenburg syndrome, type 2b 31.7 SOX10 MITF EDN3
5 waardenburg syndrome, type 2c 31.6 SOX10 MITF EDNRB EDN3
6 waardenburg syndrome, type 2d 30.6 SOX10 SNAI2 PAX3 MITF EDNRB CDH7
7 intestinal obstruction 30.5 RET EDNRB EDN3
8 sensorineural hearing loss 30.1 SOX10 RET PAX3 MITF GJB1 EDN3
9 waardenburg's syndrome 29.9 TYR SOX10 SNAI2 RET POLR2F PAX3
10 waardenburg syndrome, type 4b 29.9 UPF1 TYR SOX10 SNAI2 PAX3 PABPC1
11 megacolon 29.7 SOX10 RET PAX3 EDNRB EDN3 ECE1
12 waardenburg syndrome, type 2e 29.3 TYR SOX10 SNAI2 POLR2F PAX3 MITF
13 waardenburg syndrome, type 1 29.1 TYR SOX10 SNAI2 PAX3 MITF EDNRB
14 hirschsprung disease 1 29.0 SOX10 SNAI2 RET POLR2F PAX3 MITF
15 branchiootic syndrome 1 10.4
16 aganglionosis, total intestinal 10.4 EDNRB-AS1 EDNRB
17 mitochondrial dna depletion syndrome 12a 10.4 EDNRB-AS1 EDNRB
18 catatrichy 10.3
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
20 hirschsprung disease 2 10.3 EDNRB-AS1 EDNRB
21 gallbladder melanoma 10.3 SOX10 MITF
22 malignant choroid melanoma 10.3 SOX10 MITF
23 crest syndrome 10.3 SOX10 EDNRB-AS1 EDNRB
24 constipation 10.3
25 melanoma, cutaneous malignant 8 10.2 TYR MITF
26 epithelioid cell melanoma 10.2 TYR MITF
27 goldberg-shprintzen syndrome 10.2 RET EDNRB EDN3
28 ochronosis 10.2 TYR MITF
29 charcot-marie-tooth disease, dominant intermediate a 10.2 MPZ GJB1
30 slowed nerve conduction velocity, autosomal dominant 10.2 MPZ GJB1
31 charcot-marie-tooth disease, x-linked recessive, 2 10.2 MPZ GJB1
32 charcot-marie-tooth disease, axonal, type 2w 10.2 MPZ GJB1
33 orbit rhabdomyosarcoma 10.2 TYR PAX3
34 autoimmune peripheral neuropathy 10.2 MPZ GJB1
35 malignant spindle cell melanoma 10.2 TYR SOX10 MITF
36 charcot-marie-tooth disease, axonal, type 2i 10.2 MPZ GJB1
37 charcot-marie-tooth disease, demyelinating, type 1d 10.2 MPZ GJB1
38 melanoma in congenital melanocytic nevus 10.2 TYR SOX10 MITF
39 clear cell sarcoma 10.2 TYR SOX10 MITF
40 actinic keratosis 10.1 TYR SOX10 MITF
41 charcot-marie-tooth disease intermediate type 10.1 MPZ GJB1
42 neurofibroma 10.1 TYR SOX10 MITF
43 ocular albinism with congenital sensorineural deafness 10.1 TYR PAX3 MITF
44 nodular malignant melanoma 10.1 TYR MITF
45 albinism, ocular, with late-onset sensorineural deafness 10.1 TYR PAX3 MITF
46 charcot-marie-tooth disease type x 10.1 MPZ GJB1
47 hereditary neuropathies 10.1 MPZ GJB1
48 intestinal pseudo-obstruction 10.1 SOX10 RET EDNRB EDN3
49 charcot-marie-tooth disease, dominant intermediate c 10.1 MPZ GJB1
50 charcot-marie-tooth disease, type 4c 10.1 SOX10 MPZ GJB1

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 4a:



Diseases related to Waardenburg Syndrome, Type 4a

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4a

Human phenotypes related to Waardenburg Syndrome, Type 4a:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
3 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
4 aganglionic megacolon 58 31 hallmark (90%) Very frequent (99-80%) HP:0002251
5 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
6 intestinal obstruction 58 31 hallmark (90%) Very frequent (99-80%) HP:0005214
7 white forelock 58 31 hallmark (90%) Very frequent (99-80%) HP:0002211
8 white eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002226
9 white eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0002227
10 abnormal macular morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001103
11 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
12 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
13 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
14 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
15 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
16 olfactory lobe agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0001341
17 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
18 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
19 nystagmus 31 HP:0000639
20 ataxia 31 HP:0001251
21 global developmental delay 31 HP:0001263
22 sensorineural hearing impairment 31 HP:0000407
23 blue irides 31 HP:0000635
24 hypopigmentation of hair 58 Very frequent (99-80%)
25 abnormality of the eye 58 Very frequent (99-80%)
26 heterochromia iridis 31 HP:0001100
27 hypopigmented skin patches 31 HP:0001053
28 abnormality of the eyebrow 58 Very frequent (99-80%)
29 abnormality of the nose 58 Frequent (79-30%)
30 leukodystrophy 31 HP:0002415
31 spastic paraparesis 31 HP:0002313
32 polyneuropathy 31 HP:0001271
33 abnormal intestine morphology 58 Very frequent (99-80%)
34 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
heterochromia iridis
bright blue irides
bicolored irides

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

Abdomen Gastrointestinal:
hirschsprung disease
decreased myenteric and submucosal ganglia in the bowel

Skin Nails Hair Skin:
hypopigmented skin patches

Head And Neck Ears:
deafness, sensorineural

Clinical features from OMIM®:

277580 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 4a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 CDH7 EDN3 EDNRB GJB1 MITF MPZ
2 hematopoietic system MP:0005397 10.11 ECE1 EDNRB GJB1 MITF MPZ PAX3
3 embryo MP:0005380 10.1 ECE1 EDN3 EDNRB MITF PAX3 RET
4 immune system MP:0005387 10.06 ECE1 EDNRB GJB1 MITF MPZ PAX3
5 digestive/alimentary MP:0005381 10.03 ECE1 EDN3 EDNRB PAX3 RET SNAI2
6 craniofacial MP:0005382 10 ECE1 EDNRB MITF PAX3 SNAI2 TBX22
7 mortality/aging MP:0010768 9.97 ECE1 EDN3 EDNRB GJB1 MITF MPZ
8 integument MP:0010771 9.96 ECE1 EDN3 EDNRB MITF MPZ PAX3
9 nervous system MP:0003631 9.73 ECE1 EDN3 EDNRB GJB1 MITF MPZ
10 pigmentation MP:0001186 9.23 ECE1 EDN3 EDNRB MITF PAX3 SNAI2

Drugs & Therapeutics for Waardenburg Syndrome, Type 4a

Search Clinical Trials , NIH Clinical Center for Waardenburg Syndrome, Type 4a

Genetic Tests for Waardenburg Syndrome, Type 4a

Genetic tests related to Waardenburg Syndrome, Type 4a:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4a 29 EDNRB

Anatomical Context for Waardenburg Syndrome, Type 4a

MalaCards organs/tissues related to Waardenburg Syndrome, Type 4a:

40
Eye, Skin

Publications for Waardenburg Syndrome, Type 4a

Articles related to Waardenburg Syndrome, Type 4a:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). 54 57 6
8630502 1996
2
Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. 6 57
10528251 1999
3
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. 57 6
8634719 1995
4
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. 6 57
8001158 1994
5
Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus. 57 54
19764031 2009
6
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. 6 54
18348274 2008
7
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 6 54
17999358 2007
8
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. 57 54
11891690 2002
9
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? 54 6
11303518 2001
10
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 54 6
9462749 1998
11
Waardenburg syndrome. 54 57
9279758 1997
12
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 6 54
8630503 1996
13
Hearing loss in Waardenburg syndrome: a systematic review. 57
26100139 2016
14
Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV. 6
20583152 2010
15
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. 6
19764030 2009
16
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. 57
11773966 2002
17
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. 6
10077527 1999
18
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. 57
7562965 1995
19
Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. 57
8001160 1994
20
Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. 57
8418661 1993
21
Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. 57
2301458 1990
22
Genetic heterogeneity in Waardenburg's syndrome. 57
2738907 1989
23
Piebaldism-Waardenburg syndrome: histopathologic evidence for a neural crest syndrome. 57
3228147 1988
24
Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. 57
3631139 1987
25
Association of megacolon with a new dominant spotting gene (Dom) in the mouse. 57
6512238 1984
26
Waardenburg's syndrome associated with total aganglionosis. 57
6651333 1983
27
Waardenburg and Hirschsprung syndromes. 57
6842346 1983
28
Bilateral bicolored irides with Hirschsprung's disease. A neural crest syndrome. 57
6849656 1983
29
White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. 57
7264803 1981
30
Anal atresia and the Klein-Waardenburg syndrome. 57
7241550 1981
31
The association of Waardenburg syndrome and Hirschsprung megacolon. 57
484594 1979
32
Letter: Hirschsprung's disease and congenital deafness. 57
1121019 1975
33
Congenital deafness and Hirschsprung's disease. 57
4687269 1973
34
Association of megacolon with two recessive spotting genes in the mouse. 57
5917257 1966
35
A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4. 61
28128317 2017
36
Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development. 54
20206619 2010
37
Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient. 54
20130826 2010
38
A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle. 54
19132125 2009
39
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3. 54
17516928 2007
40
Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. 54
16650841 2006
41
Sumoylation of the SOX10 transcription factor regulates its transcriptional activity. 54
16494873 2006
42
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. 54
16504559 2006
43
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. 54
16330480 2006
44
Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease. 54
16237557 2005
45
Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease. 54
15843399 2005
46
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. 54
12447940 2002
47
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. 54
11734543 2001
48
Relationship between the type of RET/GDNF/NTN or SOX10 gene mutations and long-term results after surgery for total colonic aganglionosis with small bowel involvement. 54
11685702 2001
49
SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants. 54
11454798 2001
50
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. 54
11484199 2001

Variations for Waardenburg Syndrome, Type 4a

ClinVar genetic disease variations for Waardenburg Syndrome, Type 4a:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDN3 NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs) Indel Pathogenic 16643 rs1568823517 GRCh37: 20:57876674-57876675
GRCh38: 20:59301619-59301620
2 EDN3 NM_207034.3(EDN3):c.476G>T (p.Cys159Phe) SNV Pathogenic 16644 rs74315384 GRCh37: 20:57896182-57896182
GRCh38: 20:59321127-59321127
3 EDN3 NM_207034.3(EDN3):c.507C>A (p.Cys169Ter) SNV Pathogenic 16649 rs74315385 GRCh37: 20:57896213-57896213
GRCh38: 20:59321158-59321158
4 EDN3 NM_207034.3(EDN3):c.335A>G (p.His112Arg) SNV Pathogenic 16650 rs267606778 GRCh37: 20:57876747-57876747
GRCh38: 20:59301692-59301692
5 EDN3 NM_207034.3(EDN3):c.277C>G (p.Arg93Gly) SNV Pathogenic 16651 rs267606779 GRCh37: 20:57876689-57876689
GRCh38: 20:59301634-59301634
6 EDN3 NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) SNV Pathogenic 339123 rs745795470 GRCh37: 20:57876705-57876705
GRCh38: 20:59301650-59301650
7 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-8155C>A SNV Pathogenic 7393 rs74315514 GRCh37: 22:38374006-38374006
GRCh38: 22:37977999-37977999
8 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2618G>C SNV Pathogenic 7394 rs73415876 GRCh37: 22:38379543-38379543
GRCh38: 22:37983536-37983536
9 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-8073_294-8072insAGGAGC Insertion Pathogenic 7395 rs397515366 GRCh37: 22:38374088-38374089
GRCh38: 22:37978081-37978082
10 POLR2F , SOX10 NM_001301130.2(POLR2F):c.293+6651_293+6652del Microsatellite Pathogenic 7396 rs397515367 GRCh37: 22:38369825-38369826
GRCh38: 22:37973818-37973819
11 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-8211G>C SNV Pathogenic 7401 rs281797260 GRCh37: 22:38373950-38373950
GRCh38: 22:37977943-37977943
12 POLR2F , SOX10 NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) SNV Pathogenic 7402 rs74315520 GRCh37: 22:38369774-38369774
GRCh38: 22:37973767-37973767
13 POLR2F , SOX10 NM_006941.4(SOX10):c.698-740_1085delinsCCT Indel Pathogenic 7404 GRCh37: 22:38369818-38370945
GRCh38: 22:37973811-37974938
14 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-8060G>A SNV Pathogenic 7408 rs121909117 GRCh37: 22:38374101-38374101
GRCh38: 22:37978094-37978094
15 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) SNV Pathogenic 16633 rs104894387 GRCh37: 13:78475316-78475316
GRCh38: 13:77901181-77901181
16 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly) SNV Pathogenic 16634 rs104894388 GRCh37: 13:78477678-78477678
GRCh38: 13:77903543-77903543
17 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) SNV Pathogenic 16639 rs104894390 GRCh37: 13:78477335-78477335
GRCh38: 13:77903200-77903200
18 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.521del (p.Cys174fs) Deletion Pathogenic 547293 rs1458799604 GRCh37: 13:78477705-78477705
GRCh38: 13:77903570-77903570
19 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) SNV Pathogenic 16640 rs104894391 GRCh37: 13:78477491-78477491
GRCh38: 13:77903356-77903356
20 POLR2F , SOX10 NM_006941.3(SOX10):c.1090C>T (p.Gln364Ter) SNV Pathogenic 547785 rs1555937400 GRCh37: 22:38369813-38369813
GRCh38: 22:37973806-37973806
21 POLR2F , SOX10 NM_006941.3(SOX10):c.127C>T (p.Arg43Ter) SNV Pathogenic 547774 rs1555939523 GRCh37: 22:38379665-38379665
GRCh38: 22:37983658-37983658
22 overlap with 12 genes GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1 copy number loss Pathogenic 545010 GRCh37: 22:38201553-38379791
GRCh38: 22:37805546-37983784
23 POLR2F , SOX10 NM_006941.3(SOX10):c.429-1G>A SNV Pathogenic 590850 rs1569169328 GRCh37: 22:38374143-38374143
GRCh38: 22:37978136-37978136
24 POLR2F , SOX10 NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) Deletion Pathogenic 620636 rs1569167515 GRCh37: 22:38369574-38369588
GRCh38: 22:37973567-37973581
25 POLR2F , SOX10 NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) SNV Pathogenic 871833 GRCh37: 22:38379703-38379703
GRCh38: 22:37983696-37983696
26 POLR2F , SOX10 NM_006941.4(SOX10):c.570C>A (p.Cys190Ter) SNV Pathogenic 1065048 GRCh37: 22:38374001-38374001
GRCh38: 22:37977994-37977994
27 POLR2F , SOX10 NM_001301130.2(POLR2F):c.293+6519_293+6523del Deletion Pathogenic 518422 rs1569167586 GRCh37: 22:38369694-38369698
GRCh38: 22:37973687-37973691
28 EDNRB NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) SNV Pathogenic/Likely pathogenic 545012 rs768126403 GRCh37: 13:78492652-78492652
GRCh38: 13:77918517-77918517
29 POLR2F , SOX10 NM_006941.4(SOX10):c.979del (p.Ala327fs) Deletion Likely pathogenic 804231 GRCh37: 22:38369924-38369924
GRCh38: 22:37973917-37973917
30 POLR2F , SOX10 NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) SNV Likely pathogenic 816906 rs74315515 GRCh37: 22:38379388-38379388
GRCh38: 22:37983381-37983381
31 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.777del (p.Val260fs) Deletion Likely pathogenic 1064869 GRCh37: 13:78477315-78477315
GRCh38: 13:77903180-77903180
32 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2507del Deletion Likely pathogenic 422859 rs1064796049 GRCh37: 22:38379651-38379651
GRCh38: 22:37983644-37983644
33 POLR2F , SOX10 NM_001301130.2(POLR2F):c.293+6634dup Duplication Likely pathogenic 547786 rs1555937395 GRCh37: 22:38369807-38369808
GRCh38: 22:37973800-37973801
34 POLR2F , SOX10 NM_001301130.2(POLR2F):c.293+6619del Deletion Likely pathogenic 503991 rs1555937390 GRCh37: 22:38369796-38369796
GRCh38: 22:37973789-37973789
35 POLR2F , SOX10 NM_006941.3(SOX10):c.364C>G (p.Leu122Val) SNV Likely pathogenic 547779 rs1555939426 GRCh37: 22:38379428-38379428
GRCh38: 22:37983421-37983421
36 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2747dup Duplication Likely pathogenic 547780 rs1555939421 GRCh37: 22:38379411-38379412
GRCh38: 22:37983404-37983405
37 POLR2F , SOX10 NM_006941.3(SOX10):c.426G>C (p.Trp142Cys) SNV Likely pathogenic 547781 rs1555939403 GRCh37: 22:38379366-38379366
GRCh38: 22:37983359-37983359
38 POLR2F , SOX10 NM_006941.3(SOX10):c.452G>C (p.Arg151Pro) SNV Likely pathogenic 547782 rs1373797370 GRCh37: 22:38374119-38374119
GRCh38: 22:37978112-37978112
39 POLR2F , SOX10 NM_006941.3(SOX10):c.586G>T (p.Glu196Ter) SNV Likely pathogenic 547783 rs763210407 GRCh37: 22:38373985-38373985
GRCh38: 22:37977978-37977978
40 POLR2F , SOX10 NM_001301130.2(POLR2F):c.293+6792dup Duplication Likely pathogenic 547784 rs1555937463 GRCh37: 22:38369968-38369969
GRCh38: 22:37973961-37973962
41 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro) SNV Likely pathogenic 547294 rs1555290659 GRCh37: 13:78477676-78477676
GRCh38: 13:77903541-77903541
42 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2642_294-2623dup Duplication Likely pathogenic 547775 rs1555939476 GRCh37: 22:38379517-38379518
GRCh38: 22:37983510-37983511
43 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2669_294-2667delinsCC Indel Likely pathogenic 547776 rs1555939460 GRCh37: 22:38379492-38379494
GRCh38: 22:37983485-37983487
44 POLR2F , SOX10 NM_006941.3(SOX10):c.301A>T (p.Lys101Ter) SNV Likely pathogenic 547777 rs1555939459 GRCh37: 22:38379491-38379491
GRCh38: 22:37983484-37983484
45 POLR2F , SOX10 NM_001301130.2(POLR2F):c.294-2644_294-2640del Deletion Likely pathogenic 133303 rs483353057 GRCh37: 22:38379517-38379521
GRCh38: 22:37983510-37983514
46 EDN3 NM_207034.3(EDN3):c.334C>A (p.His112Asn) SNV Likely pathogenic 547292 rs977075341 GRCh37: 20:57876746-57876746
GRCh38: 20:59301691-59301691
47 EDN3 NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) SNV Likely pathogenic 545507 rs773779627 GRCh37: 20:57876744-57876744
GRCh38: 20:59301689-59301689
48 POLR2F , SOX10 NM_006941.3(SOX10):c.334A>G (p.Met112Val) SNV Uncertain significance 547778 rs1555939439 GRCh37: 22:38379458-38379458
GRCh38: 22:37983451-37983451
49 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val) SNV Uncertain significance 547950 rs1212186974 GRCh37: 13:78477301-78477301
GRCh38: 13:77903166-77903166
50 POLR2F , SOX10 NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) SNV Uncertain significance 229266 rs200683397 GRCh37: 22:38379581-38379581
GRCh38: 22:37983574-37983574

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 4a:

72
# Symbol AA change Variation ID SNP ID
1 EDNRB p.Ala183Gly VAR_003470 rs104894388
2 EDNRB p.Phe292Leu VAR_015294

Expression for Waardenburg Syndrome, Type 4a

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 4a.

Pathways for Waardenburg Syndrome, Type 4a

Pathways related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.18 SOX10 SNAI2 PAX3 MPZ MITF GJB1
2 10.74 SOX10 PAX3 MITF

GO Terms for Waardenburg Syndrome, Type 4a

Biological processes related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.98 TBX22 SNAI2 RET PAX3 MITF EDN3
2 regulation of vasoconstriction GO:0019229 9.49 EDN3 ECE1
3 response to pain GO:0048265 9.48 RET EDNRB
4 vasoconstriction GO:0042310 9.46 EDNRB EDN3
5 neural crest cell migration GO:0001755 9.46 SOX10 RET EDNRB EDN3
6 enteric nervous system development GO:0048484 9.43 SOX10 RET EDNRB
7 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.4 EDN3 ECE1
8 vein smooth muscle contraction GO:0014826 9.37 EDNRB EDN3
9 posterior midgut development GO:0007497 9.32 RET EDNRB
10 pigmentation GO:0043473 9.26 TYR SNAI2 MITF EDNRB
11 melanocyte differentiation GO:0030318 8.92 SOX10 MITF EDNRB EDN3

Sources for Waardenburg Syndrome, Type 4a

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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