OASD
MCID: ALB025
MIFTS: 35

Albinism, Ocular, with Late-Onset Sensorineural Deafness (OASD)

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

Aliases & Classifications for Albinism, Ocular, with Late-Onset Sensorineural Deafness

MalaCards integrated aliases for Albinism, Ocular, with Late-Onset Sensorineural Deafness:

Name: Albinism, Ocular, with Late-Onset Sensorineural Deafness 58 74
Ocular Albinism with Sensorineural Deafness 58 12 54 15
Deafness and Ocular Albinism 58 54
Oasd 58 54
Autosomal Recessive Waardenburg Syndrome Type 2 with Ocular Albinism 12
Ocular Albinism with Late-Onset Sensorineural Deafness 60
Albinism Ocular Late Onset Sensorineural Deafness 54
Albinism, Ocular, with Sensorineural Deafness 74
Digenic Waardenburg Syndrome/ocular Albinism 12
Digenic Waardenburg Syndrome/albinism 12
Ws2-Oa 12

Characteristics:

Orphanet epidemiological data:

60
ocular albinism with late-onset sensorineural deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
x-linked


HPO:

33
albinism, ocular, with late-onset sensorineural deafness:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090100
OMIM 58 300650
ICD10 34 E70.3
MESH via Orphanet 46 C537043
ICD10 via Orphanet 35 E70.3
UMLS via Orphanet 75 C1845069
Orphanet 60 ORPHA1000
MedGen 43 C1845069

Summaries for Albinism, Ocular, with Late-Onset Sensorineural Deafness

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1000Disease definitionOcular albinism with late-onset sensorineural deafness is a rare, X-linkedinherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Albinism, Ocular, with Late-Onset Sensorineural Deafness, also known as ocular albinism with sensorineural deafness, is related to albinism, ocular, with sensorineural deafness and albinism. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is OASD (Ocular Albinism And Sensorineural Deafness), and among its related pathways/superpathways are Neural Crest Differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include eye, and related phenotypes are nystagmus and sensorineural hearing impairment

Disease Ontology : 12 An ocular albinism characterized by ocular albinism, deafness and vestibular dysfunction that has material basis in mutations in the MITF gene on chromosome 3p13 and at least one other gene. The second gene mutation has been reported to be in the gene TYR on chromosome 11q14.3 and in the gene TYRP1 on chromosome 9p23.

Description from OMIM: 300650

Related Diseases for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Diseases in the Albinism, Ocular, with Sensorineural Deafness family:

Albinism, Ocular, with Late-Onset Sensorineural Deafness

Diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with sensorineural deafness 32.3 MITF TYR
2 albinism 30.1 MITF TYR
3 ocular albinism 29.9 MITF TYR
4 perrault syndrome 1 11.1
5 hermansky-pudlak syndrome 1 9.9 SOX10 TYR
6 pigmented basal cell carcinoma 9.9 MITF TYR
7 hypomelanosis of ito 9.9 MITF TYR
8 epithelioid cell melanoma 9.9 MITF TYR
9 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9 MITF TYR
10 dowling-degos disease 1 9.8 MITF TYR
11 waardenburg syndrome type 4 9.8 MITF SOX10
12 hermansky-pudlak syndrome 3 9.8 MITF TYR
13 waardenburg syndrome, type 2e 9.8 MITF SOX10
14 albinism, oculocutaneous, type iv 9.8 MITF TYR
15 waardenburg syndrome, type 3 9.8 MITF SOX10
16 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8 MITF TYR
17 waardenburg syndrome, type 4b 9.8 MITF SOX10
18 cochlear disease 9.8 MITF SOX10
19 waardenburg syndrome, type 4a 9.8 MITF SOX10
20 angiomyolipoma 9.8 MITF TYR
21 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.8 MITF SOX10
22 piebald trait 9.7 MITF TYR
23 skin melanoma 9.7 MITF TYR
24 neurofibroma 9.7 MITF SOX10
25 melanoma, uveal 9.7 MITF TYR
26 hirschsprung disease 1 9.6 MITF SOX10
27 malignant spindle cell melanoma 9.5 MITF SOX10 TYR
28 breast angiosarcoma 9.5 MITF SOX10 TYR
29 tietz albinism-deafness syndrome 9.5 MITF SOX10 TYR
30 waardenburg syndrome, type 2a 9.5 MITF SOX10 TYR
31 waardenburg syndrome, type 1 9.5 MITF SOX10 TYR
32 dyschromatosis symmetrica hereditaria 9.5 MITF SOX10 TYR
33 waardenburg's syndrome 9.5 MITF SOX10 TYR
34 microphthalmia 9.5 MITF TYR

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



Diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness

Symptoms & Phenotypes for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Human phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
4 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
5 ocular albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001107
6 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
7 nystagmus-induced head nodding 33 HP:0001361
8 giant melanosomes in melanocytes 33 HP:0005592
9 adult onset sensorineural hearing impairment 33 HP:0008615
10 albinism 33 HP:0001022
11 depigmented fundus 33 HP:0007680

Symptoms via clinical synopsis from OMIM:

58
Eyes:
nystagmus
photophobia
impaired vision
albino pupillary reflex
depigmented fundus
more
Skin:
normal pigmentation

Lab:
macromelanosomes on em

Head:
head nodding

Misc:
mosaic fundal pigmentation in carrier females

Ears:
late onset sensorineural deafness

Clinical features from OMIM:

300650

MGI Mouse Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.33 MITF SOX10 TYR
2 no phenotypic analysis MP:0003012 9.13 MITF SOX10 TYR
3 pigmentation MP:0001186 8.8 MITF SOX10 TYR

Drugs & Therapeutics for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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

Genetic Tests for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Anatomical Context for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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

42
Eye

Publications for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Articles related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:

# Title Authors Year
1
Ocular albinism with sensorineural deafness. ( 15090016 )
2004

Variations for Albinism, Ocular, with Late-Onset Sensorineural Deafness

Expression for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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

Pathways for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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

# Super pathways Score Top Affiliating Genes
1 10.96 MITF SOX10
2 10.24 MITF SOX10

GO Terms for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 8.96 MITF TYR
2 melanocyte differentiation GO:0030318 8.62 MITF SOX10

Sources for Albinism, Ocular, with Late-Onset 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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