WS2-OA
MCID: ALB023
MIFTS: 31

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 58 30 6 74
Waardenburg Syndrome/albinism, Digenic 58 13
Ws2-Oa 58 76
Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive; Ws2-Oa 58
Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive 58
Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive 76
Albinism, Ocular, with Late-Onset Sensorineural Deafness 74
Ocular Albinism with Congenital Sensorineural Deafness 60
Waardenburg Syndrome Type 2 with Ocular Albinism 60
Albinism, Ocular, with Sensorineural Deafness ) 41
Waardenburg Syndrome/ocular Albinism, Digenic 58
Albinism Ocular with Sensorineural Deafness 76
Ocular Albinism and Sensorineural Deafness 13

Characteristics:

Orphanet epidemiological data:

60
ocular albinism with congenital sensorineural deafness
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant form
also x-linked


HPO:

33
albinism, ocular, with sensorineural deafness:
Inheritance x-linked inheritance autosomal dominant inheritance


Classifications:



Summaries for Albinism, Ocular, with Sensorineural Deafness

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include skin and eye, 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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 sensorineural hearing impairment 33 HP:0000407
3 visual impairment 33 HP:0000505
4 photophobia 33 HP:0000613
5 strabismus 33 HP:0000486
6 reduced visual acuity 33 HP:0007663
7 multiple lentigines 33 HP:0001003
8 ocular albinism 33 HP:0001107
9 giant melanosomes in melanocytes 33 HP:0005592
10 hypoplasia of the fovea 33 HP:0007750
11 hypopigmentation of the skin 33 HP:0001010
12 hypermetropia 33 HP:0000540
13 optic nerve dysplasia 33 HP:0001093
14 vestibular hypofunction 33 HP:0001756

Symptoms via clinical synopsis from OMIM:

58
Eyes:
nystagmus
photophobia
strabismus
reduced visual acuity
hypermetropia
more
Skin:
hypomelanosis
lentigines

Ears:
vestibular hypofunction
deafness

Lab:
macromelanosomes

Clinical features from OMIM:

103470

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 30 MITF TYR

Anatomical Context for Albinism, Ocular, with Sensorineural Deafness

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

42
Skin, Eye

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 GRCh37 Chromosome 11, 88961072: 88961072
2 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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