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: 55

Waardenburg's Syndrome malady

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

Aliases & Classifications for Waardenburg's Syndrome

About this section

Aliases & Descriptions for Waardenburg's Syndrome:

Name: Waardenburg's Syndrome 12 25 14
Waardenburg Syndrome 12 71 50 25 56 29 42 69
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 50 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 52
Mende Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
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 Fetal diseases Genetic diseases
Anatomical: Eye diseases Ear diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 56  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:9258
MeSH 42 D014849
SNOMED-CT 64 47434006
Orphanet 56 ORPHA3440
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 70 C0043008
MESH via Orphanet 43 D014849
Sources

Summaries for Waardenburg's Syndrome

About this section
NIH Rare Diseases : 50 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. last updated: 2/10/2016

MalaCards based summary : Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome, type 4a and waardenburg syndrome, type 3, and has symptoms including ptosis, wide nasal bridge and abnormal facial shape. An important gene associated with Waardenburg's Syndrome is PAX3 (Paired Box 3), and among its related pathways/superpathways are Pathways in cancer and Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. Affiliated tissues include skin, eye and colon, and related phenotypes are growth/size/body region and behavior/neurological

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

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

Wikipedia : 71 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

Sources

Related Diseases for Waardenburg's Syndrome

About this section

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 2a
Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d
Waardenburg Syndrome, Type 4a 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 all 43)
id Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4a 32.8 EDNRB RET
2 waardenburg syndrome, type 3 31.6 ALPP EDN3 MITF PAX3 SOX10
3 mend syndrome 12.2
4 pcwh syndrome 11.8
5 waardenburg syndrome type 4 11.6
6 waardenburg syndrome, type 1 11.0
7 waardenburg syndrome, type 2a 11.0
8 hirschsprung disease 1 11.0
9 waardenburg syndrome, type 4b 11.0
10 waardenburg syndrome, type 4c 11.0
11 epiphyseal dysplasia, multiple, 3 10.3 EDN3 EDNRB
12 deafness, mitochondrial, modifier of 10.3 EDNRB SOX10
13 melanoma, cutaneous malignant 8 10.3 MITF TYR
14 verrucous papilloma 10.3 MITF SOX10 TYR
15 focal facial dermal dysplasia 4 10.2 PAX3 SOX10 TYR
16 apocrine adenoma 10.2 EDNRB RET SOX10
17 craniosynostosis 6 10.2 MITF TYR TYRP1
18 shprintzen-goldberg syndrome 10.2 EDN3 EDNRB RET
19 epilepsy, progressive myoclonic 5 10.2 MITF TYR
20 external ear basal cell carcinoma 10.2 MITF TYR
21 wdha syndrome 10.2 EDN3 EDNRB MITF SOX10
22 ariboflavinosis 10.2 EDN3 EDNRB RET
23 dihydrolipoamide dehydrogenase deficiency 10.2 GJB2 MITF PAX3
24 skin pilomatrix carcinoma 10.2 EDN3 EDNRB RET SOX10
25 spinal meningioma 10.2 EDN3 EDNRB RET SOX10
26 waardenburg syndrome/ocular albinism, digenic 10.2 MITF TFE3
27 collecting duct carcinoma 10.2 MITF PAX3 TFE3
28 chronic infections, due to mbl deficiency 10.2 EDN3 EDNRB RET
29 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.1 MITF SOX10 TYR TYRP1
30 charcot-marie-tooth neuropathy, x-linked recessive, 2 10.1 KITLG MITF SNAI2 SOX10
31 dentinogenesis imperfecta, shields type ii 10.1 KITLG MITF PAX3 SNAI2
32 ceroid lipofuscinosis, neuronal, 5 10.1 EDN3 EDNRB MITF RET SOX10
33 spondyloarthropathy 3 10.1 KIR2DS4 PAX3
34 intracranial embolism 10.1 MITF TYR
35 epidermolysis bullosa simplex, recessive 1 10.1 KITLG MITF TYR TYRP1
36 nail disorder, nonsyndromic congenital, 7 10.1 KITLG MITF TYR TYRP1
37 cervical adenofibroma 10.0 EDN3 EDNRB MITF PAX3 SNAI2 SOX10
38 tooth agenesis, selective, 5 10.0 EDN3 EDNRB MITF PAX3 RET SOX10
39 microphthalmia 10.0
40 x-linked nonsyndromic deafness 10.0 GJB2 KITLG MITF PAX3
41 aicardi-goutieres syndrome 6 10.0 EDN3 MITF PAX3 SOX10 TYR TYRP1
42 cystinosis 9.9 MITF PAX6 TFE3 TYR TYRP1
43 myopathy of extraocular muscle 7.9 AEBP2 ALPP EDN3 EDNRB FN1 GJB2

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:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 56 32 Occasional (29-5%) HP:0000508
2 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
3 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
4 abnormality of vision 56 32 Very frequent (99-80%) HP:0000504
5 hypopigmented skin patches 56 32 Very frequent (99-80%) HP:0001053
6 intestinal obstruction 56 32 Occasional (29-5%) HP:0005214
7 prominent nasal bridge 56 32 Very frequent (99-80%) HP:0000426
8 underdeveloped nasal alae 56 32 Frequent (79-30%) HP:0000430
9 telecanthus 56 32 Frequent (79-30%) HP:0000506
10 heterochromia iridis 56 32 Very frequent (99-80%) HP:0001100
11 premature graying of hair 56 32 Very frequent (99-80%) HP:0002216
12 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
13 conductive hearing impairment 56 32 Very frequent (99-80%) HP:0000405
14 abnormality of the uterus 56 32 Occasional (29-5%) HP:0000130
15 lacrimation abnormality 56 32 Frequent (79-30%) HP:0000632
16 white forelock 56 32 Frequent (79-30%) HP:0002211
17 abnormality of the vagina 56 32 Occasional (29-5%) HP:0000142
18 synophrys 56 32 Very frequent (99-80%) HP:0000664
19 oral cleft 56 32 Occasional (29-5%) HP:0000202
20 abnormality of the lip 56 32 Frequent (79-30%) HP:0000159
21 myelomeningocele 56 32 Occasional (29-5%) HP:0002475
22 aplasia/hypoplasia of the colon 56 32 Occasional (29-5%) HP:0100811
23 hearing impairment 56 Very frequent (99-80%)
24 abnormality of the eye 56 Frequent (79-30%)
25 abnormality of the eyebrow 56 Frequent (79-30%)
26 hypopigmentation of hair 56 Very frequent (99-80%)
27 abnormality of the face 56 Frequent (79-30%)
28 abnormality of the mouth 56 Frequent (79-30%)
29 abnormality of skin pigmentation 56 Very frequent (99-80%)
30 abnormality of the gastrointestinal tract 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Waardenburg's Syndrome:

44 (show all 21)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 SOX10 TFE3 TYR TYRP1 AEBP2 EDNRB
2 behavior/neurological MP:0005386 10.38 AEBP2 EDN3 EDNRB MITF PAX1 PAX3
3 embryo MP:0005380 10.37 PAX3 PAX6 RET SNAI2 SOX10 TYR
4 craniofacial MP:0005382 10.35 EDNRB FN1 GJB2 KITLG MITF PAX1
5 integument MP:0010771 10.35 MITF PAX1 PAX3 PAX6 SNAI2 SOX10
6 mortality/aging MP:0010768 10.34 AEBP2 EDN3 EDNRB FN1 GJB2 KITLG
7 cellular MP:0005384 10.32 KITLG MITF PAX1 PAX3 PAX6 RET
8 cardiovascular system MP:0005385 10.29 PAX3 PAX6 RET SNAI2 TYR EDNRB
9 homeostasis/metabolism MP:0005376 10.29 EDNRB FN1 GJB2 KITLG MITF PAX3
10 immune system MP:0005387 10.27 EDNRB FN1 GJB2 KITLG MITF PAX1
11 endocrine/exocrine gland MP:0005379 10.25 EDNRB KITLG MITF PAX1 PAX3 PAX6
12 digestive/alimentary MP:0005381 10.22 AEBP2 EDN3 EDNRB KITLG PAX3 PAX6
13 nervous system MP:0003631 10.21 TYR TYRP1 EDN3 EDNRB FN1 GJB2
14 limbs/digits/tail MP:0005371 10.2 AEBP2 EDNRB FN1 GJB2 KITLG MITF
15 hearing/vestibular/ear MP:0005377 10.13 GJB2 KITLG MITF PAX3 PAX6 TYR
16 pigmentation MP:0001186 10.07 AEBP2 EDN3 EDNRB KITLG MITF PAX1
17 neoplasm MP:0002006 10.06 EDNRB FN1 KITLG PAX3 PAX6 RET
18 normal MP:0002873 10.02 PAX1 PAX3 PAX6 RET SOX10 TFE3
19 reproductive system MP:0005389 9.85 TYRP1 FN1 GJB2 KITLG MITF PAX1
20 skeleton MP:0005390 9.73 EDNRB FN1 GJB2 KITLG MITF PAX1
21 vision/eye MP:0005391 9.32 EDNRB GJB2 KITLG MITF PAX3 PAX6
Sources

Drugs & Therapeutics for Waardenburg's Syndrome

About this section

Interventional clinical trials:


id Name Status NCT ID Phase
1 Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit Recruiting 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:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome 29
Sources

Anatomical Context for Waardenburg's Syndrome

About this section

MalaCards organs/tissues related to Waardenburg's Syndrome:

39
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 98)
id 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
Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome. ( 10755116 )
2000
12
Audiometric manifestations of Waardenburg's syndrome. ( 11011489 )
2000
13
Open angle glaucoma as a manifestation of Waardenburg's syndrome. ( 11271935 )
2000
14
Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease? ( 10190061 )
1999
15
Partial anodontia in a case of Waardenburg's syndrome. ( 10605569 )
1999
16
Atypical presentation of Waardenburg's syndrome type II. ( 10229606 )
1999
17
Waardenburg's syndrome a rare entity. ( 23119554 )
1999
18
Distortion product emissions in normal-hearing and low-frequency hearing loss carriers of genes for Waardenburg's syndrome. ( 9078934 )
1997
19
Waardenburg's syndrome. ( 20952962 )
1995
20
Waardenburg's syndrome and pituitary tumor. ( 7887168 )
1994
21
Waardenburg's syndrome. ( 7941767 )
1993
22
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. ( 1347149 )
1992
23
Temporal bone histopathologic findings of Waardenburg's syndrome: a case report. ( 1573954 )
1992
24
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. ( 1636383 )
1992
25
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. ( 1347148 )
1992
26
Waardenburg's syndrome. Report of a case with nasal atresia. ( 1947889 )
1991
27
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. ( 2324631 )
1990
28
Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. ( 2609099 )
1989
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
Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? ( 3288381 )
1988
32
The eyes have it: Waardenburg's syndrome. ( 3468364 )
1986
33
Pigment distribution in Waardenburg's syndrome: a new hypothesis. ( 3792843 )
1986
34
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. ( 3952027 )
1986
35
Waardenburg's syndrome associated with ostium secundum atrial septal defect. ( 3795215 )
1986
36
Temporal bone involvement in Waardenburg's syndrome. ( 4042918 )
1985
37
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. ( 6335502 )
1984
38
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. ( 6332792 )
1984
39
Waardenburg's syndrome associated with total aganglionosis. ( 6651333 )
1983
40
Waardenburg's memorial lecture: Waardenburg's syndrome. ( 6749731 )
1982
41
Waardenburg's syndrome: variations in expressivity. ( 6793979 )
1981
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 and Hirschsprung's disease in the same patient. ( 7418259 )
1980
45
Waardenburg's syndrome. ( 6970403 )
1980
46
Waardenburg's syndrome. ( 7203595 )
1980
47
Waardenburg's syndrome. ( 7401140 )
1980
48
Waardenburg's syndrome. ( 519746 )
1979
49
A possible animal model for Waardenburg's syndrome. ( 468455 )
1979
50
Waardenburg's syndrome: case reports in two Nigerians. ( 458527 )
1979
Sources

Variations for Waardenburg's Syndrome

About this section

ClinVar genetic disease variations for Waardenburg's Syndrome:

6 (show all 16)
id 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 GRCh37 Chromosome 13, 78477474: 78477474
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 GRCh37 Chromosome 22, 38379391: 38379391
16 MITF NM_198159.2(MITF): c.794A> G (p.Tyr265Cys) single nucleotide variant Likely pathogenic rs1057518765 GRCh38 Chromosome 3, 69949082: 69949082
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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Pathways in cancer 37
12.36 EDNRB FN1 KITLG MITF RET
2
Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways 61
Show member pathways
 11.71 EDNRB KITLG MITF TYR TYRP1
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 61
11.68 ALPP KITLG MITF PAX6
4
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 61
11.56 ALPP FN1 PAX3
5
Neural Crest Differentiation 1
11.47 MITF PAX3 SNAI2 SOX10
6
TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition 1
10.69 FN1 SNAI2
7
Melanocyte Development and Pigmentation 60
10.54 KITLG MITF PAX3 SOX10
8
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:

id Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.62 TYR TYRP1

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.91 MITF PAX3 PAX6 RET SOX10 TFE3
2 transcription from RNA polymerase II promoter GO:0006366 9.88 MITF PAX1 PAX3 PAX6 SOX10 TFE3
3 pigmentation GO:0043473 9.55 EDNRB MITF SNAI2 TYR TYRP1
4 positive regulation of neuroblast proliferation GO:0002052 9.54 PAX6 SOX10
5 response to pain GO:0048265 9.52 EDNRB RET
6 vasoconstriction GO:0042310 9.51 EDN3 EDNRB
7 regulation of osteoclast differentiation GO:0045670 9.49 MITF TFE3
8 melanin biosynthetic process GO:0042438 9.48 TYR TYRP1
9 lacrimal gland development GO:0032808 9.46 PAX6 SOX10
10 enteric nervous system development GO:0048484 9.43 EDNRB RET SOX10
11 vein smooth muscle contraction GO:0014826 9.37 EDN3 EDNRB
12 neural crest cell migration GO:0001755 9.35 EDN3 EDNRB KITLG RET SOX10
13 posterior midgut development GO:0007497 9.32 EDNRB RET
14 melanocyte differentiation GO:0030318 9.02 EDN3 EDNRB MITF SOX10 TYRP1
15 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.02 MITF PAX1 PAX3 PAX6 SOX10 TFE3

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.73 MITF PAX1 PAX3 PAX6 SOX10 TFE3
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.26 MITF PAX1 PAX6 TFE3
3 HMG box domain binding GO:0071837 9.16 PAX3 PAX6
4 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.1 AEBP2 MITF PAX1 PAX6 SOX10 TFE3
Sources

Sources for Waardenburg's Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 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....