MCID: WRD021
MIFTS: 28

Waardenburg Syndrome/ocular Albinism, Digenic malady

Eye diseases, Metabolic diseases, Rare diseases, Ear diseases categories

Summaries for Waardenburg Syndrome/ocular Albinism, Digenic

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MalaCards based summary: Waardenburg Syndrome/ocular Albinism, Digenic, also known as ocular albinism with congenital sensorineural deafness, is related to ocular albinism and melanoma, cutaneous malignant 8, and has symptoms including autosomal dominant inheritance, hearing impairment and strabismus. An important gene associated with Waardenburg Syndrome/ocular Albinism, Digenic is MITF (microphthalmia-associated transcription factor), and among its related pathways is Basal cell carcinoma. The compounds kojic acid and dopachrome have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and vision/eye.

Description from OMIM:46 103470

Aliases & Classifications for Waardenburg Syndrome/ocular Albinism, Digenic

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Waardenburg Syndrome/ocular Albinism, Digenic, Aliases & Descriptions:

Name: Waardenburg Syndrome/ocular Albinism, Digenic 46
Ocular Albinism with Congenital Sensorineural Deafness 48
 
Waardenburg Syndrome Type 2 with Ocular Albinism 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Rare diseases
Anatomical: Eye diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
ocular albinism with congenital sensorineural deafness:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 103470

Related Diseases for Waardenburg Syndrome/ocular Albinism, Digenic

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Diseases related to Waardenburg Syndrome/ocular Albinism, Digenic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1ocular albinism10.3TYR
2melanoma, cutaneous malignant 810.0MITF, TYR
3pigmentation disease10.0MITF, TYR
4waardenburg's syndrome10.0MITF, TYR
5angiomyolipoma10.0TYR, MITF
6vitiligo10.0TYR, MITF
7uveal melanoma10.0MITF, TYR
8neurilemmoma9.9TYR, MITF
9microphthalmia9.9TYR, MITF
10skin disease9.9TYR, MITF
11kidney cancer9.9TYR, MITF
12melanoma9.9TYR, MITF
13retinoblastoma9.8TYR, MITF
14burkitt's lymphoma9.8MITF, TYR

Graphical network of diseases related to Waardenburg Syndrome/ocular Albinism, Digenic:



Diseases related to waardenburg syndrome/ocular albinism, digenic

Symptoms for Waardenburg Syndrome/ocular Albinism, Digenic

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Symptoms by clinical synopsis from OMIM:

103470

Clinical features from OMIM:

103470

HPO human phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hearing impairment HP:0000365
3 strabismus HP:0000486
4 visual impairment HP:0000505
5 hypermetropia HP:0000540
6 photophobia HP:0000613
7 nystagmus HP:0000639
8 multiple lentigines HP:0001003
9 hypopigmentation of the skin HP:0001010
10 optic nerve dysplasia HP:0001093
11 x-linked inheritance HP:0001417
12 vestibular hypofunction HP:0001756
13 giant melanosomes in melanocytes HP:0005592
14 hypoplasia of the fovea HP:0007750

Drugs & Therapeutics for Waardenburg Syndrome/ocular Albinism, Digenic

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Drug clinical trials:

Search ClinicalTrials for Waardenburg Syndrome/ocular Albinism, Digenic

Search NIH Clinical Center for Waardenburg Syndrome/ocular Albinism, Digenic

Genetic Tests for Waardenburg Syndrome/ocular Albinism, Digenic

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Anatomical Context for Waardenburg Syndrome/ocular Albinism, Digenic

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MalaCards organs/tissues related to Waardenburg Syndrome/ocular Albinism, Digenic:

32
Eye

Animal Models for Waardenburg Syndrome/ocular Albinism, Digenic or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1MITF, TYR
2MP:00053919.1MITF, TYR
3MP:00053719.0MITF, TYR
4MP:00030128.8MITF, TYR

Publications for Waardenburg Syndrome/ocular Albinism, Digenic

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Variations for Waardenburg Syndrome/ocular Albinism, Digenic

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Expression for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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Expression patterns in normal tissues for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

Search GEO for disease gene expression data for Waardenburg Syndrome/ocular Albinism, Digenic.

Pathways for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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Pathways related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MITF, TYR

Compounds for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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Sources:
44Novoseek, 25HMDB
See all sources

Compounds related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1kojic acid449.3MITF, TYR
2dopachrome449.2MITF, TYR
3hmba449.2MITF, TYR
4paraffin449.1TYR, MITF
5oxygen44 2510.1MITF, TYR
6arginine449.0MITF, TYR
7glutamate448.8MITF, TYR

GO Terms for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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Products for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Waardenburg Syndrome/ocular Albinism, Digenic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet