OASD
MCID: ALB025
MIFTS: 37

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 73
Ocular Albinism with Sensorineural Deafness 57 12 53 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 73
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:

OMIM 57 300650
Disease Ontology 12 DOID:0090100
ICD10 33 E70.3
Orphanet 59 ORPHA1000
MESH via Orphanet 45 C537043
UMLS via Orphanet 74 C1845069
ICD10 via Orphanet 34 E70.3
MedGen 42 C1845069

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: 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 Cushing syndrome and Neural Crest Differentiation. Affiliated tissues include eye, skin and breast, 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 30.0 MITF TYR
4 perrault syndrome 1 11.1
5 hermansky-pudlak syndrome 1 10.0 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 9.9 MITF TYR
11 waardenburg syndrome type 4 9.9 MITF SOX10
12 hermansky-pudlak syndrome 3 9.9 MITF TYR
13 waardenburg syndrome, type 2e 9.9 MITF SOX10
14 albinism, oculocutaneous, type iv 9.9 MITF TYR
15 waardenburg syndrome, type 3 9.9 MITF SOX10
16 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9 MITF TYR
17 waardenburg syndrome, type 4b 9.9 MITF SOX10
18 cochlear disease 9.9 MITF SOX10
19 waardenburg syndrome, type 4a 9.9 MITF SOX10
20 angiomyolipoma 9.9 MITF TYR
21 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 MITF SOX10
22 piebald trait 9.8 MITF TYR
23 skin melanoma 9.8 MITF TYR
24 neurofibroma 9.8 MITF SOX10
25 melanoma, uveal 9.8 MITF TYR
26 hirschsprung disease 1 9.7 MITF SOX10
27 malignant spindle cell melanoma 9.7 MITF SOX10 TYR
28 breast angiosarcoma 9.7 MITF SOX10 TYR
29 tietz albinism-deafness syndrome 9.7 MITF SOX10 TYR
30 waardenburg syndrome, type 2a 9.7 MITF SOX10 TYR
31 waardenburg syndrome, type 1 9.7 MITF SOX10 TYR
32 dyschromatosis symmetrica hereditaria 9.7 MITF SOX10 TYR
33 waardenburg's syndrome 9.7 MITF SOX10 TYR
34 microphthalmia 9.7 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

Symptoms via clinical synopsis from OMIM:

57
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

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 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
6 ocular albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001107
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

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, Skin, Breast

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
Show member pathways
11.56 MITF TYR
2 10.96 MITF SOX10
3 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

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 MITF SOX10

Sources for Albinism, Ocular, with Late-Onset 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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