Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: WRD001
MIFTS: 57

Waardenburg's Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Ear diseases, Eye diseases, Skin diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Waardenburg's Syndrome

About this section

MalaCards integrated aliases for Waardenburg's Syndrome:

Name: Waardenburg's Syndrome 12 24 14
Waardenburg Syndrome 12 72 49 24 55 36 28 41 69
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 49 69
Van Der Hoeve Halbertsona Waardenburg Syndrome 12
Waardenburg, Types I and/or Ii 12
Waardenburg Syndrome, Type 4a 69
Waardenburg Shah Syndrome 12
Waardenburgs Syndrome 51
Mende Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
waardenburg syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Ear diseases Eye diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 55  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:9258
MeSH 41 D014849
SNOMED-CT 64 47434006
Orphanet 55 ORPHA3440
MESH via Orphanet 42 D014849
UMLS via Orphanet 70 C0043008 C3266898
ICD10 via Orphanet 33 E70.3
KEGG 36 H00759
Sources

Summaries for Waardenburg's Syndrome

About this section
NIH Rare Diseases : 49 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. Last updated: 2/10/2016

MalaCards based summary : Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome, type 1 and waardenburg syndrome, type 2e, and has symptoms including abnormality of the uterus, abnormality of the vagina and abnormality of the lip. 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 growth/size/body region and embryo

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 : 24 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.

Sources

Related Diseases for Waardenburg's Syndrome

About this section

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 59)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 1 34.3 EDN3 MITF PAX3 SOX10
2 waardenburg syndrome, type 2e 33.9 EDNRB KITLG MITF SNAI2 SOX10
3 waardenburg syndrome type 4 33.2 EDN3 EDNRB MITF SOX10
4 waardenburg syndrome, type 4a 33.1 EDN3 EDNRB MITF RET SOX10
5 dilution, pigmentary 30.8 KIT SNAI2
6 microphthalmia 29.8 MITF PAX3 PAX6 TFE3 TYR TYRP1
7 waardenburg syndrome, type 3 12.5
8 mend syndrome 12.4
9 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 11.9
10 waardenburg syndrome, type 4b 11.2
11 waardenburg syndrome, type 4c 11.2
12 skin/hair/eye pigmentation, variation in, 3 10.6 MITF TYR
13 albinism, ocular, with sensorineural deafness 10.6 MITF TYR
14 hermansky-pudlak syndrome 1 10.5 PAX3 SOX10 TYR
15 tyrosinase-like 10.5 TYR TYRP1
16 pigmented basal cell carcinoma 10.5 MITF TYR
17 goldberg-shprintzen syndrome 10.4 EDN3 EDNRB RET
18 intestinal pseudo-obstruction 10.4 EDNRB RET SOX10
19 epithelioid cell melanoma 10.4 MITF TYR
20 hermansky-pudlak syndrome 3 10.4 MITF TYR TYRP1
21 craniofacial-deafness-hand syndrome 10.4 KIR2DS4 PAX3
22 intestinal obstruction 10.4 EDN3 EDNRB RET
23 cutaneous ganglioneuroma 10.4 KIT MITF
24 inner ear disease 10.4 GJB2 PAX3 SOX10
25 albinism 10.4 MITF TYR TYRP1
26 central hypoventilation syndrome, congenital 10.4 EDN3 EDNRB RET
27 waardenburg syndrome, type 2a 10.3 MITF TFE3
28 angiomyolipoma 10.3 KIT MITF TYR
29 colonic disease 10.3 EDN3 EDNRB RET SOX10
30 integumentary system cancer 10.3 KIT MITF TYR
31 megacolon 10.3 EDN3 EDNRB RET SOX10
32 aniridia 1 10.3 KIR2DS4 PAX3 PAX6
33 childhood kidney cell carcinoma 10.3 MITF PAX3 TFE3
34 mutism 10.3 GJB2 MITF
35 amelanotic melanoma 10.3 KIT TYR TYRP1
36 tietz albinism-deafness syndrome 10.3 EDN3 MITF PAX3 SOX10 TYR
37 constipation 10.3 EDNRB KIT RET
38 clear cell papillary renal cell carcinoma 10.3 MITF TFE3
39 malignant spindle cell melanoma 10.3 KIT MITF SOX10 TYR
40 breast angiosarcoma 10.2 KIT MITF SOX10 TYR
41 lentigines 10.2 EDNRB KIT MITF TYR
42 cell type cancer 10.2 KIT MITF TYR
43 pseudopapilledema 10.2 PAX6 RET
44 melanoma, cutaneous malignant 1 10.2 KIT MITF TYRP1
45 mast cell disease 10.2 KIT KITLG MITF
46 renal cell carcinoma, papillary, 1 10.2 KIT MITF TFE3
47 muscle cancer 10.2 KIT PAX3 TFE3
48 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 KITLG MITF TYR TYRP1
49 indolent systemic mastocytosis 10.1 KIT KITLG
50 cochlear disease 10.1 EDN3 EDNRB MITF PAX3 SNAI2 SOX10

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



Diseases related to Waardenburg's Syndrome
Sources

Symptoms & Phenotypes for Waardenburg's Syndrome

About this section

Human phenotypes related to Waardenburg's Syndrome:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the uterus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000130
2 abnormality of the vagina 55 31 occasional (7.5%) Occasional (29-5%) HP:0000142
3 abnormality of the lip 55 31 frequent (33%) Frequent (79-30%) HP:0000159
4 oral cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0000202
5 conductive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000405
6 prominent nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000426
7 underdeveloped nasal alae 55 31 frequent (33%) Frequent (79-30%) HP:0000430
8 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
9 abnormality of vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000504
10 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
11 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
12 lacrimation abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000632
13 synophrys 55 31 hallmark (90%) Very frequent (99-80%) HP:0000664
14 hypopigmented skin patches 55 31 hallmark (90%) Very frequent (99-80%) HP:0001053
15 heterochromia iridis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001100
16 abnormal facial shape 55 31 hallmark (90%) Very frequent (99-80%) HP:0001999
17 white forelock 55 31 frequent (33%) Frequent (79-30%) HP:0002211
18 premature graying of hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002216
19 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
20 myelomeningocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002475
21 intestinal obstruction 55 31 occasional (7.5%) Occasional (29-5%) HP:0005214
22 aplasia/hypoplasia of the colon 55 31 occasional (7.5%) Occasional (29-5%) HP:0100811
23 abnormality of the mouth 55 Frequent (79-30%)
24 abnormality of the face 55 Frequent (79-30%)
25 hearing impairment 55 Very frequent (99-80%)
26 abnormality of the eye 55 Frequent (79-30%)
27 abnormality of the eyebrow 55 Frequent (79-30%)
28 abnormality of skin pigmentation 55 Very frequent (99-80%)
29 hypopigmentation of hair 55 Very frequent (99-80%)
30 abnormality of the gastrointestinal tract 55 Occasional (29-5%)

MGI Mouse Phenotypes related to Waardenburg's Syndrome:

43 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.47 GJB2 KITLG KIT EDNRB MITF COL6A3
2 embryo MP:0005380 10.43 KITLG KIT GJB2 EDNRB MITF PAX6
3 cellular MP:0005384 10.42 GJB2 KITLG KIT FN1 PAX3 EDNRB
4 integument MP:0010771 10.39 KITLG KIT EDNRB MITF GJB2 PAX6
5 craniofacial MP:0005382 10.38 KITLG KIT GJB2 EDNRB MITF PAX6
6 mortality/aging MP:0010768 10.38 GJB2 KITLG KIT FN1 PAX3 MITF
7 behavior/neurological MP:0005386 10.36 KIT EDN3 PAX3 MITF EDNRB PAX6
8 homeostasis/metabolism MP:0005376 10.35 KIT GJB2 FN1 PAX3 EDNRB MITF
9 cardiovascular system MP:0005385 10.31 KIT GJB2 KITLG FN1 PAX3 EDNRB
10 immune system MP:0005387 10.3 KIT GJB2 KITLG FN1 PAX3 EDNRB
11 hematopoietic system MP:0005397 10.29 KIT FN1 PAX3 EDNRB MITF EBP
12 endocrine/exocrine gland MP:0005379 10.27 KIT PAX3 EDNRB MITF KITLG PAX6
13 nervous system MP:0003631 10.25 GJB2 KITLG KIT FN1 PAX3 MITF
14 digestive/alimentary MP:0005381 10.24 KIT KITLG PAX3 EDNRB EDN3 PAX6
15 hearing/vestibular/ear MP:0005377 10.21 GJB2 KITLG KIT PAX3 MITF EDNRB
16 limbs/digits/tail MP:0005371 10.19 GJB2 KITLG KIT FN1 PAX3 MITF
17 neoplasm MP:0002006 10.13 KITLG KIT PAX3 EDNRB PAX6 FN1
18 pigmentation MP:0001186 10.03 KITLG KIT EDNRB MITF PAX6 PAX3
19 normal MP:0002873 10.02 KIT GJB2 FN1 PAX3 MITF PAX6
20 muscle MP:0005369 10 KIT FN1 PAX3 COL6A3 EDNRB PAX6
21 no phenotypic analysis MP:0003012 9.91 KIT GJB2 PAX3 MITF SEC23IP RET
22 reproductive system MP:0005389 9.9 GJB2 KITLG KIT FN1 MITF SNAI2
23 skeleton MP:0005390 9.77 GJB2 KITLG KIT EDNRB MITF COL6A3
24 vision/eye MP:0005391 9.4 GJB2 KITLG KIT EDNRB MITF COL6A3
Sources

Drugs & Therapeutics for Waardenburg's Syndrome

About this section

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

Sources

Genetic Tests for Waardenburg's Syndrome

About this section

Genetic tests related to Waardenburg's Syndrome:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome 28
Sources

Anatomical Context for Waardenburg's Syndrome

About this section

MalaCards organs/tissues related to Waardenburg's Syndrome:

38
Skin, Eye, Colon, Uterus, Bone, Neutrophil, Pituitary
Sources

Publications for Waardenburg's Syndrome

About this section

Articles related to Waardenburg's Syndrome:

(show top 50) (show all 99)
# Title Authors Year
1
50 Years Ago in The Journal of Pediatrics: Waardenburg's Syndrome: The Risk of Recurrence of Congenital Deafness in a Kindred. ( 26319917 )
2015
2
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
3
Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome. ( 25565054 )
2014
4
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/blind in Kaduna-Nigeria. ( 21970256 )
2011
5
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. ( 21526624 )
2010
6
Cochlear implantation in Waardenburg's syndrome. ( 16012032 )
2005
7
Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. ( 15200507 )
2004
8
Auditory neuropathy in siblings with Waardenburg's syndrome. ( 14550970 )
2003
9
Temporal bone imaging findings in Waardenburg's syndrome. ( 11335009 )
2001
10
Otopathology in a case of type I Waardenburg's syndrome. ( 11558766 )
2001
11
Open angle glaucoma as a manifestation of Waardenburg's syndrome. ( 11271935 )
2000
12
Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome. ( 10755116 )
2000
13
Audiometric manifestations of Waardenburg's syndrome. ( 11011489 )
2000
14
Waardenburg's syndrome a rare entity. ( 23119554 )
1999
15
Atypical presentation of Waardenburg's syndrome type II. ( 10229606 )
1999
16
Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease? ( 10190061 )
1999
17
Partial anodontia in a case of Waardenburg's syndrome. ( 10605569 )
1999
18
Distortion product emissions in normal-hearing and low-frequency hearing loss carriers of genes for Waardenburg's syndrome. ( 9078934 )
1997
19
Anesthetic problems in a child with Waardenburg's syndrome and Hirschsprung's disease. ( 28921027 )
1996
20
Waardenburg's syndrome. ( 20952962 )
1995
21
Waardenburg's syndrome and pituitary tumor. ( 7887168 )
1994
22
Waardenburg's syndrome. ( 7941767 )
1993
23
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. ( 1347149 )
1992
24
Temporal bone histopathologic findings of Waardenburg's syndrome: a case report. ( 1573954 )
1992
25
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. ( 1347148 )
1992
26
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. ( 1636383 )
1992
27
Waardenburg's syndrome. Report of a case with nasal atresia. ( 1947889 )
1991
28
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. ( 2324631 )
1990
29
Genetic heterogeneity in Waardenburg's syndrome. ( 2738907 )
1989
30
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). ( 2503803 )
1989
31
Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. ( 2609099 )
1989
32
Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? ( 3288381 )
1988
33
Pigment distribution in Waardenburg's syndrome: a new hypothesis. ( 3792843 )
1986
34
The eyes have it: Waardenburg's syndrome. ( 3468364 )
1986
35
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. ( 3952027 )
1986
36
Waardenburg's syndrome associated with ostium secundum atrial septal defect. ( 3795215 )
1986
37
Temporal bone involvement in Waardenburg's syndrome. ( 4042918 )
1985
38
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. ( 6332792 )
1984
39
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. ( 6335502 )
1984
40
Waardenburg's syndrome associated with total aganglionosis. ( 6651333 )
1983
41
Waardenburg's memorial lecture: Waardenburg's syndrome. ( 6749731 )
1982
42
Waardenburg's syndrome: the need for family investigation and genetic counselling. ( 7280541 )
1981
43
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. ( 7305423 )
1981
44
Waardenburg's syndrome: variations in expressivity. ( 6793979 )
1981
45
Waardenburg's syndrome. ( 7401140 )
1980
46
Waardenburg's syndrome. ( 6970403 )
1980
47
Waardenburg's syndrome and Hirschsprung's disease in the same patient. ( 7418259 )
1980
48
Waardenburg's syndrome. ( 7203595 )
1980
49
A possible animal model for Waardenburg's syndrome. ( 468455 )
1979
50
Waardenburg's syndrome. ( 115785 )
1979
Sources

Variations for Waardenburg's Syndrome

About this section

ClinVar genetic disease variations for Waardenburg's Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 EBP NM_006579.2(EBP): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs104894795 GRCh37 Chromosome X, 48382212: 48382212
2 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh37 Chromosome 13, 78492540: 78492540
3 EBP NM_006579.2(EBP): c.141G> T (p.Trp47Cys) single nucleotide variant Pathogenic rs587783599 GRCh37 Chromosome X, 48382300: 48382300
4 EBP NM_006579.2(EBP): c.224T> A (p.Ile75Asn) single nucleotide variant Pathogenic rs797045153 GRCh37 Chromosome X, 48382383: 48382383
5 EBP NM_006579.2(EBP): c.139T> C (p.Trp47Arg) single nucleotide variant Pathogenic rs878854359 GRCh38 Chromosome X, 48523910: 48523910
6 PAX3 NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547del deletion Pathogenic GRCh37 Chromosome 2, 223158339: 223163411
7 PAX3 NM_181457.3(PAX3): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs876657717 GRCh38 Chromosome 2, 222232202: 222232202
8 MITF NM_198159.2(MITF): c.(?_355)-1203_*(78_?)del deletion Pathogenic GRCh38 Chromosome 3, 69936619: 69965326
9 MITF NM_198159.2(MITF): c.(?_938)-102_*(78_?)del deletion Pathogenic GRCh38 Chromosome 3, 69956353: 69965326
10 MITF NM_000248.3(MITF): c.383C> G (p.Ser128Ter) single nucleotide variant Pathogenic rs876657700 GRCh38 Chromosome 3, 69941273: 69941273
11 MITF NM_000248.3(MITF): c.722G> A (p.Trp241Ter) single nucleotide variant Pathogenic rs876657698 GRCh37 Chromosome 3, 70008435: 70008435
12 MITF NM_000248.3(MITF): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs876657699 GRCh37 Chromosome 3, 70008521: 70008521
13 EDNRB NM_000115.4(EDNRB): c.618G> A (p.Trp206Ter) single nucleotide variant Pathogenic rs876657688 GRCh38 Chromosome 13, 77903339: 77903339
14 SOX10 NM_006941.3(SOX10): c.(?_698)_(1401_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome 22, 38369502: 38370205
15 SOX10 NM_006941.3(SOX10): c.401T> C (p.Leu134Pro) single nucleotide variant Likely pathogenic rs876657660 GRCh38 Chromosome 22, 37983384: 37983384
16 MITF NM_198159.2(MITF): c.794A> G (p.Tyr265Cys) single nucleotide variant Likely pathogenic rs1057518765 GRCh37 Chromosome 3, 69998233: 69998233
Sources

Expression for Waardenburg's Syndrome

About this section
Search GEO for disease gene expression data for Waardenburg's Syndrome.
Sources

Pathways for Waardenburg's Syndrome

About this section

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
Development Angiotensin activation of ERK 21
Show member pathways
 12.56 EDN3 EDNRB FN1 KIT KITLG
2
Pathways in cancer 36
12.46 EDNRB FN1 KIT KITLG MITF RET
3
Kit receptor signaling pathway 1
Show member pathways
 11.88 KIT KITLG MITF SNAI2
4
Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways 61
Show member pathways
 11.79 EDNRB KIT KITLG MITF TYR TYRP1
5
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 61
11.59 FN1 KIT PAX3
6
Neural Crest Differentiation 1
11.47 MITF PAX3 SNAI2 SOX10
7
TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition 1
10.73 FN1 SNAI2
8
Regulation of KIT signaling 62
10.66 KIT KITLG
9
Melanocyte Development and Pigmentation 60
10.63 KIT KITLG MITF PAX3 SOX10
10
Melanin biosynthesis 62
10.02 TYR TYRP1
Sources

GO Terms for Waardenburg's Syndrome

About this section

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 negative regulation of apoptotic process GO:0043066 9.95 EDNRB KITLG MITF SNAI2 SOX10
2 positive regulation of cell proliferation GO:0008284 9.93 EDN3 EDNRB FN1 KIT KITLG
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 MITF PAX3 PAX6 RET SOX10 TFE3
4 positive regulation of gene expression GO:0010628 9.8 FN1 KIT MITF PAX6 RET SOX10
5 positive regulation of MAP kinase activity GO:0043406 9.67 EDN3 KIT KITLG
6 positive regulation of neuroblast proliferation GO:0002052 9.59 PAX6 SOX10
7 response to pain GO:0048265 9.58 EDNRB RET
8 vasoconstriction GO:0042310 9.58 EDN3 EDNRB
9 regulation of osteoclast differentiation GO:0045670 9.57 MITF TFE3
10 embryonic hemopoiesis GO:0035162 9.56 KIT KITLG
11 developmental pigmentation GO:0048066 9.52 EDNRB KIT
12 melanin biosynthetic process GO:0042438 9.51 TYR TYRP1
13 lacrimal gland development GO:0032808 9.48 PAX6 SOX10
14 ectopic germ cell programmed cell death GO:0035234 9.46 KIT KITLG
15 neural crest cell migration GO:0001755 9.46 EDNRB KITLG RET SOX10
16 enteric nervous system development GO:0048484 9.43 EDNRB RET SOX10
17 vein smooth muscle contraction GO:0014826 9.4 EDN3 EDNRB
18 posterior midgut development GO:0007497 9.37 EDNRB RET
19 melanocyte differentiation GO:0030318 9.35 EDNRB KIT MITF SOX10 TYRP1
20 pigmentation GO:0043473 9.1 EDNRB KIT MITF SNAI2 TYR 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 9.33 KIT KITLG RET
2 HMG box domain binding GO:0071837 8.96 PAX3 PAX6
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.8 MITF SNAI2 SOX10
Sources

Sources for Waardenburg's Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....