MCID: WRD001
MIFTS: 58

Waardenburg's Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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 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 3 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 eye, skin and bone, and related phenotypes are ptosis and hearing impairment

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.

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 118)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 3 34.3 EDN3 MITF PAX3 SOX10
2 waardenburg syndrome, type 2e 34.1 EDNRB KITLG MITF SNAI2 SOX10
3 waardenburg syndrome, type 1 33.8 EDN3 EDNRB FN1 MITF PAX3 SNAI2
4 waardenburg syndrome, type 2a 33.3 EDN3 EDNRB GJB2 MITF SNAI2 SOX10
5 albinism, ocular, with sensorineural deafness 33.2 MITF TYR
6 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 33.2 EDN3 EDNRB MITF PAX3 SNAI2 SOX10
7 waardenburg syndrome type 4 33.2 EDN3 EDNRB MITF SOX10
8 waardenburg syndrome, type 4a 33.1 EDN3 EDNRB MITF RET SOX10
9 waardenburg syndrome, type 4b 32.6 EDN3 EDNRB MITF PAX3 SNAI2 SOX10
10 albinism, ocular, with late-onset sensorineural deafness 32.2 MITF SOX10 TYR
11 craniofacial-deafness-hand syndrome 31.8 KIR2DS4 PAX3
12 albinism, oculocutaneous, type ib 31.5 TYR TYRP1
13 piebald trait 31.3 KIT KITLG MITF PAX3 SNAI2 TYR
14 albinism 30.4 MITF TYR TYRP1
15 hirschsprung disease 1 30.3 EDN3 EDNRB MITF PAX3 RET SOX10
16 ocular albinism 30.2 MITF TYR TYRP1
17 megacolon 30.2 EDN3 EDNRB RET SOX10
18 constipation 30.0 EDN3 EDNRB KIT RET
19 tietz albinism-deafness syndrome 30.0 MITF PAX3 SOX10 TYR
20 microphthalmia 29.8 KIT MITF PAX3 PAX6 TFE3 TYR
21 mend syndrome 12.5
22 waardenburg syndrome, type 2d 12.5
23 waardenburg syndrome, type 2b 12.5
24 waardenburg syndrome, type 2c 12.4
25 waardenburg syndrome, type 4c 11.7
26 heterochromia iridis 11.3
27 microphthalmia with limb anomalies 11.0
28 anophthalmos with limb anomalies 11.0
29 pigmented basal cell carcinoma 10.2 MITF TYR
30 neural tube defects 10.2
31 hermansky-pudlak syndrome 1 10.2 PAX3 SOX10 TYR
32 hypomelanosis of ito 10.2 MITF TYR
33 goldberg-shprintzen syndrome 10.2 EDN3 EDNRB RET
34 cutaneous ganglioneuroma 10.2 KIT MITF
35 intestinal pseudo-obstruction 10.2 EDNRB RET SOX10
36 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2 MITF TYR TYRP1
37 intestinal obstruction 10.2 EDN3 EDNRB RET
38 hermansky-pudlak syndrome 3 10.2 MITF TYR TYRP1
39 albinism, oculocutaneous, type iii 10.2 TYR TYRP1
40 central hypoventilation syndrome, congenital 10.2 EDN3 EDNRB RET
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
42 aganglionosis, total intestinal 10.2
43 dermatitis 10.2
44 mutism 10.1 GJB2 MITF
45 epithelioid cell melanoma 10.1 MITF TYR
46 albinism, oculocutaneous, type ia 10.1 PAX6 TYR TYRP1
47 angiomyolipoma 10.1 KIT MITF TYR
48 colonic disease 10.1 EDN3 EDNRB RET SOX10
49 aniridia 1 10.1 KIR2DS4 PAX3 PAX6
50 childhood kidney cell carcinoma 10.1 MITF PAX3 TFE3

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 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 Occasional (29-5%)
2 hearing impairment 59 Very frequent (99-80%)
3 wide nasal bridge 59 Frequent (79-30%)
4 abnormal facial shape 59 Very frequent (99-80%)
5 abnormality of the eye 59 Frequent (79-30%)
6 abnormality of vision 59 Very frequent (99-80%)
7 hypopigmented skin patches 59 Very frequent (99-80%)
8 intestinal obstruction 59 Occasional (29-5%)
9 prominent nasal bridge 59 Very frequent (99-80%)
10 underdeveloped nasal alae 59 Frequent (79-30%)
11 telecanthus 59 Frequent (79-30%)
12 abnormality of the eyebrow 59 Frequent (79-30%)
13 heterochromia iridis 59 Very frequent (99-80%)
14 premature graying of hair 59 Very frequent (99-80%)
15 aganglionic megacolon 59 Occasional (29-5%)
16 hypopigmentation of hair 59 Very frequent (99-80%)
17 abnormality of the face 59 Frequent (79-30%)
18 abnormality of the mouth 59 Frequent (79-30%)
19 conductive hearing impairment 59 Very frequent (99-80%)
20 abnormality of the uterus 59 Occasional (29-5%)
21 lacrimation abnormality 59 Frequent (79-30%)
22 abnormality of skin pigmentation 59 Very frequent (99-80%)
23 white forelock 59 Frequent (79-30%)
24 abnormality of the vagina 59 Occasional (29-5%)
25 synophrys 59 Very frequent (99-80%)
26 abnormality of the gastrointestinal tract 59 Occasional (29-5%)
27 oral cleft 59 Occasional (29-5%)
28 abnormality of the lip 59 Frequent (79-30%)
29 myelomeningocele 59 Occasional (29-5%)
30 aplasia/hypoplasia of the colon 59 Occasional (29-5%)

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

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

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
Eye, Skin, Bone, Colon, Kidney, Heart, Skeletal Muscle

Publications for Waardenburg's Syndrome

Articles related to Waardenburg's Syndrome:

(show top 50) (show all 468)
# 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
A homozygous MITF mutation leads to familial Waardenburg syndrome type 4. ( 30549420 )
2018
5
First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene. ( 30173992 )
2018
6
Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1. ( 28502583 )
2018
7
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. ( 30314436 )
2018
8
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. ( 30117279 )
2018
9
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations. ( 29531335 )
2018
10
Waardenburg syndrome type 2. ( 30449927 )
2018
11
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. ( 29115496 )
2018
12
Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene. ( 29168219 )
2018
13
Waardenburg syndrome: Novel mutations in a large Brazilian sample. ( 29407415 )
2018
14
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. ( 29792164 )
2018
15
Waardenburg syndrome: A rare case. ( 29930451 )
2018
16
Rare Association of Waardenburg Syndrome with Minimal Change Disease. ( 29962674 )
2018
17
A rare case of seven siblings with Waardenburg syndrome: a case report. ( 29973257 )
2018
18
SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FINDINGS IN WAARDENBURG SYNDROME. ( 30024478 )
2018
19
Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum. ( 30069293 )
2018
20
A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients. ( 30234069 )
2018
21
Waardenburg syndrome: when the eyes speak the truth. ( 30373908 )
2018
22
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. ( 30394532 )
2018
23
Waardenburg Syndrome and Left Persistent Superior Vena Cava. ( 30546928 )
2018
24
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. ( 29224756 )
2017
25
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. ( 28236341 )
2017
26
[Study of gene mutation and pathogenetic mechanism for a family with Waardenburg syndrome]. ( 28777840 )
2017
27
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis. ( 28390600 )
2017
28
A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4. ( 28128317 )
2017
29
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017
30
Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II. ( 28893539 )
2017
31
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis. ( 29094203 )
2017
32
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. ( 28328136 )
2017
33
Neural tube defects in Waardenburg syndrome: A case report and review of the literature. ( 28686331 )
2017
34
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2. ( 28356565 )
2017
35
Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation. ( 28504826 )
2017
36
Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced in 11 Patients. ( 28414277 )
2017
37
Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation. ( 28544110 )
2017
38
A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred. ( 28690485 )
2017
39
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family. ( 28690861 )
2017
40
Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing. ( 29045167 )
2017
41
Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child. ( 29275389 )
2017
42
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects. ( 28043919 )
2016
43
[Mutation analysis of seven patients with Waardenburg syndrome]. ( 27264810 )
2016
44
A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family. ( 26824486 )
2016
45
Upregulation of Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of waardenburg syndrome type 4. ( 27585883 )
2016
46
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
47
Clinical and genetic investigation of families with type II Waardenburg syndrome. ( 26781036 )
2016
48
[Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation]. ( 27454999 )
2016
49
A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1. ( 27081571 )
2016
50
Multiple hyperpigmented patches in Waardenburg syndrome type 1: An unusual presentation. ( 27549871 )
2016

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 9.93 MITF PAX3 PAX6 RET SOX10 TFE3
3 negative regulation of apoptotic process GO:0043066 9.87 EDNRB KIT KITLG MITF RET SNAI2
4 positive regulation of gene expression GO:0010628 9.85 FN1 KIT MITF PAX6 RET SOX10
5 positive regulation of MAP kinase activity GO:0043406 9.7 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 melanin biosynthetic process GO:0042438 9.55 TYR TYRP1
11 neural crest cell migration GO:0001755 9.55 EDN3 EDNRB KITLG RET SOX10
12 developmental pigmentation GO:0048066 9.54 EDNRB KIT
13 ectopic germ cell programmed cell death GO:0035234 9.51 KIT KITLG
14 lacrimal gland development GO:0032808 9.49 PAX6 SOX10
15 regulation of developmental pigmentation GO:0048070 9.48 EDN3 KIT
16 vein smooth muscle contraction GO:0014826 9.43 EDN3 EDNRB
17 enteric nervous system development GO:0048484 9.43 EDNRB RET SOX10
18 pigmentation GO:0043473 9.43 EDNRB KIT MITF SNAI2 TYR TYRP1
19 posterior midgut development GO:0007497 9.4 EDNRB RET
20 melanocyte differentiation GO:0030318 9.1 EDN3 EDNRB KIT MITF SOX10 TYRP1

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 KIT KITLG RET
2 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.5 MITF PAX6 SNAI2
3 DNA-binding transcription factor activity GO:0003700 9.43 MITF PAX3 PAX6 SNAI2 SOX10 TFE3
4 protease binding GO:0002020 9.33 ALPI FN1 KIT
5 HMG box domain binding GO:0071837 9.26 PAX3 PAX6
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.8 MITF SNAI2 SOX10
7 protein binding GO:0005515 10.31 ALPI EDNRB FN1 KIR2DS4 KIT KITLG

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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