WS2-OA
MCID: ALB023
MIFTS: 32

Albinism, Ocular, with Sensorineural Deafness (WS2-OA)

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

Aliases & Classifications for Albinism, Ocular, with Sensorineural Deafness

MalaCards integrated aliases for Albinism, Ocular, with Sensorineural Deafness:

Name: Albinism, Ocular, with Sensorineural Deafness 57 29 6 73
Waardenburg Syndrome/albinism, Digenic 57 13
Ws2-Oa 57 75
Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive; Ws2-Oa 57
Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive 57
Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive 75
Albinism, Ocular, with Late-Onset Sensorineural Deafness 73
Ocular Albinism with Congenital Sensorineural Deafness 59
Waardenburg Syndrome Type 2 with Ocular Albinism 59
Albinism, Ocular, with Sensorineural Deafness ) 40
Waardenburg Syndrome/ocular Albinism, Digenic 57
Albinism Ocular with Sensorineural Deafness 75
Ocular Albinism and Sensorineural Deafness 13

Characteristics:

Orphanet epidemiological data:

59
ocular albinism with congenital sensorineural deafness
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant form
also x-linked


HPO:

32
albinism, ocular, with sensorineural deafness:
Inheritance x-linked inheritance autosomal dominant inheritance


Classifications:



Summaries for Albinism, Ocular, with Sensorineural Deafness

UniProtKB/Swiss-Prot : 75 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 : Albinism, Ocular, with Sensorineural Deafness, also known as waardenburg syndrome/albinism, digenic, is related to albinism, ocular, with late-onset sensorineural deafness and albinism. An important gene associated with Albinism, Ocular, with Sensorineural Deafness is TYR (Tyrosinase), and among its related pathways/superpathways is Cushing syndrome. Affiliated tissues include skin, eye and breast, and related phenotypes are nystagmus and sensorineural hearing impairment

Description from OMIM: 103470

Related Diseases for Albinism, Ocular, with Sensorineural Deafness

Graphical network of the top 20 diseases related to Albinism, Ocular, with Sensorineural Deafness:



Diseases related to Albinism, Ocular, with Sensorineural Deafness

Symptoms & Phenotypes for Albinism, Ocular, with Sensorineural Deafness

Symptoms via clinical synopsis from OMIM:

57
Eyes:
nystagmus
photophobia
strabismus
reduced visual acuity
hypermetropia
more
Skin:
hypomelanosis
lentigines

Ears:
vestibular hypofunction
deafness

Lab:
macromelanosomes


Clinical features from OMIM:

103470

Human phenotypes related to Albinism, Ocular, with Sensorineural Deafness:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 sensorineural hearing impairment 32 HP:0000407
3 visual impairment 32 HP:0000505
4 photophobia 32 HP:0000613
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

Drugs & Therapeutics for Albinism, Ocular, with Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Albinism, Ocular, with Sensorineural Deafness

Genetic Tests for Albinism, Ocular, with Sensorineural Deafness

Genetic tests related to Albinism, Ocular, with Sensorineural Deafness:

# Genetic test Affiliating Genes
1 Albinism, Ocular, with Sensorineural Deafness 29 MITF TYR

Anatomical Context for Albinism, Ocular, with Sensorineural Deafness

MalaCards organs/tissues related to Albinism, Ocular, with Sensorineural Deafness:

41
Skin, Eye, Breast

Publications for Albinism, Ocular, with Sensorineural Deafness

Articles related to Albinism, Ocular, with Sensorineural Deafness:

# Title Authors Year
1
X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. ( 8288253 )
1993

Variations for Albinism, Ocular, with Sensorineural Deafness

ClinVar genetic disease variations for Albinism, Ocular, with Sensorineural Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
2 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
3 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
4 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984

Expression for Albinism, Ocular, with Sensorineural Deafness

Search GEO for disease gene expression data for Albinism, Ocular, with Sensorineural Deafness.

Pathways for Albinism, Ocular, with Sensorineural Deafness

Pathways related to Albinism, Ocular, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 MITF TYR

GO Terms for Albinism, Ocular, with Sensorineural Deafness

Biological processes related to Albinism, Ocular, with Sensorineural Deafness according to GeneCards Suite gene sharing:

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

Sources for Albinism, Ocular, with Sensorineural Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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