MCID: WRD021
MIFTS: 34

Waardenburg Syndrome/ocular Albinism, Digenic malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Waardenburg Syndrome/ocular Albinism, Digenic

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 22GTR, 61UMLS, 62UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Waardenburg Syndrome/ocular Albinism, Digenic 46
Ocular Albinism with Sensorineural Deafness 46 9 42 22
Albinism, Ocular, with Late-Onset Sensorineural Deafness 46 61
Ocular Albinism with Late-Onset Sensorineural Deafness 42 48
Waardenburg Syndrome/albinism, Digenic 46 9
 
Albinism Ocular Late Onset Sensorineural Deafness 42
Albinism, Ocular, with Sensorineural Deafness 46
Deafness and Ocular Albinism 42
Oasd 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
ocular albinism with late-onset sensorineural deafness:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

Orphanet48 1000
UMLS via Orphanet62 C1845069
MESH via Orphanet34 C537043
ICD10 via Orphanet26 E70.3

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 sensorineural deafness, is related to ocular albinism and albinism, and has symptoms including sensorineural hearing impairment, visual impairment and photophobia. 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 paraffin have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related mouse phenotype pigmentation.

Descriptions from OMIM:46 103470,300650

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 Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1ocular albinism30.9TYR
2albinism10.4
3melanoma, cutaneous malignant 810.0TYR, MITF
4pigmentation disease9.9TYR, MITF
5waardenburg's syndrome9.9TYR, MITF
6angiomyolipoma9.9MITF, TYR
7vitiligo-associated multiple autoimmune disease susceptibility 19.9MITF, TYR
8uveal melanoma9.9TYR, MITF
9neurilemmoma9.9MITF, TYR
10microphthalmia9.9TYR, MITF
11skin disease9.8MITF, TYR
12burkitt lymphoma9.8MITF, TYR
13retinoblastoma9.8TYR, MITF
14kidney cancer9.7MITF, 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:

103470,300650

Symptoms:

 48 (show all 8)
  • retinal albinism
  • mild visual loss/impaired visual acuity
  • photophobia
  • nystagmus
  • sensorineural deafness/hearing loss
  • x-linked recessive inheritance
  • strabismus/squint
  • autosomal dominant inheritance

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

(show all 24)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 photophobia hallmark (90%) HP:0000613
4 nystagmus hallmark (90%) HP:0000639
5 ocular albinism hallmark (90%) HP:0001107
6 strabismus typical (50%) HP:0000486
7 autosomal dominant inheritance HP:0000006
8 hearing impairment HP:0000365
9 strabismus HP:0000486
10 visual impairment HP:0000505
11 hypermetropia HP:0000540
12 photophobia HP:0000613
13 nystagmus HP:0000639
14 multiple lentigines HP:0001003
15 hypopigmentation of the skin HP:0001010
16 optic nerve dysplasia HP:0001093
17 x-linked inheritance HP:0001417
18 vestibular hypofunction HP:0001756
19 giant melanosomes in melanocytes HP:0005592
20 hypoplasia of the fovea HP:0007750
21 albinism HP:0001022
22 nystagmus-induced head nodding HP:0001361
23 depigmented fundus HP:0007680
24 adult onset sensorineural hearing impairment HP:0008615

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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Genetic tests related to Waardenburg Syndrome/ocular Albinism, Digenic:

id Genetic test Affiliating Genes
1 Albinism, Ocular, with Sensorineural Deafness22

Anatomical Context for Waardenburg Syndrome/ocular Albinism, Digenic

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

31
Eye, Skin

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0MITF, 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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0MITF, TYR

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

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Sources:
44Novoseek
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Compounds related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1kojic acid449.0MITF, TYR
2paraffin449.0MITF, TYR
3dopachrome448.9MITF, TYR
4hmba448.7MITF, TYR

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

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Sources for Waardenburg Syndrome/ocular Albinism, Digenic

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet