MCID: WRD001
MIFTS: 58

Waardenburg's Syndrome

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

Aliases & Classifications for Waardenburg's Syndrome

MalaCards integrated aliases for Waardenburg's Syndrome:

Name: Waardenburg's Syndrome 12 25 15
Waardenburg Syndrome 12 76 53 25 59 37 29 6 44 73
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 53 73
Van Der Hoeve Halbertsona Waardenburg Syndrome 12
Waardenburg, Types I and/or Ii 12
Waardenburg Syndrome, Type 4a 73
Waardenburg Shah Syndrome 12
Waardenburgs Syndrome 55
Mende Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
waardenburg syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:9258
MeSH 44 D014849
SNOMED-CT 68 47434006
Orphanet 59 ORPHA3440
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 74 C0043008 C3266898
MESH via Orphanet 45 D014849
KEGG 37 H00759

Summaries for Waardenburg's Syndrome

NIH Rare Diseases : 53 Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenitalsensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.

MalaCards based summary : Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome, type 1 and waardenburg syndrome, type 2e. An important gene associated with Waardenburg's Syndrome is PAX3 (Paired Box 3), and among its related pathways/superpathways are Melanogenesis and Adherens junction. Affiliated tissues include skin, eye and uterus, and related phenotypes are abnormality of the uterus and abnormality of the vagina

Disease Ontology : 12 An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.

Genetics Home Reference : 25 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

Wikipedia : 76 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

Related Diseases for Waardenburg's Syndrome

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's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 1 34.6 EDN3 MITF PAX3 SOX10
2 waardenburg syndrome, type 2e 33.9 EDNRB KITLG MITF SNAI2 SOX10
3 waardenburg syndrome type 4 33.5 EDN3 EDNRB MITF SOX10
4 waardenburg syndrome, type 4a 33.2 EDN3 EDNRB MITF RET SOX10
5 microphthalmia 28.7 KIT MITF PAX3 PAX6 TFE3 TYR
6 waardenburg syndrome, type 3 12.5
7 mend syndrome 12.4
8 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 11.9
9 waardenburg syndrome, type 4b 11.5
10 waardenburg syndrome, type 4c 11.5
11 albinism, ocular, with sensorineural deafness 10.8 MITF TYR
12 pigmented basal cell carcinoma 10.8 MITF TYR
13 hermansky-pudlak syndrome 1 10.7 PAX3 SOX10 TYR
14 craniofacial-deafness-hand syndrome 10.6 KIR2DS4 PAX3
15 goldberg-shprintzen syndrome 10.6 EDN3 EDNRB RET
16 intestinal pseudo-obstruction 10.6 EDNRB RET SOX10
17 cutaneous ganglioneuroma 10.6 KIT MITF
18 hermansky-pudlak syndrome 3 10.6 MITF TYR TYRP1
19 intestinal obstruction 10.6 EDN3 EDNRB RET
20 ocular albinism 10.6 MITF TYR TYRP1
21 central hypoventilation syndrome, congenital 10.6 EDN3 EDNRB RET
22 mutism 10.5 GJB2 MITF
23 epithelioid cell melanoma 10.5 MITF TYR
24 albinism 10.5 MITF TYR TYRP1
25 angiomyolipoma 10.5 KIT MITF TYR
26 melanoma, uveal 10.5 EDNRB MITF TYR
27 pseudopapilledema 10.5 PAX6 RET
28 colonic disease 10.4 EDN3 EDNRB RET SOX10
29 megacolon 10.4 EDN3 EDNRB RET SOX10
30 integumentary system cancer 10.4 KIT MITF TYR
31 aniridia 1 10.4 KIR2DS4 PAX3 PAX6
32 amelanotic melanoma 10.4 KIT TYR TYRP1
33 childhood kidney cell carcinoma 10.4 MITF PAX3 TFE3
34 clear cell papillary renal cell carcinoma 10.4 MITF TFE3
35 cell type cancer 10.4 KIT MITF TYR
36 waardenburg syndrome, type 2a 10.4 EDNRB MITF TFE3
37 tietz albinism-deafness syndrome 10.3 EDN3 MITF PAX3 SOX10 TYR
38 malignant spindle cell melanoma 10.3 KIT MITF SOX10 TYR
39 breast angiosarcoma 10.3 KIT MITF SOX10 TYR
40 indolent systemic mastocytosis 10.2 KIT KITLG
41 mast cell disease 10.2 KIT KITLG MITF
42 constipation 10.2 EDN3 EDNRB KIT RET
43 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 KITLG MITF TYR TYRP1
44 cochlear disease 10.1 EDN3 EDNRB MITF PAX3 SNAI2 SOX10
45 muscle cancer 10.1 KIT PAX3 TFE3
46 neurofibroma 10.1 KIT KITLG MITF SOX10
47 renal cell carcinoma, papillary, 1 10.0 KIT MITF TFE3
48 hirschsprung disease 1 10.0 EDN3 EDNRB MITF PAX3 RET SOX10
49 skin melanoma 10.0 KIT MITF TYR
50 dyschromatosis symmetrica hereditaria 10.0 EDN3 MITF PAX3 SOX10 TYR TYRP1

Graphical network of the top 20 diseases related to Waardenburg's Syndrome:



Diseases related to Waardenburg's Syndrome

Symptoms & Phenotypes for Waardenburg's Syndrome

Human phenotypes related to Waardenburg's Syndrome:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000130
2 abnormality of the vagina 59 32 occasional (7.5%) Occasional (29-5%) HP:0000142
3 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
4 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
5 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
6 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
7 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
8 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
9 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
10 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
11 lacrimation abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000632
12 synophrys 59 32 hallmark (90%) Very frequent (99-80%) HP:0000664
13 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
14 heterochromia iridis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001100
15 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
16 white forelock 59 32 frequent (33%) Frequent (79-30%) HP:0002211
17 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
18 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
19 myelomeningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002475
20 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
21 aplasia/hypoplasia of the colon 59 32 occasional (7.5%) Occasional (29-5%) HP:0100811
22 abnormality of the mouth 59 Frequent (79-30%)
23 abnormality of the lip 59 Frequent (79-30%)
24 abnormality of the face 59 Frequent (79-30%)
25 hearing impairment 59 Very frequent (99-80%)
26 abnormality of the eye 59 Frequent (79-30%)
27 abnormality of the eyebrow 59 Frequent (79-30%)
28 abnormality of skin pigmentation 59 Very frequent (99-80%)
29 hypopigmentation of hair 59 Very frequent (99-80%)
30 abnormality of the gastrointestinal tract 59 Occasional (29-5%)
31 abnormal lip morphology 32 frequent (33%) HP:0000159

MGI Mouse Phenotypes related to Waardenburg's Syndrome:

46 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.47 COL6A3 FN1 EDNRB ALPI PAX6 PAX3
2 cellular MP:0005384 10.42 COL6A3 FN1 EDNRB PAX3 MITF PAX6
3 embryo MP:0005380 10.4 FN1 EDN3 EDNRB GJB2 PAX3 MITF
4 craniofacial MP:0005382 10.38 FN1 EDNRB GJB2 PAX3 MITF PAX6
5 homeostasis/metabolism MP:0005376 10.38 FN1 EDNRB ALPI PAX3 MITF PAX6
6 behavior/neurological MP:0005386 10.36 EDNRB EDN3 MITF PAX3 RET PAX6
7 integument MP:0010771 10.36 FN1 EDN3 EDNRB GJB2 PAX3 MITF
8 mortality/aging MP:0010768 10.35 EDN3 FN1 EDNRB PAX3 MITF SOX10
9 cardiovascular system MP:0005385 10.31 EDNRB FN1 KITLG PAX3 PAX6 SNAI2
10 immune system MP:0005387 10.3 FN1 EDNRB PAX3 MITF PAX6 SNAI2
11 digestive/alimentary MP:0005381 10.29 EDN3 EDNRB ALPI PAX6 PAX3 SOX10
12 endocrine/exocrine gland MP:0005379 10.27 EDNRB PAX3 MITF PAX6 SNAI2 RET
13 hematopoietic system MP:0005397 10.25 EDNRB FN1 MITF KITLG PAX3 RET
14 nervous system MP:0003631 10.25 EDN3 FN1 EDNRB PAX6 PAX3 MITF
15 hearing/vestibular/ear MP:0005377 10.21 EDNRB PAX6 PAX3 MITF GJB2 KITLG
16 limbs/digits/tail MP:0005371 10.19 FN1 EDNRB PAX3 MITF RET SOX10
17 neoplasm MP:0002006 10.13 FN1 EDNRB PAX6 PAX3 RET SOX10
18 pigmentation MP:0001186 10.03 EDN3 EDNRB PAX3 MITF PAX6 SNAI2
19 normal MP:0002873 10.02 FN1 PAX3 MITF PAX6 RET KIT
20 muscle MP:0005369 10 EDNRB COL6A3 FN1 PAX3 RET PAX6
21 no phenotypic analysis MP:0003012 9.97 PAX3 MITF SEC23IP RET KIT GJB2
22 reproductive system MP:0005389 9.9 FN1 MITF SEC23IP PAX6 SNAI2 RET
23 skeleton MP:0005390 9.77 COL6A3 FN1 EDNRB PAX6 PAX3 MITF
24 vision/eye MP:0005391 9.4 EDNRB COL6A3 PAX6 PAX3 MITF SNAI2

Drugs & Therapeutics for Waardenburg's Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit Unknown status NCT02418936

Search NIH Clinical Center for Waardenburg's Syndrome

Cochrane evidence based reviews: waardenburg syndrome

Genetic Tests for Waardenburg's Syndrome

Genetic tests related to Waardenburg's Syndrome:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome 29

Anatomical Context for Waardenburg's Syndrome

MalaCards organs/tissues related to Waardenburg's Syndrome:

41
Skin, Eye, Uterus, Colon, Bone, Pituitary, Neutrophil

Publications for Waardenburg's Syndrome

Articles related to Waardenburg's Syndrome:

(show top 50) (show all 287)
# Title Authors Year
1
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. ( 29681101 )
2018
2
Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I. ( 29287868 )
2018
3
Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I. ( 29158168 )
2018
4
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. ( 29224756 )
2017
5
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. ( 28236341 )
2017
6
[Study of gene mutation and pathogenetic mechanism for a family with Waardenburg syndrome]. ( 28777840 )
2017
7
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis. ( 28390600 )
2017
8
A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4. ( 28128317 )
2017
9
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017
10
Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II. ( 28893539 )
2017
11
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis. ( 29094203 )
2017
12
Neural tube defects in Waardenburg syndrome: A case report and review of the literature. ( 28686331 )
2017
13
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects. ( 28043919 )
2016
14
[Mutation analysis of seven patients with Waardenburg syndrome]. ( 27264810 )
2016
15
A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family. ( 26824486 )
2016
16
Upregulation of Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of waardenburg syndrome type 4. ( 27585883 )
2016
17
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. ( 27966732 )
2016
18
Clinical and genetic investigation of families with type II Waardenburg syndrome. ( 26781036 )
2016
19
[Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation]. ( 27454999 )
2016
20
Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II. ( 26296878 )
2015
21
Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation. ( 25817900 )
2015
22
Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome. ( 26149688 )
2015
23
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. ( 26522471 )
2015
24
Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations. ( 26275939 )
2015
25
Case report: waardenburg syndrome. ( 25735036 )
2015
26
50 Years Ago in The Journal of Pediatrics: Waardenburg's Syndrome: The Risk of Recurrence of Congenital Deafness in a Kindred. ( 26319917 )
2015
27
Clinical manifestations of Waardenburg syndrome in a male adolescent in Mali, West Africa. ( 25224968 )
2015
28
[Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome]. ( 26663054 )
2015
29
Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome. ( 26512583 )
2015
30
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
31
A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. ( 26279250 )
2015
32
Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain. ( 24311220 )
2014
33
Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10. ( 24715709 )
2014
34
Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant? ( 25402868 )
2014
35
Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation. ( 25273316 )
2014
36
Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome. ( 25565054 )
2014
37
De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II. ( 24735604 )
2014
38
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. ( 23378733 )
2013
39
Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects. ( 22320238 )
2013
40
Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations. ( 23237859 )
2013
41
Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I. ( 23163891 )
2013
42
Anisometropic amblyopia in a case of type 2 Waardenburg syndrome. ( 24351514 )
2013
43
Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome. ( 23020089 )
2013
44
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II. ( 24194866 )
2013
45
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. ( 22848661 )
2012
46
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. ( 21965087 )
2012
47
Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy. ( 22876130 )
2012
48
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2. ( 23098757 )
2012
49
A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2. ( 22842075 )
2012
50
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. ( 22378281 )
2012

Variations for Waardenburg's Syndrome

ClinVar genetic disease variations for Waardenburg's Syndrome:

6
(show top 50) (show all 450)
# Gene Variation Type Significance SNP ID Assembly Location
1 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh37 Chromosome 13, 78492540: 78492540
2 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh38 Chromosome 13, 77918405: 77918405
3 PAX3 NM_181457.3(PAX3): c.129T> C (p.Gly43=) single nucleotide variant Benign rs12623857 GRCh37 Chromosome 2, 223161889: 223161889
4 PAX3 NM_181457.3(PAX3): c.129T> C (p.Gly43=) single nucleotide variant Benign rs12623857 GRCh38 Chromosome 2, 222297170: 222297170
5 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh37 Chromosome 2, 223085955: 223085955
6 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh38 Chromosome 2, 222221236: 222221236
7 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh37 Chromosome 13, 78492734: 78492734
8 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh38 Chromosome 13, 77918599: 77918599
9 PAX3 NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547del deletion Pathogenic GRCh37 Chromosome 2, 223158339: 223163411
10 PAX3 NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547del deletion Pathogenic GRCh38 Chromosome 2, 222293620: 222298692
11 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh38 Chromosome 2, 222202200: 222202200
12 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh37 Chromosome 2, 223066919: 223066919
13 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh38 Chromosome 2, 222220310: 222220310
14 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh37 Chromosome 2, 223085029: 223085029
15 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh37 Chromosome 2, 223086020: 223086020
16 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh38 Chromosome 2, 222221301: 222221301
17 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh38 Chromosome 2, 222221307: 222221307
18 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh37 Chromosome 2, 223086026: 223086026
19 PAX3 NM_181457.3(PAX3): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs876657717 GRCh38 Chromosome 2, 222232202: 222232202
20 PAX3 NM_181457.3(PAX3): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs876657717 GRCh37 Chromosome 2, 223096921: 223096921
21 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh37 Chromosome 2, 223161687: 223161687
22 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh38 Chromosome 2, 222296968: 222296968
23 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh37 Chromosome 2, 223161862: 223161862
24 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh38 Chromosome 2, 222297143: 222297143
25 MITF NM_198159.2(MITF): c.(?_355)-1203_*(78_?)del deletion Pathogenic GRCh38 Chromosome 3, 69936619: 69965326
26 MITF NM_198159.2(MITF): c.(?_355)-1203_*(78_?)del deletion Pathogenic GRCh37 Chromosome 3, 69985770: 70014477
27 MITF NM_198159.2(MITF): c.(?_938)-102_*(78_?)del deletion Pathogenic GRCh38 Chromosome 3, 69956353: 69965326
28 MITF NM_198159.2(MITF): c.(?_938)-102_*(78_?)del deletion Pathogenic GRCh37 Chromosome 3, 70005504: 70014477
29 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh37 Chromosome 3, 69986984: 69986984
30 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh38 Chromosome 3, 69937833: 69937833
31 MITF NM_000248.3(MITF): c.383C> G (p.Ser128Ter) single nucleotide variant Pathogenic rs876657700 GRCh38 Chromosome 3, 69941273: 69941273
32 MITF NM_000248.3(MITF): c.383C> G (p.Ser128Ter) single nucleotide variant Pathogenic rs876657700 GRCh37 Chromosome 3, 69990424: 69990424
33 MITF NM_000248.3(MITF): c.559+9C> G single nucleotide variant Benign/Likely benign rs181810413 GRCh37 Chromosome 3, 69998328: 69998328
34 MITF NM_000248.3(MITF): c.559+9C> G single nucleotide variant Benign/Likely benign rs181810413 GRCh38 Chromosome 3, 69949177: 69949177
35 MITF NM_000248.3(MITF): c.722G> A (p.Trp241Ter) single nucleotide variant Pathogenic rs876657698 GRCh37 Chromosome 3, 70008435: 70008435
36 MITF NM_000248.3(MITF): c.722G> A (p.Trp241Ter) single nucleotide variant Pathogenic rs876657698 GRCh38 Chromosome 3, 69959284: 69959284
37 MITF NM_000248.3(MITF): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs876657699 GRCh37 Chromosome 3, 70008521: 70008521
38 MITF NM_000248.3(MITF): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs876657699 GRCh38 Chromosome 3, 69959370: 69959370
39 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 GRCh37 Chromosome 3, 70014000: 70014000
40 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 GRCh38 Chromosome 3, 69964849: 69964849
41 MITF NM_000248.3(MITF): c.1245G> A (p.Thr415=) single nucleotide variant Benign/Likely benign rs36118030 GRCh37 Chromosome 3, 70014384: 70014384
42 MITF NM_000248.3(MITF): c.1245G> A (p.Thr415=) single nucleotide variant Benign/Likely benign rs36118030 GRCh38 Chromosome 3, 69965233: 69965233
43 EDNRB NM_000115.4(EDNRB): c.*1767C> T single nucleotide variant Benign/Likely benign rs3027092 GRCh38 Chromosome 13, 77896433: 77896433
44 EDNRB NM_000115.4(EDNRB): c.*1767C> T single nucleotide variant Benign/Likely benign rs3027092 GRCh37 Chromosome 13, 78470568: 78470568
45 EDNRB NM_000115.4(EDNRB): c.1285G> A (p.Gly429Arg) single nucleotide variant Uncertain significance rs144565124 GRCh38 Chromosome 13, 77898244: 77898244
46 EDNRB NM_000115.4(EDNRB): c.1285G> A (p.Gly429Arg) single nucleotide variant Uncertain significance rs144565124 GRCh37 Chromosome 13, 78472379: 78472379
47 EDNRB NM_000115.4(EDNRB): c.831A> G (p.Leu277=) single nucleotide variant Benign rs5351 GRCh38 Chromosome 13, 77901178: 77901178
48 EDNRB NM_000115.4(EDNRB): c.831A> G (p.Leu277=) single nucleotide variant Benign rs5351 GRCh37 Chromosome 13, 78475313: 78475313
49 EDNRB NM_000115.4(EDNRB): c.618G> A (p.Trp206Ter) single nucleotide variant Pathogenic rs876657688 GRCh37 Chromosome 13, 78477474: 78477474
50 EDNRB NM_000115.4(EDNRB): c.618G> A (p.Trp206Ter) single nucleotide variant Pathogenic rs876657688 GRCh38 Chromosome 13, 77903339: 77903339

Expression for Waardenburg's Syndrome

Search GEO for disease gene expression data for Waardenburg's Syndrome.

Pathways for Waardenburg's Syndrome

Pathways related to Waardenburg's Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Melanogenesis hsa04916
2 Adherens junction hsa04520
3 Calcium signaling pathway hsa04020
4 Neuroactive ligand-receptor interaction hsa04080

GO Terms for Waardenburg's Syndrome

Cellular components related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.96 TYR TYRP1
2 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 8.8 FN1 GJB2 SEC23IP

Biological processes related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.96 EDN3 EDNRB FN1 KIT KITLG
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 MITF PAX3 PAX6 RET SOX10 TFE3
3 negative regulation of apoptotic process GO:0043066 9.85 EDNRB KIT KITLG MITF RET SNAI2
4 positive regulation of gene expression GO:0010628 9.73 FN1 KIT MITF PAX6 RET SOX10
5 positive regulation of MAP kinase activity GO:0043406 9.67 EDN3 KIT KITLG
6 response to pain GO:0048265 9.59 EDNRB RET
7 vasoconstriction GO:0042310 9.58 EDN3 EDNRB
8 embryonic hemopoiesis GO:0035162 9.58 KIT KITLG
9 regulation of osteoclast differentiation GO:0045670 9.57 MITF TFE3
10 developmental pigmentation GO:0048066 9.55 EDNRB KIT
11 melanin biosynthetic process GO:0042438 9.54 TYR TYRP1
12 enteric nervous system development GO:0048484 9.51 EDNRB RET
13 ectopic germ cell programmed cell death GO:0035234 9.48 KIT KITLG
14 regulation of developmental pigmentation GO:0048070 9.46 EDN3 KIT
15 neural crest cell migration GO:0001755 9.46 EDN3 EDNRB KITLG RET
16 vein smooth muscle contraction GO:0014826 9.4 EDN3 EDNRB
17 melanocyte differentiation GO:0030318 9.35 EDN3 EDNRB KIT MITF TYRP1
18 posterior midgut development GO:0007497 9.32 EDNRB RET
19 pigmentation GO:0043473 9.1 EDNRB KIT MITF SNAI2 TYR TYRP1
20 multicellular organism development GO:0007275 10.07 EDN3 KIT MITF PAX3 PAX6 RET

Molecular functions related to Waardenburg's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 ALPI COL6A3 EDNRB FN1 KIR2DS4 KIT
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 KIT KITLG RET
3 HMG box domain binding GO:0071837 9.16 PAX3 PAX6
4 protease binding GO:0002020 9.13 ALPI FN1 KIT

Sources for Waardenburg's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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