MCID: WRD021
MIFTS: 24

Waardenburg Syndrome/ocular Albinism, Digenic malady

Categories: Genetic diseases, Eye diseases, Metabolic diseases, Rare diseases, Ear diseases

Aliases & Classifications for Waardenburg Syndrome/ocular Albinism, Digenic

About this section

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

Name: Waardenburg Syndrome/ocular Albinism, Digenic 51
Waardenburg Syndrome/albinism, Digenic 51 12
Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive 69
Albinism, Ocular, with Late-Onset Sensorineural Deafness 67
Ocular Albinism with Congenital Sensorineural Deafness 53
 
Waardenburg Syndrome Type 2 with Ocular Albinism 53
Albinism, Ocular, with Sensorineural Deafness 67
Albinism Ocular with Sensorineural Deafness 69
Ocular Albinism and Sensorineural Deafness 12
Ws2-Oa 69

Characteristics:

Orphanet epidemiological data:

53
ocular albinism with congenital sensorineural deafness:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
waardenburg syndrome/ocular albinism, digenic:
Inheritance: autosomal dominant inheritance, x-linked inheritance

Classifications:



External Ids:

OMIM51 103470
Orphanet53 ORPHA352740
ICD10 via Orphanet30 E70.3
MedGen36 C1863198
MeSH38 D014849

Summaries for Waardenburg Syndrome/ocular Albinism, Digenic

About this section
UniProtKB/Swiss-Prot:69 Waardenburg syndrome 2, with ocular albinism, autosomal recessive: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.

MalaCards based summary: Waardenburg Syndrome/ocular Albinism, Digenic, also known as waardenburg syndrome/albinism, digenic, is related to ocular albinism with sensorineural deafness and ocular albinism, and has symptoms including sensorineural hearing impairment, strabismus and visual impairment. An important gene associated with Waardenburg Syndrome/ocular Albinism, Digenic is TYR (Tyrosinase). Affiliated tissues include skin and eye, and related mouse phenotype pigmentation.

Description from OMIM:51 103470

Related Diseases for Waardenburg Syndrome/ocular Albinism, Digenic

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

103470

Clinical features from OMIM:

103470

Human phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:

 63 (show all 14)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment63 HP:0000407
2 strabismus63 HP:0000486
3 visual impairment63 HP:0000505
4 hypermetropia63 HP:0000540
5 photophobia63 HP:0000613
6 nystagmus63 HP:0000639
7 multiple lentigines63 HP:0001003
8 hypopigmentation of the skin63 HP:0001010
9 optic nerve dysplasia63 HP:0001093
10 ocular albinism63 HP:0001107
11 vestibular hypofunction63 HP:0001756
12 giant melanosomes in melanocytes63 HP:0005592
13 reduced visual acuity63 HP:0007663
14 hypoplasia of the fovea63 HP:0007750

Drugs & Therapeutics for Waardenburg Syndrome/ocular Albinism, Digenic

About this section

Interventional clinical trials:

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

Genetic Tests for Waardenburg Syndrome/ocular Albinism, Digenic

About this section

Anatomical Context for Waardenburg Syndrome/ocular Albinism, Digenic

About this section

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

35
Skin, Eye

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

About this section

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1MITF, TYR

Publications for Waardenburg Syndrome/ocular Albinism, Digenic

About this section

Variations for Waardenburg Syndrome/ocular Albinism, Digenic

About this section

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

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

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

About this section

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

About this section

Sources for Waardenburg Syndrome/ocular Albinism, Digenic

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet