MCID: WRD001
MIFTS: 57

Waardenburg's Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Eye diseases, Ear diseases, Skin diseases, Gastrointestinal diseases categories
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Summaries for Waardenburg's Syndrome

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NIH Rare Diseases:42 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. the four known types of waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.waardenburg syndrome type 1 and type 2 have very similar features, although people with type 1 almost always have eyes that appear widely spaced and people with type 2 do not. in addition, hearing loss occurs more often in people with type 2 than in those with type 1. waardenburg syndrome type 3 (sometimes called klein-waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. waardenburg syndrome type 4 (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. last updated: 4/18/2011

MalaCards based summary: Waardenburg's Syndrome, also known as waardenburg syndrome, is related to neural tube defects and waardenburg syndrome type 4. An important gene associated with Waardenburg's Syndrome is PAX3 (paired box 3), and among its related pathways are Regulation of retinoblastoma protein and Transcription factors in neurogenesis. The compounds kojic acid and bq610 have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are hearing/vestibular/ear and tumorigenesis.

Genetics Home Reference:21 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:65 Waardenburg syndrome (also Waardenburg more...

Descriptions from OMIM:46 611584, 193510, 608890, 148820, 613266 277580, 613265, 193500 more

Aliases & Classifications for Waardenburg's Syndrome

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Waardenburg's Syndrome, Aliases & Descriptions:

Name: Waardenburg's Syndrome 8 21
Waardenburg Syndrome 8 65 42 21
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome 42 62
Van Der Hoeve Halbertsona Waardenburg Syndrome 8 62
Waardenburgs Syndrome 10 44
 
Male Ebp Disorder with Neurological Defects 48
Waardenburg, Types I and/or Ii 8
Waardenburg Syndrome, Type I 62
Mende Syndrome 42
Mend Syndrome 48


Classifications:



External Ids:

Disease Ontology8 DOID:9258
NCIt39 C85222
SNOMED-CT57 47434006
MeSH34 D014849

Related Diseases for Waardenburg's Syndrome

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Diseases in the Waardenburg Syndrome Type I family:

waardenburg's syndrome Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2a Waardenburg Syndrome Type 2b
Waardenburg Syndrome Type 3 Waardenburg Syndrome Type 4
Waardenburg Syndrome Type Iva Waardenburg Syndrome Type Ivb
Waardenburg Syndrome Type Ivc Waardenburg Syndrome Type Iic
Waardenburg Syndrome Type Iid

Diseases related to Waardenburg's Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects30.9PAX3
2waardenburg syndrome type 430.7MITF, EDNRB, EDN3, SOX10
3ocular albinism30.6TYR
4microphthalmia30.6TYR, MITF, PAX3
5piebaldism30.5SNAI2, MITF, PAX3
6waardenburg syndrome type i10.9
7waardenburg syndrome type 210.8
8waardenburg syndrome type 310.7
9waardenburg syndrome type 2a10.6
10waardenburg syndrome type iva10.6
11waardenburg syndrome type iid10.5
12waardenburg syndrome type 2b10.5
13waardenburg syndrome type ivb10.5
14waardenburg syndrome type ivc10.5
15waardenburg syndrome type iic10.4
16waardenburg syndrome, type 2e, with or without neurologic involvement10.4
17pcwh syndrome10.3
18albinism10.3
19anophthalmos with limb anomalies10.3
20peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.3
21waardenburg syndrome/ocular albinism, digenic10.3
22malignant peripheral nerve sheath tumor10.2MITF, SOX10
23neurofibroma10.2MITF, SOX10
24central hypoventilation syndrome, congenital, with or without hirschsprung disease10.2EDNRB, EDN3
25sensorineural hearing loss10.2SOX10, MITF
26intestinal obstruction10.2EDNRB, EDN3
27spina bifida10.2
28megacolon10.2
29heterochromia iridis10.2
30myelomeningocele10.2
31waardenburg syndrome/albinism, digenic10.2
32pulmonary hypertension10.1EDN3, EDNRB
33melanoma, cutaneous malignant 810.1TYR, MITF
34pigmentation disease10.1MITF, TYR
35peripheral primitive neuroectodermal tumor10.1PAX3, EDNRB
36angiomyolipoma10.1MITF, TYR
37cleft palate10.1PAX3, SNAI2
38duchenne muscular dystrophy10.0
39hypogonadotropism10.0
40renal agenesis10.0
41down syndrome10.0
42meningocele10.0
43cleft lip10.0
44syndactyly10.0
45crest syndrome10.0
46amblyopia10.0
47exotropia10.0
48hypogonadism10.0
49muscular dystrophy10.0
50albinism deafness syndrome10.0

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



Diseases related to waardenburg's syndrome

Symptoms for Waardenburg's Syndrome

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Clinical features from OMIM:

611584,193510,608890,148820,613266,277580,613265,193500

Drugs & Therapeutics for Waardenburg's Syndrome

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Drug clinical trials:

Search ClinicalTrials for Waardenburg's Syndrome

Search NIH Clinical Center for Waardenburg's Syndrome

Genetic Tests for Waardenburg's Syndrome

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Anatomical Context for Waardenburg's Syndrome

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MalaCards organs/tissues related to Waardenburg's Syndrome:

32
Eye, Skin, Bone, Pituitary, Neutrophil

Animal Models for Waardenburg's Syndrome or affiliated genes

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Publications for Waardenburg's Syndrome

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Articles related to Waardenburg's Syndrome:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. (21526624)
2010
2
Open angle glaucoma as a manifestation of Waardenburg's syndrome. (11271935)
2000
3
Waardenburg's syndrome a rare entity. (23119554)
1999
4
Partial anodontia in a case of Waardenburg's syndrome. (10605569)
1999
5
Atypical presentation of Waardenburg's syndrome type II. (10229606)
1999
6
Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease? (10190061)
1999
7
Waardenburg's syndrome and pituitary tumor. (7887168)
1994
8
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (1347149)
1992
9
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. (1636383)
1992
10
Waardenburg's syndrome. Report of a case with nasal atresia. (1947889)
1991
11
Hearing loss and Waardenburg's syndrome: implications for genetic counselling. (2324631)
1990
12
Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome). (2503803)
1989
13
Genetic heterogeneity in Waardenburg's syndrome. (2738907)
1989
14
Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? (3288381)
1988
15
The eyes have it: Waardenburg's syndrome. (3468364)
1986
16
Pigment distribution in Waardenburg's syndrome: a new hypothesis. (3792843)
1986
17
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. (3952027)
1986
18
Temporal bone involvement in Waardenburg's syndrome. (4042918)
1985
19
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. (6335502)
1984
20
Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. (6332792)
1984
21
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome. (7305423)
1981
22
Waardenburg's syndrome: the need for family investigation and genetic counselling. (7280541)
1981
23
Waardenburg's syndrome and Hirschsprung's disease in the same patient. (7418259)
1980
24
Waardenburg's syndrome. (7401140)
1980
25
A possible animal model for Waardenburg's syndrome. (468455)
1979
26
Waardenburg's syndrome. (519746)
1979
27
Waardenburg's syndrome. (417897)
1978
28
Audiometric findings in 34 patients with Waardenburg's syndrome. (408454)
1977
29
Waardenburg's syndrome in a girl. (1150316)
1975
30
The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome. (4823082)
1974
31
Waardenburg's syndrome. Identification of patients. (4726720)
1973
32
Waardenburg's syndrome in two siblings and their parents. (5144909)
1971
33
Waardenburg's syndrome in an African child. (5444872)
1970
34
Waardenburg's syndrome. (5801408)
1969
35
Hypertelorism and Waardenburg's syndrome. (5801819)
1969
36
Medial canthoplasty in a child with Waardenburg's syndrome. Case report. (5791340)
1969
37
A Chinese family with Waardenburg's syndrome. (4966266)
1968
38
Vestibular function and additional findings in Waardenburg's syndrome. (4870323)
1968
39
Waardenburg's syndrome. (5658623)
1968
40
Waardenburg's Syndrome in an Indian family. (5589484)
1967
41
Waardenburg's syndrome. Report of a family. (6060805)
1967
42
Waardenburg's syndrome with fundus and other anomalies. (4958935)
1966
43
WAARDENBURG'S SYNDROME: REPORT OF A PEDIGREE. (14269024)
1965
44
WAARDENBURG'S SYNDROME: THE RISK OF RECURRENCE OF CONGENITAL DEAFNESS IN A KINDRED. (14339408)
1965
45
WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY. (14299408)
1965
46
WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES. (14124244)
1964
47
Waardenburg's syndrome. (13947542)
1962
48
WAARDENBURG'S SYNDROME. (18170706)
1961
49
Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects. (13722846)
1960
50
An English family with Waardenburg's syndrome. (13650669)
1959

Variations for Waardenburg's Syndrome

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Clinvar genetic disease variations for Waardenburg's Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
2PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
3PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
4PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)single nucleotide variantPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851

Expression for genes affiliated with Waardenburg's Syndrome

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Expression patterns in normal tissues for genes affiliated with Waardenburg's Syndrome

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

Pathways for genes affiliated with Waardenburg's Syndrome

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Pathways related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7MITF, PAX3
29.6PAX3, SOX10
39.4EDNRB, EDN3
4
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.2SNAI2, MITF
59.2SNAI2, MITF
69.2SOX10, PAX3, MITF
7
Show member pathways
8.9MITF, TYR, EDNRB
88.4SNAI2, MITF, PAX3, SOX10

Compounds for genes affiliated with Waardenburg's Syndrome

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 61Tocris Bioscience
See all sources

Compounds related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1kojic acid449.9MITF, TYR
2bq610449.7EDNRB, EDN3
3pd 142893449.7EDNRB, EDN3
4bq 302044 2810.7EDNRB, EDN3
5hmba449.7MITF, TYR
6irl 162044 2810.7EDNRB, EDN3
7fr13931744 2810.7EDNRB, EDN3
8sarafotoxin449.7EDNRB, EDN3
9tezosentan449.7EDNRB, EDN3
10bq78844 2810.6EDNRB, EDN3
11bosentan44 1110.6EDN3, EDNRB
12levodopa44 1110.5TYR, EDN3
13phosphoramidon44 1110.5EDN3, EDNRB
14phenylephrine44 28 24 1112.4EDN3, TYR
15dopachrome449.4MITF, SOX10, TYR
16bq12344 2810.2TYR, EDN3, EDNRB
17indomethacin44 28 61 1112.0EDNRB, EDN3, TYR
18aspartate448.9TYR, EDN3, EDNRB
19arginine448.7MITF, TYR, EDN3, EDNRB
20glutamate448.6EDNRB, EDN3, TYR, MITF
21adenylate448.6TYR, EDN3, EDNRB
22tyrosine447.6EDNRB, EDN3, TYR, PAX3, MITF, SNAI2

GO Terms for genes affiliated with Waardenburg's Syndrome

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Biological processes related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:0148269.5EDN3, EDNRB
2vasoconstrictionGO:0423109.5EDN3, EDNRB
3enteric nervous system developmentGO:0484849.4EDNRB, SOX10
4peripheral nervous system developmentGO:0074229.3SOX10, EDNRB
5positive regulation of cell proliferationGO:0082849.0EDNRB, EDN3, PAX3
6negative regulation of canonical Wnt signaling pathwayGO:0900908.8SNAI2, SOX10
7neural crest cell migrationGO:0017558.7EDNRB, EDN3, SOX10, PAX3
8negative regulation of transcription from RNA polymerase II promoterGO:0001228.7SNAI2, PAX3, EDNRB
9melanocyte differentiationGO:0303188.7MITF, SOX10, EDN3, EDNRB

Molecular functions related to Waardenburg's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036828.4SNAI2, MITF, PAX3, SOX10
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037058.1SNAI2, MITF, PAX3, SOX10

Products for genes affiliated with Waardenburg's Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Waardenburg's Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet