MCID: WRD001
MIFTS: 59

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 74 52 25 58 36 29 6 71
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 52 71
Van Der Hoeve Halbertsona Waardenburg Syndrome 12
Waardenburg, Types I and/or Ii 12
Waardenburg Syndrome, Type 4a 71
Waardenburg Shah Syndrome 12
Waardenburgs Syndrome 54
Mende Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
waardenburg syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

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


External Ids:

Disease Ontology 12 DOID:9258
KEGG 36 H00759
MeSH 43 D014849
SNOMED-CT 67 47434006
MESH via Orphanet 44 D014849
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C0043008 C3266898
Orphanet 58 ORPHA3440
UMLS 71 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 eye, skin and heart, 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 : 52 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 : 36 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 : 74 Waardenburg syndrome is a rare genetic condition characterised by at least some degree of congenital... 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 256)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome type 4 34.1 SOX10 MITF LOC107988030 EDNRB EDN3
2 albinism, ocular, with late-onset sensorineural deafness 33.6 TYR TFE3 SOX10 PAX3 MITF
3 waardenburg syndrome, type 1 33.4 SOX10 SNAI2 PAX3 MITF GJB2 EDNRB
4 craniofacial-deafness-hand syndrome 33.0 PAX3 KIR2DS4
5 waardenburg syndrome, type 4a 32.7 SOX10 RET PAX3 MITF EDNRB-AS1 EDNRB
6 waardenburg syndrome, type 2a 32.6 TFE3 SOX10 PAX3 MITF EDNRB-AS1 EDNRB
7 ocular albinism with congenital sensorineural deafness 32.6 TYR PAX3 MITF
8 waardenburg syndrome, type 2b 32.6 WS2B SOX10 MITF EDN3
9 waardenburg syndrome, type 4c 32.5 SOX10 PAX3 MITF EDNRB EDN3
10 tietz albinism-deafness syndrome 32.4 TYRP1 TYR SOX10 PAX3 MITF KITLG
11 waardenburg syndrome, type 2d 32.4 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
12 waardenburg syndrome, type 3 32.4 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
13 waardenburg syndrome, type 2e 32.0 TYR SOX10 SNAI2 PAX3 MITF KITLG
14 waardenburg syndrome, type 4b 31.7 TYR SOX10 SNAI2 PAX3 MITF KITLG
15 waardenburg syndrome, type 2c 31.7 TYRP1 TFE3 SOX10 SNAI2 PAX3 MITF
16 sensorineural hearing loss 31.2 SOX10 RET PAX3 MITF GJB2
17 constipation 31.1 RET KIT EDNRB EDN3
18 albinism 31.0 TYRP1 TYR MITF
19 megacolon 30.9 SOX10 RET PAX3 KIT EDNRB EDN3
20 intestinal obstruction 30.9 RET KIT EDNRB EDN3
21 hirschsprung disease 1 30.9 SOX10 SNAI2 RET PAX3 MITF KIT
22 albinism, oculocutaneous, type ib 30.8 TYRP1 TYR
23 ocular albinism 30.7 TYRP1 TYR MITF
24 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 30.6 SOX10 PAX3 MITF EDNRB EDN3
25 albinism, oculocutaneous, type ia 30.6 TYRP1 TYR
26 aniridia 1 30.6 PAX6 PAX3 KIR2DS4
27 oculocutaneous albinism 30.6 TYRP1 TYR MITF
28 vitiligo-associated multiple autoimmune disease susceptibility 1 30.5 TYRP1 TYR MITF KITLG
29 intestinal pseudo-obstruction 30.5 SOX10 RET EDNRB EDN3
30 achalasia 30.5 RET KIT EDN3
31 pathologic nystagmus 30.4 TYRP1 TYR PAX6
32 dowling-degos disease 1 30.4 TYRP1 TYR MITF KITLG KIT
33 mastocytosis 30.3 MITF KITLG KIT
34 intraocular pressure quantitative trait locus 30.3 TYR PAX6 EDNRB
35 microphthalmia 30.2 TYRP1 TYR TFE3 SOX10 PAX6 PAX3
36 piebald trait 29.7 TYRP1 TYR SOX10 SNAI2 PAX3 MITF
37 mend syndrome 12.8
38 microphthalmia with limb anomalies 11.5
39 anophthalmos with limb anomalies 11.1
40 branchiootic syndrome 1 10.7
41 malignant choroid melanoma 10.6 SOX10 MITF
42 cochlear disease 10.6 SOX10 EDNRB EDN3
43 epithelioid cell melanoma 10.6 TYR MITF
44 gallbladder melanoma 10.6 SOX10 MITF
45 hirschsprung disease 2 10.6 EDNRB-AS1 EDNRB
46 actinic keratosis 10.6 TYR SOX10 MITF
47 uterus perivascular epithelioid cell tumor 10.6 TFE3 MITF
48 albinism, oculocutaneous, type v 10.6 TYRP1 TYR
49 plexiform schwannoma 10.6 SOX10 KIT
50 clear cell papillary renal cell carcinoma 10.5 TFE3 MITF

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:

58 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 Occasional (29-5%)
2 hearing impairment 58 Very frequent (99-80%)
3 wide nasal bridge 58 Frequent (79-30%)
4 abnormal facial shape 58 Very frequent (99-80%)
5 underdeveloped nasal alae 58 Frequent (79-30%)
6 abnormality of the eye 58 Frequent (79-30%)
7 abnormality of vision 58 Very frequent (99-80%)
8 abnormality of skin pigmentation 58 Very frequent (99-80%)
9 hypopigmented skin patches 58 Very frequent (99-80%)
10 intestinal obstruction 58 Occasional (29-5%)
11 prominent nasal bridge 58 Very frequent (99-80%)
12 telecanthus 58 Frequent (79-30%)
13 abnormality of the eyebrow 58 Frequent (79-30%)
14 heterochromia iridis 58 Very frequent (99-80%)
15 premature graying of hair 58 Very frequent (99-80%)
16 aganglionic megacolon 58 Occasional (29-5%)
17 hypopigmentation of hair 58 Very frequent (99-80%)
18 synophrys 58 Very frequent (99-80%)
19 abnormality of the face 58 Frequent (79-30%)
20 abnormality of the mouth 58 Frequent (79-30%)
21 lacrimation abnormality 58 Frequent (79-30%)
22 conductive hearing impairment 58 Very frequent (99-80%)
23 abnormality of the uterus 58 Occasional (29-5%)
24 abnormality of the lip 58 Frequent (79-30%)
25 white forelock 58 Frequent (79-30%)
26 abnormality of the vagina 58 Occasional (29-5%)
27 abnormality of the gastrointestinal tract 58 Occasional (29-5%)
28 oral cleft 58 Occasional (29-5%)
29 myelomeningocele 58 Occasional (29-5%)
30 aplasia/hypoplasia of the colon 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Waardenburg's Syndrome:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 EDNRB FN1 GJB2 KIT KITLG MITF
2 embryo MP:0005380 10.39 EDN3 EDNRB FN1 GJB2 KIT KITLG
3 cellular MP:0005384 10.38 EDNRB FN1 GJB2 KIT KITLG MITF
4 craniofacial MP:0005382 10.37 EDNRB FN1 GJB2 KIT KITLG MITF
5 integument MP:0010771 10.36 EDN3 EDNRB FN1 GJB2 KIT KITLG
6 behavior/neurological MP:0005386 10.35 EDN3 EDNRB KIT MITF PAX3 PAX6
7 homeostasis/metabolism MP:0005376 10.35 EDNRB FN1 GJB2 KIT KITLG MITF
8 mortality/aging MP:0010768 10.35 EDN3 EDNRB FN1 GJB2 KIT KITLG
9 cardiovascular system MP:0005385 10.3 EDNRB FN1 GJB2 KIT KITLG PAX3
10 immune system MP:0005387 10.3 EDNRB FN1 GJB2 KIT KITLG MITF
11 nervous system MP:0003631 10.28 EDN3 EDNRB FN1 GJB2 KIT KITLG
12 endocrine/exocrine gland MP:0005379 10.27 EDNRB KIT KITLG MITF PAX3 PAX6
13 digestive/alimentary MP:0005381 10.24 EDN3 EDNRB KIT KITLG PAX3 PAX6
14 hearing/vestibular/ear MP:0005377 10.2 EDNRB GJB2 KIT KITLG MITF PAX3
15 limbs/digits/tail MP:0005371 10.19 EDNRB FN1 GJB2 KIT KITLG MITF
16 neoplasm MP:0002006 10.16 EDNRB FN1 KIT KITLG PAX3 PAX6
17 pigmentation MP:0001186 10.1 EDN3 EDNRB KIT KITLG MITF PAX3
18 normal MP:0002873 10.07 FN1 GJB2 KIT MITF PAX3 PAX6
19 no phenotypic analysis MP:0003012 10.01 GJB2 KIT MITF PAX3 RET SEC23IP
20 reproductive system MP:0005389 9.9 FN1 GJB2 KIT KITLG MITF PAX6
21 renal/urinary system MP:0005367 9.8 EDNRB KIT MITF PAX3 PAX6 RET
22 skeleton MP:0005390 9.73 EDNRB FN1 GJB2 KIT KITLG MITF
23 vision/eye MP:0005391 9.36 EDNRB GJB2 KIT KITLG MITF PAX3

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:

40
Eye, Skin, Heart, Kidney, Uterus, Colon, Bone

Publications for Waardenburg's Syndrome

Articles related to Waardenburg's Syndrome:

(show top 50) (show all 834)
# Title Authors PMID Year
1
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 54 61 6
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? 54 61 6
11683776 2001
3
Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. 54 61 6
9856573 1998
4
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. 54 61 6
8659547 1996
5
SLUG (SNAI2) deletions in patients with Waardenburg disease. 61 6
12444107 2002
6
Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. 61 6
10587587 2000
7
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 61 6
9158138 1997
8
The mutational spectrum in Waardenburg syndrome. 61 6
8589691 1995
9
Homozygosity for Waardenburg syndrome. 61 6
7726174 1995
10
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. 61 6
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). 61 6
8447316 1993
12
Autosomal dominant inheritance of Klein-Waardenburg syndrome. 61 6
1536170 1992
13
Upper limb involvement in the Klein-Waardenburg syndrome. 61 6
7091186 1982
14
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 61 6
666627 1978
15
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 6
27889061 2016
16
Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration. 54 61
18704124 2009
17
Structural basis for DNA recognition by the human PAX3 homeodomain. 54 61
19199574 2009
18
Pax genes in embryogenesis and oncogenesis. 54 61
18627422 2008
19
A novel MITF splice site mutation in a family with Waardenburg syndrome. 54 61
18595666 2008
20
SOX10 mutation in Waardenburg syndrome type II. 54 61
18627047 2008
21
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. 54 61
18397875 2008
22
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. 54 61
18348267 2008
23
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 54 61
18424413 2008
24
Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling. 54 61
19239084 2008
25
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. 54 61
17855451 2007
26
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 54 61
17999358 2007
27
[A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II]. 54 61
18229597 2007
28
Screening for novel PAX3 polymorphisms and risks of spina bifida. 54 61
17149730 2007
29
Transcriptional repression activity of PAX3 is modulated by competition between corepressor KAP1 and heterochromatin protein 1. 54 61
16945326 2006
30
A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. 54 61
16971891 2006
31
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. 54 61
16504559 2006
32
SLUG (SNAI2) overexpression in embryonic development. 54 61
16717446 2006
33
A genetic screen for mutations that affect cranial nerve development in the mouse. 54 61
16354937 2005
34
Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations. 54 61
16280008 2005
35
Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform. 54 61
15715979 2005
36
Craniofacial-deafness-hand syndrome revisited. 54 61
14556253 2003
37
A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. 54 61
12944398 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. 54 61
12871913 2003
39
Microphthalmia-associated transcription factor in the Wnt signaling pathway. 54 61
12753399 2003
40
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. 54 61
12668617 2003
41
Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1. 54 61
12048204 2002
42
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. 54 61
11484199 2001
43
The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. 54 61
11478782 2001
44
A novel KIT mutation results in piebaldism with progressive depigmentation. 54 61
11174389 2001
45
Regulation of Pax3 transcriptional activity by SUMO-1-modified PML. 54 61
11244500 2001
46
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. 54 61
10938265 2000
47
MITF: a stream flowing for pigment cells. 54 61
10952390 2000
48
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. 54 61
10982026 2000
49
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. 54 61
10790403 2000
50
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. 54 61
10762540 2000

Variations for Waardenburg's Syndrome

ClinVar genetic disease variations for Waardenburg's Syndrome:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX3 NM_001127366.2(PAX3):c.(?_-77)_(583_?)+547deldeletion Pathogenic 228386 2:223158339-223163411 2:222293620-222298692
2 PAX3 NM_181458.4(PAX3):c.668G>A (p.Arg223Gln)SNV Pathogenic 228387 rs876657717 2:223096921-223096921 2:222232202-222232202
3 MITF NM_000248.3(MITF):c.643AGA[2]short repeat Pathogenic 14272 rs1553704814 3:70005612-70005614 3:69956461-69956463
4 PAX3 NM_181458.4(PAX3):c.879dup (p.Phe294fs)duplication Pathogenic 505425 rs1553572967 2:223086019-223086020 2:222221300-222221301
5 MITF NM_000248.3(MITF):c.473A>G (p.Tyr158Cys)SNV Likely pathogenic 373914 rs1057518765 3:69998233-69998233 3:69949082-69949082
6 SOX10 NM_006941.3(SOX10):c.753G>A (p.Ser251=)SNV Conflicting interpretations of pathogenicity 341617 rs376907937 22:38370150-38370150 22:37974143-37974143
7 EDNRB NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)SNV Conflicting interpretations of pathogenicity 16637 rs1801710 13:78492540-78492540 13:77918405-77918405
8 PAX3 NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)SNV Conflicting interpretations of pathogenicity 218940 rs2234675 2:223085955-223085955 2:222221236-222221236
9 EDNRB NM_001122659.3(EDNRB):c.-26G>ASNV Conflicting interpretations of pathogenicity 225346 rs2070591 13:78492734-78492734 13:77918599-77918599
10 MITF NM_000248.3(MITF):c.861A>G (p.Glu287=)SNV Conflicting interpretations of pathogenicity 227545 rs137904015 3:70014000-70014000 3:69964849-69964849
11 MITF NM_000248.3(MITF):c.959T>C (p.Val320Ala)SNV Conflicting interpretations of pathogenicity 346499 rs2055006 3:70014098-70014098 3:69964947-69964947
12 MITF NM_000248.3(MITF):c.323A>T (p.His108Leu)SNV Conflicting interpretations of pathogenicity 346495 rs761038653 3:69988310-69988310 3:69939159-69939159
13 SNAI2 NM_003068.5(SNAI2):c.606A>G (p.Gly202=)SNV Conflicting interpretations of pathogenicity 363264 rs370952195 8:49832474-49832474 8:48919915-48919915
14 EDNRB NM_001122659.3(EDNRB):c.1194+15C>TSNV Conflicting interpretations of pathogenicity 312469 rs886050325 13:78473979-78473979 13:77899844-77899844
15 EDNRB NM_001122659.3(EDNRB):c.*2355T>CSNV Uncertain significance 312443 rs886050319 13:78469980-78469980 13:77895845-77895845
16 EDN3 NM_207034.3(EDN3):c.*96G>ASNV Uncertain significance 339129 rs886056875 20:57899610-57899610 20:59324555-59324555
17 EDN3 NM_207034.3(EDN3):c.*145C>ASNV Uncertain significance 339137 rs886056881 20:57899659-57899659 20:59324604-59324604
18 EDN3 NM_207034.3(EDN3):c.*831G>ASNV Uncertain significance 339150 rs886056886 20:57900345-57900345 20:59325290-59325290
19 EDN3 NM_207034.3(EDN3):c.*1271A>GSNV Uncertain significance 339160 rs886056889 20:57900785-57900785 20:59325730-59325730
20 EDNRB NM_001122659.3(EDNRB):c.*2426A>CSNV Uncertain significance 312442 rs886050318 13:78469909-78469909 13:77895774-77895774
21 EDNRB NM_001122659.3(EDNRB):c.*2165C>TSNV Uncertain significance 312448 rs201086847 13:78470170-78470170 13:77896035-77896035
22 EDNRB NM_001122659.3(EDNRB):c.*1860T>GSNV Uncertain significance 312452 rs886050321 13:78470475-78470475 13:77896340-77896340
23 EDNRB NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)SNV Uncertain significance 312471 rs375637651 13:78477315-78477315 13:77903180-77903180
24 EDNRB NM_001122659.3(EDNRB):c.*2219A>GSNV Uncertain significance 312446 rs200177379 13:78470116-78470116 13:77895981-77895981
25 EDNRB NM_001122659.3(EDNRB):c.*1474G>ASNV Uncertain significance 312458 rs886050322 13:78470861-78470861 13:77896726-77896726
26 EDNRB NM_001122659.3(EDNRB):c.*918_*921deldeletion Uncertain significance 312463 rs760796267 13:78471414-78471417 13:77897279-77897282
27 EDNRB NM_001122659.3(EDNRB):c.*179G>ASNV Uncertain significance 312468 rs201848931 13:78472156-78472156 13:77898021-77898021
28 EDNRB NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser)SNV Uncertain significance 312470 rs200939685 13:78474049-78474049 13:77899914-77899914
29 EDN3 NM_207034.2(EDN3):c.-268G>CSNV Uncertain significance 339114 rs868738564 20:57875600-57875600 20:59300545-59300545
30 EDN3 NM_207034.3(EDN3):c.-164G>ASNV Uncertain significance 339116 rs749699689 20:57875704-57875704 20:59300649-59300649
31 EDN3 NM_207034.3(EDN3):c.-120C>TSNV Uncertain significance 339117 rs886056872 20:57875748-57875748 20:59300693-59300693
32 EDN3 NM_207034.3(EDN3):c.543-7C>TSNV Uncertain significance 339125 rs886056874 20:57897420-57897420 20:59322365-59322365
33 EDN3 NM_207034.3(EDN3):c.688C>T (p.Arg230Cys)SNV Uncertain significance 339126 rs372958987 20:57899485-57899485 20:59324430-59324430
34 EDNRB NM_001122659.3(EDNRB):c.*1260G>ASNV Uncertain significance 312461 rs886050323 13:78471075-78471075 13:77896940-77896940
35 EDNRB NM_001122659.3(EDNRB):c.*859C>TSNV Uncertain significance 312465 rs886050324 13:78471476-78471476 13:77897341-77897341
36 EDNRB NM_001122659.3(EDNRB):c.*585G>CSNV Uncertain significance 312466 rs201012049 13:78471750-78471750 13:77897615-77897615
37 EDNRB NM_001122659.3(EDNRB):c.318T>C (p.Val106=)SNV Uncertain significance 312472 rs200777477 13:78492391-78492391 13:77918256-77918256
38 EDN3 NM_207034.3(EDN3):c.-85G>ASNV Uncertain significance 339118 rs886056873 20:57875783-57875783 20:59300728-59300728
39 EDN3 NM_207034.3(EDN3):c.257A>G (p.Glu86Gly)SNV Uncertain significance 339122 rs761348961 20:57876669-57876669 20:59301614-59301614
40 EDN3 NM_207034.3(EDN3):c.*139_*140deldeletion Uncertain significance 339132 rs1555850390 20:57899653-57899654 20:59324598-59324599
41 EDN3 NM_207034.3(EDN3):c.*571A>GSNV Uncertain significance 339144 rs886056882 20:57900085-57900085 20:59325030-59325030
42 EDN3 NM_207034.3(EDN3):c.*585C>TSNV Uncertain significance 339145 rs886056883 20:57900099-57900099 20:59325044-59325044
43 EDNRB NM_001122659.3(EDNRB):c.*1514G>TSNV Uncertain significance 312455 rs201845371 13:78470821-78470821 13:77896686-77896686
44 EDNRB NM_001122659.3(EDNRB):c.*1513G>CSNV Uncertain significance 312456 rs200042120 13:78470822-78470822 13:77896687-77896687
45 EDN3 NM_207034.3(EDN3):c.*147C>GSNV Uncertain significance 339139 rs576673862 20:57899661-57899661 20:59324606-59324606
46 SNAI2 NM_003068.5(SNAI2):c.219C>T (p.Leu73=)SNV Uncertain significance 363266 rs189890133 8:49832861-49832861 8:48920302-48920302
47 SNAI2 NM_003068.5(SNAI2):c.-9G>TSNV Uncertain significance 363268 rs201920149 8:49833833-49833833 8:48921274-48921274
48 EDNRB NM_001122659.3(EDNRB):c.*2309T>CSNV Uncertain significance 312444 rs200621629 13:78470026-78470026 13:77895891-77895891
49 MITF NM_000248.3(MITF):c.*286G>ASNV Uncertain significance 346508 rs187361634 3:70014685-70014685 3:69965534-69965534
50 MITF NM_000248.3(MITF):c.*413_*416deldeletion Uncertain significance 346510 rs886058810 3:70014805-70014808 3:69965654-69965657

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:

36
# Name Kegg Source Accession
1 Melanogenesis hsa04916
2 Adherens junction hsa04520
3 Calcium signaling pathway hsa04020
4 Neuroactive ligand-receptor interaction hsa04080

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 KITLG KIT FN1 EDNRB EDN3
2
Show member pathways
12.5 TYRP1 TYR MITF KITLG KIT EDNRB
3 12.36 RET MITF KITLG KIT FN1 EDNRB
4
Show member pathways
11.83 SNAI2 MITF KITLG KIT
5 11.27 SOX10 SNAI2 PAX3 MITF
6 10.71 SNAI2 FN1
7 10.64 KITLG KIT
8 10.63 SOX10 PAX3 MITF KITLG KIT
9 10.07 TYRP1 TYR

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 nuclear chromatin GO:0000790 9.43 TFE3 SOX10 SNAI2 PAX6 PAX3 MITF
2 melanosome membrane GO:0033162 9.16 TYRP1 TYR
3 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 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.95 SOX10 SNAI2 MITF KITLG EDNRB
2 positive regulation of cell proliferation GO:0008284 9.93 KITLG KIT FN1 EDNRB EDN3
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 TFE3 SOX10 RET PAX6 PAX3 MITF
4 positive regulation of gene expression GO:0010628 9.8 SOX10 RET PAX6 MITF KIT FN1
5 positive regulation of MAP kinase activity GO:0043406 9.67 KITLG KIT EDN3
6 vasoconstriction GO:0042310 9.58 EDNRB EDN3
7 embryonic hemopoiesis GO:0035162 9.57 KITLG KIT
8 regulation of osteoclast differentiation GO:0045670 9.56 TFE3 MITF
9 neural crest cell migration GO:0001755 9.55 SOX10 RET KITLG EDNRB EDN3
10 melanin biosynthetic process GO:0042438 9.52 TYRP1 TYR
11 developmental pigmentation GO:0048066 9.51 KIT EDNRB
12 ectopic germ cell programmed cell death GO:0035234 9.48 KITLG KIT
13 lacrimal gland development GO:0032808 9.46 SOX10 PAX6
14 enteric nervous system development GO:0048484 9.43 SOX10 RET EDNRB
15 pigmentation GO:0043473 9.43 TYRP1 TYR SNAI2 MITF KIT EDNRB
16 vein smooth muscle contraction GO:0014826 9.4 EDNRB EDN3
17 posterior midgut development GO:0007497 9.37 RET EDNRB
18 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 factor activity, RNA polymerase II-specific GO:0000981 9.73 TFE3 SOX10 SNAI2 PAX6 PAX3 MITF
2 DNA-binding transcription factor activity GO:0003700 9.43 TFE3 SOX10 SNAI2 PAX6 PAX3 MITF
3 HMG box domain binding GO:0071837 9.16 PAX6 PAX3
4 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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