MCID: WRD001
MIFTS: 56

Waardenburg's Syndrome

Categories: Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Waardenburg's Syndrome

MalaCards integrated aliases for Waardenburg's Syndrome:

Name: Waardenburg's Syndrome 12 25 14
Waardenburg Syndrome 12 72 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:



Summaries for Waardenburg's Syndrome

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 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 3 and waardenburg syndrome, type 1, 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 Development Angiotensin activation of ERK and Pathways in cancer. Affiliated tissues include skin, eye and colon, and related phenotypes are growth/size/body region and embryo

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.

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

Wikipedia : 72 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 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 top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 3 34.5 EDN3 MITF PAX3 SOX10
2 waardenburg syndrome, type 1 12.3
3 waardenburg syndrome, type 2e, with or without neurologic involvement 12.3
4 waardenburg syndrome, type 2a 12.3
5 mend syndrome 12.2
6 pcwh syndrome 11.8
7 waardenburg syndrome, type 4a 11.7
8 waardenburg syndrome type 4 11.7
9 waardenburg syndrome, type 4b 11.0
10 waardenburg syndrome, type 4c 11.0
11 tietz albinism-deafness syndrome 10.9 MITF TYR
12 factor xiii deficiency 10.8
13 commad syndrome 10.8 MITF TYR
14 agammaglobulinemia 4 10.7 PAX3 SOX10 TYR
15 sebaceous basal cell carcinoma 10.7 MITF TYR
16 schnitzler syndrome 10.6 MITF TYR
17 shprintzen-goldberg syndrome 10.6 EDN3 EDNRB RET
18 autism susceptibility 16 10.6 MITF TYR TYRP1
19 paralytic ileus 10.6 EDN3 EDNRB RET
20 glomus tumor 10.6 KIT MITF
21 wallerian degeneration 10.6 EDN3 EDNRB MITF SOX10
22 mixed lacrimal gland cancer 10.6 GJB2 PAX3 SOX10
23 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.6 GJB2 MITF PAX3
24 collagenopathy, types ii and xi 10.6 MITF TYR TYRP1
25 hirschsprung disease 1 10.6 EDN3 EDNRB RET
26 waardenburg syndrome/ocular albinism, digenic 10.5 MITF TFE3
27 gangliosidosis gm2 10.5 KIT MITF TYR
28 heavy chain disease 10.5 KIT MITF TYR
29 spondyloarthropathy 3 10.5 KIR2DS4 PAX3
30 wolffian duct adenocarcinoma 10.5 EDN3 EDNRB RET SOX10
31 spinal meningioma 10.5 EDN3 EDNRB RET SOX10
32 hyperglycemia 10.5 GJB2 MITF
33 multilocular clear cell renal cell carcinoma 10.5 MITF PAX3 TFE3
34 malignant breast melanoma 10.5 KIT TYR TYRP1
35 melanoma, cutaneous malignant 8 10.4 EDN3 MITF PAX3 SOX10 TYR
36 angelman syndrome due to a point mutation 10.4 MITF TFE3
37 kidney hypertrophy 10.4 KIT KITLG MITF
38 sweat gland cancer 10.4 EDNRB KIT RET
39 fallopian tube serous papilloma 10.4 KIT MITF SOX10 TYR
40 thyroid angiosarcoma 10.4 KIT MITF SOX10 TYR
41 brown-vialetto-van laere syndrome 10.4 KIT MITF TYR
42 hypereosinophilic syndrome, idiopathic, resistant to imatinib 10.4 KIT KITLG MITF
43 lacrimal duct obstruction 10.4 PAX6 RET
44 dubin-johnson syndrome 10.4 KIT MITF TYRP1
45 diabetes mellitus, noninsulin-dependent, 5 10.4 EDN3 EDNRB MITF RET SOX10
46 vulval paget's disease 10.3 KIT TYR
47 autoinflammation with arthritis and dyskeratosis 10.3 KITLG MITF TYR TYRP1
48 venous hemangioma 10.3 KIT KITLG
49 mediastinum rhabdomyosarcoma 10.3 KIT PAX3 TFE3
50 deafness, mitochondrial, modifier of 10.2 EDNRB KITLG MITF SNAI2 SOX10

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:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the uterus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000130
2 abnormality of the vagina 56 32 occasional (7.5%) Occasional (29-5%) HP:0000142
3 abnormality of the lip 56 32 frequent (33%) Frequent (79-30%) HP:0000159
4 oral cleft 56 32 occasional (7.5%) Occasional (29-5%) HP:0000202
5 conductive hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000405
6 prominent nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000426
7 underdeveloped nasal alae 56 32 frequent (33%) Frequent (79-30%) HP:0000430
8 wide nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000431
9 abnormality of vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000504
10 telecanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000506
11 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
12 lacrimation abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000632
13 synophrys 56 32 hallmark (90%) Very frequent (99-80%) HP:0000664
14 hypopigmented skin patches 56 32 hallmark (90%) Very frequent (99-80%) HP:0001053
15 heterochromia iridis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001100
16 abnormal facial shape 56 32 hallmark (90%) Very frequent (99-80%) HP:0001999
17 white forelock 56 32 frequent (33%) Frequent (79-30%) HP:0002211
18 premature graying of hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002216
19 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
20 myelomeningocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0002475
21 intestinal obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0005214
22 aplasia/hypoplasia of the colon 56 32 occasional (7.5%) Occasional (29-5%) HP:0100811
23 abnormality of the mouth 56 Frequent (79-30%)
24 abnormality of the face 56 Frequent (79-30%)
25 hearing impairment 56 Very frequent (99-80%)
26 abnormality of the eye 56 Frequent (79-30%)
27 abnormality of the eyebrow 56 Frequent (79-30%)
28 abnormality of skin pigmentation 56 Very frequent (99-80%)
29 hypopigmentation of hair 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 24)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.47 COL6A3 EBP EDNRB FN1 GJB2 KIT
2 embryo MP:0005380 10.43 KITLG MITF PAX3 PAX6 RET SNAI2
3 integument MP:0010771 10.39 EBP EDN3 EDNRB FN1 GJB2 KIT
4 cellular MP:0005384 10.38 COL6A3 EDNRB FN1 GJB2 KIT KITLG
5 craniofacial MP:0005382 10.38 EDNRB FN1 GJB2 KIT KITLG MITF
6 mortality/aging MP:0010768 10.38 EBP EDN3 EDNRB FN1 GJB2 KIT
7 behavior/neurological MP:0005386 10.36 EDN3 EDNRB KIT MITF PAX3 PAX6
8 homeostasis/metabolism MP:0005376 10.35 EDNRB FN1 GJB2 KIT KITLG MITF
9 cardiovascular system MP:0005385 10.31 FN1 GJB2 KIT KITLG PAX3 PAX6
10 immune system MP:0005387 10.3 EDNRB FN1 GJB2 KIT KITLG MITF
11 endocrine/exocrine gland MP:0005379 10.27 SOX10 TYR EDNRB KIT KITLG MITF
12 nervous system MP:0003631 10.25 PAX3 PAX6 RET SNAI2 SOX10 TYR
13 digestive/alimentary MP:0005381 10.24 EDN3 EDNRB KIT KITLG PAX3 PAX6
14 hearing/vestibular/ear MP:0005377 10.21 MITF PAX3 PAX6 TYR TYRP1 EDNRB
15 hematopoietic system MP:0005397 10.2 EBP FN1 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 PAX3 PAX6 SNAI2 SOX10 TFE3 TYR
19 normal MP:0002873 10.02 GJB2 KIT MITF PAX3 PAX6 RET
20 muscle MP:0005369 10 EDNRB FN1 KIT PAX3 PAX6 RET
21 no phenotypic analysis MP:0003012 9.91 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 PAX6 SNAI2 TFE3 TYR TYRP1 COL6A3
24 vision/eye MP:0005391 9.4 SNAI2 TFE3 TYR TYRP1 KIT KITLG

Drugs & Therapeutics for Waardenburg's Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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

Genetic Tests for Waardenburg's Syndrome

Genetic tests related to Waardenburg's Syndrome:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome 29

Anatomical Context for Waardenburg's Syndrome

MalaCards organs/tissues related to Waardenburg's Syndrome:

39
Skin, Eye, Colon, Uterus, Bone, Neutrophil, Pituitary

Publications for Waardenburg's Syndrome

Articles related to Waardenburg's Syndrome:

(show top 50) (show all 99)
id Title Authors Year
1
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
2
50 Years Ago in The Journal of Pediatrics: Waardenburg's Syndrome: The Risk of Recurrence of Congenital Deafness in a Kindred. ( 26319917 )
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
Otopathology in a case of type I Waardenburg's syndrome. ( 11558766 )
2001
10
Temporal bone imaging findings in Waardenburg's syndrome. ( 11335009 )
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
Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease? ( 10190061 )
1999
16
Atypical presentation of Waardenburg's syndrome type II. ( 10229606 )
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
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. ( 1347148 )
1992
25
Temporal bone histopathologic findings of Waardenburg's syndrome: a case report. ( 1573954 )
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
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). ( 2503803 )
1989
30
Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. ( 2609099 )
1989
31
Genetic heterogeneity in Waardenburg's syndrome. ( 2738907 )
1989
32
Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? ( 3288381 )
1988
33
The eyes have it: Waardenburg's syndrome. ( 3468364 )
1986
34
Waardenburg's syndrome associated with ostium secundum atrial septal defect. ( 3795215 )
1986
35
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. ( 3952027 )
1986
36
Pigment distribution in Waardenburg's syndrome: a new hypothesis. ( 3792843 )
1986
37
Temporal bone involvement in Waardenburg's syndrome. ( 4042918 )
1985
38
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. ( 6335502 )
1984
39
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. ( 6332792 )
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: variations in expressivity. ( 6793979 )
1981
43
Waardenburg's syndrome: the need for family investigation and genetic counselling. ( 7280541 )
1981
44
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. ( 7305423 )
1981
45
Waardenburg's syndrome and Hirschsprung's disease in the same patient. ( 7418259 )
1980
46
Waardenburg's syndrome. ( 7203595 )
1980
47
Waardenburg's syndrome. ( 7401140 )
1980
48
Waardenburg's syndrome. ( 6970403 )
1980
49
Waardenburg's syndrome. ( 115785 )
1979
50
Waardenburg's syndrome: case reports in two Nigerians. ( 458527 )
1979

Variations for Waardenburg's Syndrome

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 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

Expression for Waardenburg's Syndrome

Search GEO for disease gene expression data for Waardenburg's Syndrome.

Pathways for Waardenburg's Syndrome

GO Terms for Waardenburg's Syndrome

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 8.96 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 19)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 9.96 KIT MITF PAX3 PAX6 SOX10
2 positive regulation of cell proliferation GO:0008284 9.95 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 9.72 FN1 KIT MITF PAX6 RET
5 positive regulation of MAP kinase activity GO:0043406 9.67 EDN3 KIT KITLG
6 response to pain GO:0048265 9.58 EDNRB RET
7 vasoconstriction GO:0042310 9.58 EDN3 EDNRB
8 embryonic hemopoiesis GO:0035162 9.57 KIT KITLG
9 pigmentation GO:0043473 9.55 EDNRB KIT SNAI2 TYR TYRP1
10 developmental pigmentation GO:0048066 9.54 EDNRB KIT
11 melanin biosynthetic process GO:0042438 9.52 TYR TYRP1
12 ectopic germ cell programmed cell death GO:0035234 9.51 KIT KITLG
13 regulation of developmental pigmentation GO:0048070 9.48 EDN3 KIT
14 lacrimal gland development GO:0032808 9.46 PAX6 SOX10
15 enteric nervous system development GO:0048484 9.43 EDNRB RET SOX10
16 vein smooth muscle contraction GO:0014826 9.4 EDN3 EDNRB
17 posterior midgut development GO:0007497 9.37 EDNRB RET
18 neural crest cell migration GO:0001755 9.35 EDN3 EDNRB KITLG RET SOX10
19 melanocyte differentiation GO:0030318 9.1 EDN3 EDNRB KIT MITF SOX10 TYRP1

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

id Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 KIT KITLG RET
2 HMG box domain binding GO:0071837 8.62 PAX3 PAX6

Sources for Waardenburg's Syndrome

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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