OASD
MCID: ALB025
MIFTS: 32

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 57 72
Ocular Albinism with Sensorineural Deafness 57 12 53 13 15
Deafness and Ocular Albinism 57 53
Oasd 57 53
Autosomal Recessive Waardenburg Syndrome Type 2 with Ocular Albinism 12
Ocular Albinism with Late-Onset Sensorineural Deafness 59
Albinism Ocular Late Onset Sensorineural Deafness 53
Albinism, Ocular, with Sensorineural Deafness 72
Digenic Waardenburg Syndrome/ocular Albinism 12
Digenic Waardenburg Syndrome/albinism 12
Ws2-Oa 12

Characteristics:

Orphanet epidemiological data:

59
ocular albinism with late-onset sensorineural deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
x-linked


HPO:

32
albinism, ocular, with late-onset sensorineural deafness:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090100
OMIM 57 300650
ICD10 33 E70.3
MESH via Orphanet 45 C537043
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 73 C1845069
Orphanet 59 ORPHA1000
MedGen 42 C1845069
UMLS 72 C1845069 C1863198

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1000DefinitionOcular albinism with late-onset sensorineural deafness is a rare, X-linked inherited 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 that is characterized by deafness and vestibular dysfunction and has material basis in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.

More information 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 32.4 TYR MITF
2 albinism 30.0 TYR MITF
3 ocular albinism 29.7 TYR MITF
4 branchiootic syndrome 1 10.2
5 hermansky-pudlak syndrome 1 9.9 TYR SOX10
6 pigmented basal cell carcinoma 9.8 TYR MITF
7 hypomelanosis of ito 9.8 TYR MITF
8 epithelioid cell melanoma 9.8 TYR MITF
9 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8 TYR MITF
10 dowling-degos disease 1 9.7 TYR MITF
11 waardenburg syndrome type 4 9.7 SOX10 MITF
12 hermansky-pudlak syndrome 3 9.7 TYR MITF
13 waardenburg syndrome, type 2e 9.7 SOX10 MITF
14 albinism, oculocutaneous, type iv 9.7 TYR MITF
15 cochlear disease 9.7 SOX10 MITF
16 waardenburg syndrome, type 4b 9.7 SOX10 MITF
17 angiomyolipoma 9.7 TYR MITF
18 waardenburg syndrome, type 3 9.7 SOX10 MITF
19 waardenburg syndrome, type 4a 9.7 SOX10 MITF
20 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7 TYR MITF
21 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.7 SOX10 MITF
22 piebald trait 9.6 TYR MITF
23 skin melanoma 9.5 TYR MITF
24 neurofibroma 9.5 SOX10 MITF
25 melanoma, uveal 9.5 TYR MITF
26 hirschsprung disease 1 9.3 SOX10 MITF
27 malignant spindle cell melanoma 9.3 TYR SOX10 MITF
28 breast angiosarcoma 9.3 TYR SOX10 MITF
29 tietz albinism-deafness syndrome 9.3 TYR SOX10 MITF
30 waardenburg syndrome, type 2a 9.3 TYR SOX10 MITF
31 waardenburg syndrome, type 1 9.2 TYR SOX10 MITF
32 dyschromatosis symmetrica hereditaria 9.2 TYR SOX10 MITF
33 waardenburg's syndrome 9.2 TYR SOX10 MITF
34 microphthalmia 9.2 TYR MITF

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
4 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
5 ocular albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001107
6 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
7 nystagmus-induced head nodding 32 HP:0001361
8 giant melanosomes in melanocytes 32 HP:0005592
9 adult onset sensorineural hearing impairment 32 HP:0008615
10 albinism 32 HP:0001022
11 depigmented fundus 32 HP:0007680

Symptoms via clinical synopsis from OMIM:

57
Eyes:
nystagmus
photophobia
depigmented fundus
impaired vision
albino pupillary reflex
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:

46
# 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:

41
Eye

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

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

# Title Authors PMID Year
1
X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. 8
8288253 1993
2
X-linked inheritance of ocular albinism with late-onset sensorineural deafness. 8
6542750 1984
3
Ocular albinism with sensorineural deafness. 38
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 SOX10 MITF
2 10.24 SOX10 MITF

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 TYR MITF
2 melanocyte differentiation GO:0030318 8.62 SOX10 MITF

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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