WS2-OA
MCID: WRD021
MIFTS: 27

Waardenburg Syndrome/ocular Albinism, Digenic (WS2-OA) malady

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

Aliases & Classifications for Waardenburg Syndrome/ocular Albinism, Digenic

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

Name: Waardenburg Syndrome/ocular Albinism, Digenic 54
Waardenburg Syndrome/albinism, Digenic 54 24 13
Ws2-Oa 24 66
Waardenburg Syndrome Type 2, with Ocular Albinism, Autosomal Recessive 24
Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive 66
Albinism, Ocular, with Late-Onset Sensorineural Deafness 69
Ocular Albinism with Congenital Sensorineural Deafness 56
Waardenburg Syndrome Type 2 with Ocular Albinism 56
Albinism, Ocular, with Sensorineural Deafness 69
Albinism Ocular with Sensorineural Deafness 66
Ocular Albinism and Sensorineural Deafness 13

Characteristics:

Orphanet epidemiological data:

56
ocular albinism with congenital sensorineural deafness
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
waardenburg syndrome/ocular albinism, digenic:
Inheritance autosomal dominant inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 103470
Orphanet 56 ORPHA352740
ICD10 via Orphanet 34 E70.3
MedGen 40 C1863198
MeSH 42 D014849

Summaries for Waardenburg Syndrome/ocular Albinism, Digenic

UniProtKB/Swiss-Prot : 66 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 photophobia, nystagmus and sensorineural hearing impairment. An important gene associated with Waardenburg Syndrome/ocular Albinism, Digenic is TYR (Tyrosinase), and among its related pathways/superpathways is Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. Affiliated tissues include skin and eye, and related phenotypes are hearing/vestibular/ear and pigmentation

Description from OMIM: 103470

Related Diseases for Waardenburg Syndrome/ocular Albinism, Digenic

Graphical network of the top 20 diseases related to Waardenburg Syndrome/ocular Albinism, Digenic:



Diseases related to Waardenburg Syndrome/ocular Albinism, Digenic

Symptoms & Phenotypes for Waardenburg Syndrome/ocular Albinism, Digenic

Symptoms by clinical synopsis from OMIM:

103470

Clinical features from OMIM:

103470

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

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 nystagmus 32 HP:0000639
3 sensorineural hearing impairment 32 HP:0000407
4 visual impairment 32 HP:0000505
5 strabismus 32 HP:0000486
6 reduced visual acuity 32 HP:0007663
7 multiple lentigines 32 HP:0001003
8 ocular albinism 32 HP:0001107
9 giant melanosomes in melanocytes 32 HP:0005592
10 hypoplasia of the fovea 32 HP:0007750
11 hypopigmentation of the skin 32 HP:0001010
12 hypermetropia 32 HP:0000540
13 optic nerve dysplasia 32 HP:0001093
14 vestibular hypofunction 32 HP:0001756

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 MITF TYR
2 pigmentation MP:0001186 8.62 MITF TYR

Drugs & Therapeutics for Waardenburg Syndrome/ocular Albinism, Digenic

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

Genetic Tests for Waardenburg Syndrome/ocular Albinism, Digenic

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

id Genetic test Affiliating Genes
1 Waardenburg Syndrome/albinism, Digenic 24 TYR

Anatomical Context for Waardenburg Syndrome/ocular Albinism, Digenic

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

39
Skin, Eye

Publications for Waardenburg Syndrome/ocular Albinism, Digenic

Variations for Waardenburg Syndrome/ocular Albinism, Digenic

Expression for Waardenburg Syndrome/ocular Albinism, Digenic

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

Pathways for Waardenburg Syndrome/ocular Albinism, Digenic

Pathways related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.98 MITF TYR

GO Terms for Waardenburg Syndrome/ocular Albinism, Digenic

Biological processes related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 8.62 MITF TYR

Sources for Waardenburg Syndrome/ocular Albinism, Digenic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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