WS2-OA
MCID: ALB023
MIFTS: 30

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

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, 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

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, Breast

Publications for Albinism, Ocular, with Sensorineural Deafness

Variations for Albinism, Ocular, with Sensorineural Deafness

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

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh38 Chromosome 11, 89178117: 89178117
2 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh37 Chromosome 11, 88911285: 88911285
3 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh38 Chromosome 11, 89284805: 89284805
4 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
5 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh38 Chromosome 11, 89227933: 89227933
6 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh37 Chromosome 11, 88961101: 88961101
7 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
8 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
9 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic/Likely pathogenic rs104894314 GRCh38 Chromosome 11, 89191205: 89191205
10 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic/Likely pathogenic rs104894314 GRCh37 Chromosome 11, 88924373: 88924373
11 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh38 Chromosome 11, 89177954: 89177954
12 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
13 TYR NM_000372.4(TYR): c.649C> T (p.Arg217Trp) single nucleotide variant Likely pathogenic rs63159160 GRCh38 Chromosome 11, 89178602: 89178602
14 TYR NM_000372.4(TYR): c.649C> T (p.Arg217Trp) single nucleotide variant Likely pathogenic rs63159160 GRCh37 Chromosome 11, 88911770: 88911770
15 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61753180 GRCh38 Chromosome 11, 89178093: 89178093
16 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61753180 GRCh37 Chromosome 11, 88911261: 88911261
17 TYR NM_000372.4(TYR): c.915C> A (p.Asp305Glu) single nucleotide variant Uncertain significance rs142170797 GRCh37 Chromosome 11, 88924465: 88924465
18 TYR NM_000372.4(TYR): c.915C> A (p.Asp305Glu) single nucleotide variant Uncertain significance rs142170797 GRCh38 Chromosome 11, 89191297: 89191297
19 TYR NM_000372.4(TYR): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs62645904 GRCh38 Chromosome 11, 89191214: 89191214
20 TYR NM_000372.4(TYR): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs62645904 GRCh37 Chromosome 11, 88924382: 88924382
21 TYR NM_000372.4(TYR): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs61753256 GRCh38 Chromosome 11, 89178299: 89178299
22 TYR NM_000372.4(TYR): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs61753256 GRCh37 Chromosome 11, 88911467: 88911467
23 TYR NM_000372.4(TYR): c.1366+4A> G single nucleotide variant Uncertain significance rs61754398 GRCh38 Chromosome 11, 89284958: 89284958
24 TYR NM_000372.4(TYR): c.1366+4A> G single nucleotide variant Uncertain significance rs61754398 GRCh37 Chromosome 11, 89018126: 89018126
25 TYR NM_000372.4(TYR): c.1199G> T (p.Trp400Leu) single nucleotide variant Pathogenic/Likely pathogenic rs62645916 GRCh38 Chromosome 11, 89284787: 89284787
26 TYR NM_000372.4(TYR): c.1199G> T (p.Trp400Leu) single nucleotide variant Pathogenic/Likely pathogenic rs62645916 GRCh37 Chromosome 11, 89017955: 89017955
27 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
28 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

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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