MCID: WRD001
MIFTS: 60

Waardenburg's Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal 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 75 53 25 59 37 29 6 72
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 53 72
Van Der Hoeve Halbertsona Waardenburg Syndrome 12
Waardenburg, Types I and/or Ii 12
Waardenburg Syndrome, Type 4a 72
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
KEGG 37 H00759
MeSH 44 D014849
SNOMED-CT 68 47434006
MESH via Orphanet 45 D014849
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 73 C0043008 C3266898
Orphanet 59 ORPHA3440
UMLS 72 C0079661 C1847800 C1848519 more

Summaries for Waardenburg's Syndrome

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. There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.

MalaCards based summary : Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome type 4 and albinism, ocular, with late-onset sensorineural deafness. 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 colon, 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.

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 congenital sensorineural 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.

KEGG : 37
Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been classified based on the presence or absence of additional symptoms. WS 1 and WS 2 are distinguished by the presence or absence of dystopia canthorum, respectively. WS 3 is similar to WS 1 with additional musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, SOX10, MITF, EDNR, EDN3, and SNAIL2.

Wikipedia : 75 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 225)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome type 4 34.1 SOX10 MITF EDNRB EDN3
2 albinism, ocular, with late-onset sensorineural deafness 33.0 TYR SOX10 MITF
3 tietz albinism-deafness syndrome 32.9 TYR SOX10 PAX3 MITF
4 craniofacial-deafness-hand syndrome 32.9 PAX3 KIR2DS4
5 waardenburg syndrome, type 4a 32.6 SOX10 RET MITF EDNRB EDN3
6 waardenburg syndrome, type 3 32.5 SOX10 PAX3 MITF EDN3
7 waardenburg syndrome, type 1 32.5 TYR SOX10 SNAI2 PAX3 MITF FN1
8 waardenburg syndrome, type 4b 32.0 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
9 waardenburg syndrome, type 2e 31.9 SOX10 SNAI2 MITF KITLG EDNRB
10 albinism, ocular, with sensorineural deafness 31.1 TYR MITF
11 intestinal obstruction 31.0 RET EDNRB EDN3
12 albinism 30.9 TYRP1 TYR MITF
13 hirschsprung disease 1 30.8 SOX10 RET PAX3 MITF EDNRB EDN3
14 waardenburg syndrome, type 2a 30.8 TYRP1 TYR TFE3 SOX10 SNAI2 MITF
15 megacolon 30.8 SOX10 RET EDNRB EDN3
16 constipation 30.8 RET KIT EDNRB EDN3
17 vitiligo-associated multiple autoimmune disease susceptibility 6 30.6 TYRP1 TYR MITF
18 ocular albinism 30.5 TYRP1 TYR MITF
19 mutism 30.5 MITF GJB2
20 albinism, oculocutaneous, type ia 30.5 TYRP1 TYR PAX6
21 aniridia 1 30.4 PAX6 PAX3 KIR2DS4
22 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 30.1 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
23 vitiligo-associated multiple autoimmune disease susceptibility 1 30.1 TYRP1 TYR MITF KITLG
24 mastocytosis 30.0 MITF KITLG KIT
25 albinism, oculocutaneous, type ib 29.9 TYRP1 TYR
26 dowling-degos disease 1 29.7 TYRP1 TYR MITF KITLG KIT
27 piebald trait 29.5 TYR SNAI2 PAX3 MITF KITLG KIT
28 microphthalmia 29.2 TYRP1 TYR TFE3 PAX6 PAX3 MITF
29 mend syndrome 12.8
30 microphthalmia with limb anomalies 11.5
31 waardenburg syndrome, type 2b 11.2
32 waardenburg syndrome, type 2c 11.2
33 waardenburg syndrome, type 2d 11.2
34 waardenburg syndrome, type 4c 11.2
35 anophthalmos with limb anomalies 11.1
36 branchiootic syndrome 1 10.7
37 pigmented basal cell carcinoma 10.6 TYR MITF
38 hypomelanosis of ito 10.6 TYR MITF
39 hermansky-pudlak syndrome 1 10.5 TYR SOX10 PAX3
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
41 goldberg-shprintzen syndrome 10.5 RET EDNRB EDN3
42 sensorineural hearing loss 10.5
43 cutaneous ganglioneuroma 10.5 MITF KIT
44 intestinal pseudo-obstruction 10.5 SOX10 RET EDNRB
45 hermansky-pudlak syndrome 3 10.4 TYRP1 TYR MITF
46 central hypoventilation syndrome, congenital 10.4 RET EDNRB EDN3
47 albinism, oculocutaneous, type iii 10.4 TYRP1 TYR
48 catatrichy 10.4
49 epithelioid cell melanoma 10.4 TYR MITF
50 angiomyolipoma 10.4 TYR MITF KIT

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 abnormality of skin pigmentation 59 Very frequent (99-80%)
8 hypopigmented skin patches 59 Very frequent (99-80%)
9 intestinal obstruction 59 Occasional (29-5%)
10 prominent nasal bridge 59 Very frequent (99-80%)
11 underdeveloped nasal alae 59 Frequent (79-30%)
12 telecanthus 59 Frequent (79-30%)
13 abnormality of the eyebrow 59 Frequent (79-30%)
14 heterochromia iridis 59 Very frequent (99-80%)
15 premature graying of hair 59 Very frequent (99-80%)
16 aganglionic megacolon 59 Occasional (29-5%)
17 hypopigmentation of hair 59 Very frequent (99-80%)
18 abnormality of the face 59 Frequent (79-30%)
19 abnormality of the mouth 59 Frequent (79-30%)
20 lacrimation abnormality 59 Frequent (79-30%)
21 conductive hearing impairment 59 Very frequent (99-80%)
22 abnormality of the uterus 59 Occasional (29-5%)
23 abnormality of the lip 59 Frequent (79-30%)
24 white forelock 59 Frequent (79-30%)
25 abnormality of the vagina 59 Occasional (29-5%)
26 synophrys 59 Very frequent (99-80%)
27 abnormality of the gastrointestinal tract 59 Occasional (29-5%)
28 oral cleft 59 Occasional (29-5%)
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 Unknown status NCT02418936
2 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847

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
Skin, Eye, Colon, Bone, Uterus, Brain, Cerebellum

Publications for Waardenburg's Syndrome

Articles related to Waardenburg's Syndrome:

(show top 50) (show all 821)
# Title Authors PMID Year
1
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 9 38 71
12949970 2003
2
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome? 9 38 71
11683776 2001
3
Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. 9 38 71
9856573 1998
4
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. 9 38 71
8659547 1996
5
SLUG (SNAI2) deletions in patients with Waardenburg disease. 38 71
12444107 2002
6
Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. 38 71
10587587 2000
7
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 38 71
9158138 1997
8
The mutational spectrum in Waardenburg syndrome. 38 71
8589691 1995
9
Homozygosity for Waardenburg syndrome. 38 71
7726174 1995
10
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. 38 71
7874167 1994
11
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 38 71
8447316 1993
12
Autosomal dominant inheritance of Klein-Waardenburg syndrome. 38 71
1536170 1992
13
Upper limb involvement in the Klein-Waardenburg syndrome. 38 71
7091186 1982
14
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 38 71
666627 1978
15
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 71
27889061 2016
16
Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration. 9 38
18704124 2009
17
Structural basis for DNA recognition by the human PAX3 homeodomain. 9 38
19199574 2009
18
Pax genes in embryogenesis and oncogenesis. 9 38
18627422 2008
19
A novel MITF splice site mutation in a family with Waardenburg syndrome. 9 38
18595666 2008
20
SOX10 mutation in Waardenburg syndrome type II. 9 38
18627047 2008
21
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. 9 38
18397875 2008
22
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. 9 38
18348267 2008
23
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 9 38
18424413 2008
24
Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling. 9 38
19239084 2008
25
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. 9 38
17855451 2007
26
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 9 38
17999358 2007
27
[A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II]. 9 38
18229597 2007
28
Screening for novel PAX3 polymorphisms and risks of spina bifida. 9 38
17149730 2007
29
Transcriptional repression activity of PAX3 is modulated by competition between corepressor KAP1 and heterochromatin protein 1. 9 38
16945326 2006
30
A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. 9 38
16971891 2006
31
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. 9 38
16504559 2006
32
SLUG (SNAI2) overexpression in embryonic development. 9 38
16717446 2006
33
A genetic screen for mutations that affect cranial nerve development in the mouse. 9 38
16354937 2005
34
Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations. 9 38
16280008 2005
35
Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform. 9 38
15715979 2005
36
A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. 9 38
12944398 2003
37
Craniofacial-deafness-hand syndrome revisited. 9 38
14556253 2003
38
Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II. 9 38
12871913 2003
39
Microphthalmia-associated transcription factor in the Wnt signaling pathway. 9 38
12753399 2003
40
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. 9 38
12668617 2003
41
Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1. 9 38
12048204 2002
42
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. 9 38
11484199 2001
43
The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. 9 38
11478782 2001
44
A novel KIT mutation results in piebaldism with progressive depigmentation. 9 38
11174389 2001
45
Regulation of Pax3 transcriptional activity by SUMO-1-modified PML. 9 38
11244500 2001
46
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. 9 38
10938265 2000
47
MITF: a stream flowing for pigment cells. 9 38
10952390 2000
48
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. 9 38
10982026 2000
49
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. 9 38
10790403 2000
50
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. 9 38
10762540 2000

Variations for Waardenburg's Syndrome

ClinVar genetic disease variations for Waardenburg's Syndrome:

6 (show top 50) (show all 224)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PAX3 NM_181457.4(PAX3): c.879dup (p.Phe294fs) duplication Pathogenic rs1553572967 2:223086019-223086020 2:222221300-222221301
2 PAX3 NM_181457.4(PAX3): c.873dup (p.Gly292fs) duplication Pathogenic rs1553572976 2:223086025-223086026 2:222221306-222221307
3 MITF NM_000248.3(MITF): c.452_464dup (p.Asp156fs) duplication Pathogenic rs1553703619 3:69998212-69998224 3:69949061-69949073
4 SOX10 NM_006941.3(SOX10): c.426G> A (p.Trp142Ter) single nucleotide variant Pathogenic rs1555939403 22:38379366-38379366 22:37983359-37983359
5 PAX3 NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547del deletion Pathogenic 2:223158339-223163411 2:222293620-222298692
6 PAX3 NM_181457.4(PAX3): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs876657717 2:223096921-223096921 2:222232202-222232202
7 MITF NM_198159.2(MITF): c.(?_355)-1203_*(78_?)del deletion Pathogenic 3:69985770-70014477 3:69936619-69965326
8 MITF NM_198159.2(MITF): c.(?_938)-102_*(78_?)del deletion Pathogenic 3:70005504-70014477 3:69956353-69965326
9 MITF NM_000248.3(MITF): c.383C> G (p.Ser128Ter) single nucleotide variant Pathogenic rs876657700 3:69990424-69990424 3:69941273-69941273
10 MITF NM_000248.3(MITF): c.722G> A (p.Trp241Ter) single nucleotide variant Pathogenic rs876657698 3:70008435-70008435 3:69959284-69959284
11 MITF NM_000248.3(MITF): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs876657699 3:70008521-70008521 3:69959370-69959370
12 SOX10 NM_006941.3(SOX10): c.(?_698)_(1401_?)del (p.(?)) deletion Pathogenic 22:38369502-38370205 22:37973495-37974198
13 EDNRB NM_000115.5(EDNRB): c.618G> A (p.Trp206Ter) single nucleotide variant Pathogenic rs876657688 13:78477474-78477474 13:77903339-77903339
14 SOX10 NM_006941.3(SOX10): c.401T> C (p.Leu134Pro) single nucleotide variant Likely pathogenic rs876657660 22:38379391-38379391 22:37983384-37983384
15 MITF NM_000248.3(MITF): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs1057518765 3:69998233-69998233 3:69949082-69949082
16 SOX10 NM_006941.3(SOX10): c.424T> C (p.Trp142Arg) single nucleotide variant Likely pathogenic rs1555939408 22:38379368-38379368 22:37983361-37983361
17 EDNRB NM_000115.5(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1801710 13:78492540-78492540 13:77918405-77918405
18 SOX10 NM_006941.3(SOX10): c.753G> A (p.Ser251=) single nucleotide variant Conflicting interpretations of pathogenicity rs376907937 22:38370150-38370150 22:37974143-37974143
19 MITF NM_000248.3(MITF): c.861A> G (p.Glu287=) single nucleotide variant Conflicting interpretations of pathogenicity rs137904015 3:70014000-70014000 3:69964849-69964849
20 PAX3 NM_181457.4(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 2:223085955-223085955 2:222221236-222221236
21 EDNRB NM_000115.5(EDNRB): c.-26G> A single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 13:78492734-78492734 13:77918599-77918599
22 MITF NM_000248.3(MITF): c.959T> C (p.Val320Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs2055006 3:70014098-70014098 3:69964947-69964947
23 EDNRB NM_000115.5(EDNRB): c.1194+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs886050325 13:78473979-78473979 13:77899844-77899844
24 EDNRB NM_000115.5(EDNRB): c.*2355T> C single nucleotide variant Uncertain significance rs886050319 13:78469980-78469980 13:77895845-77895845
25 EDN3 NM_207034.3(EDN3): c.*96G> A single nucleotide variant Uncertain significance rs886056875 20:57899610-57899610 20:59324555-59324555
26 EDN3 NM_207034.3(EDN3): c.*145C> A single nucleotide variant Uncertain significance rs886056881 20:57899659-57899659 20:59324604-59324604
27 EDNRB NM_000115.5(EDNRB): c.*2064T> G single nucleotide variant Uncertain significance rs200431243 13:78470271-78470271 13:77896136-77896136
28 EDNRB NM_000115.5(EDNRB): c.*1906G> A single nucleotide variant Uncertain significance rs886050320 13:78470429-78470429 13:77896294-77896294
29 EDNRB NM_000115.5(EDNRB): c.777C> T (p.Pro259=) single nucleotide variant Uncertain significance rs375637651 13:78477315-78477315 13:77903180-77903180
30 EDNRB NM_000115.5(EDNRB): c.*2219A> G single nucleotide variant Uncertain significance rs200177379 13:78470116-78470116 13:77895981-77895981
31 EDNRB NM_000115.5(EDNRB): c.*1474G> A single nucleotide variant Uncertain significance rs886050322 13:78470861-78470861 13:77896726-77896726
32 EDNRB NM_000115.5(EDNRB): c.*918_*921del deletion Uncertain significance rs760796267 13:78471414-78471417 13:77897279-77897282
33 EDNRB NM_000115.5(EDNRB): c.*179G> A single nucleotide variant Uncertain significance rs201848931 13:78472156-78472156 13:77898021-77898021
34 EDNRB NM_000115.5(EDNRB): c.1139G> C (p.Cys380Ser) single nucleotide variant Uncertain significance rs200939685 13:78474049-78474049 13:77899914-77899914
35 EDN3 NM_207034.2(EDN3): c.-268G> C single nucleotide variant Uncertain significance rs868738564 20:57875600-57875600 20:59300545-59300545
36 EDN3 NM_207034.3(EDN3): c.-164G> A single nucleotide variant Uncertain significance rs749699689 20:57875704-57875704 20:59300649-59300649
37 EDN3 NM_207034.3(EDN3): c.-120C> T single nucleotide variant Uncertain significance rs886056872 20:57875748-57875748 20:59300693-59300693
38 EDN3 NM_207034.3(EDN3): c.543-7C> T single nucleotide variant Uncertain significance rs886056874 20:57897420-57897420 20:59322365-59322365
39 EDN3 NM_207034.3(EDN3): c.688C> T (p.Arg230Cys) single nucleotide variant Uncertain significance rs372958987 20:57899485-57899485 20:59324430-59324430
40 MITF NM_000248.3(MITF): c.938G> A (p.Arg313Gln) single nucleotide variant Uncertain significance rs201351378 3:70014077-70014077 3:69964926-69964926
41 MITF NM_000248.3(MITF): c.*421G> T single nucleotide variant Uncertain significance rs886058812 3:70014820-70014820 3:69965669-69965669
42 MITF NM_000248.3(MITF): c.*1933C> T single nucleotide variant Uncertain significance rs555688827 3:70016332-70016332 3:69967181-69967181
43 MITF NM_000248.3(MITF): c.*2077G> T single nucleotide variant Uncertain significance rs886058816 3:70016476-70016476 3:69967325-69967325
44 MITF NM_000248.3(MITF): c.323A> T (p.His108Leu) single nucleotide variant Uncertain significance rs761038653 3:69988310-69988310 3:69939159-69939159
45 MITF NM_000248.3(MITF): c.*286G> A single nucleotide variant Uncertain significance rs187361634 3:70014685-70014685 3:69965534-69965534
46 MITF NM_000248.3(MITF): c.*413_*416del deletion Uncertain significance rs886058810 3:70014812-70014815 3:69965661-69965664
47 MITF NM_000248.3(MITF): c.*415_*418AAGA[2] short repeat Uncertain significance rs886058811 3:70014822-70014825 3:69965671-69965674
48 MITF NM_000248.3(MITF): c.*574_*576dup duplication Uncertain significance rs59665466 3:70014973-70014975 3:69965822-69965824
49 MITF NM_000248.3(MITF): c.*1570C> T single nucleotide variant Uncertain significance rs528276006 3:70015969-70015969 3:69966818-69966818
50 EDNRB NM_000115.5(EDNRB): c.*1662T> C single nucleotide variant Uncertain significance rs202174312 13:78470673-78470673 13:77896538-77896538

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 TYRP1 TYR
2 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 8.8 SEC23IP GJB2 FN1

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 KITLG KIT FN1 EDNRB EDN3
2 positive regulation of transcription, DNA-templated GO:0045893 9.93 TFE3 SOX10 RET PAX6 PAX3 MITF
3 positive regulation of gene expression GO:0010628 9.85 SOX10 RET PAX6 MITF KIT FN1
4 negative regulation of apoptotic process GO:0043066 9.72 SOX10 SNAI2 MITF KITLG EDNRB
5 positive regulation of MAP kinase activity GO:0043406 9.7 KITLG KIT EDN3
6 response to pain GO:0048265 9.59 RET EDNRB
7 vasoconstriction GO:0042310 9.58 EDNRB EDN3
8 embryonic hemopoiesis GO:0035162 9.58 KITLG KIT
9 regulation of osteoclast differentiation GO:0045670 9.57 TFE3 MITF
10 melanin biosynthetic process GO:0042438 9.55 TYRP1 TYR
11 neural crest cell migration GO:0001755 9.55 SOX10 RET KITLG EDNRB EDN3
12 developmental pigmentation GO:0048066 9.54 KIT EDNRB
13 lacrimal gland development GO:0032808 9.49 SOX10 PAX6
14 ectopic germ cell programmed cell death GO:0035234 9.48 KITLG KIT
15 vein smooth muscle contraction GO:0014826 9.43 EDNRB EDN3
16 enteric nervous system development GO:0048484 9.43 SOX10 RET EDNRB
17 pigmentation GO:0043473 9.43 TYRP1 TYR SNAI2 MITF KIT EDNRB
18 posterior midgut development GO:0007497 9.4 RET EDNRB
19 regulation of developmental pigmentation GO:0048070 9.21 EDN3
20 melanocyte differentiation GO:0030318 9.1 TYRP1 SOX10 MITF KIT EDNRB EDN3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.43 SNAI2 PAX6 MITF
2 HMG box domain binding GO:0071837 9.16 PAX6 PAX3
3 protease binding GO:0002020 9.13 KIT FN1 ALPI
4 DNA-binding transcription factor activity GO:0003700 9.1 TFE3 SOX10 SNAI2 PAX6 PAX3 MITF
5 protein binding GO:0005515 10.22 TYRP1 TYR TFE3 SOX10 SNAI2 SEC23IP

Sources for Waardenburg's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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