MCID: ALB025
MIFTS: 24

Albinism, Ocular, with Late-Onset Sensorineural Deafness

Categories: Rare diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal diseases, Genetic 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
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 (OASD), is a rare, X-linkedinherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous genesyndrome.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 ocular albinism. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is OASD (Ocular Albinism And Sensorineural Deafness). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and strabismus

Disease Ontology : 12 A digenic disease 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:

# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with sensorineural deafness 11.5
2 ocular albinism 10.0
3 albinism 10.0

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 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
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 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
6 ocular albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001107
7 albinism 32 HP:0001022
8 nystagmus-induced head nodding 32 HP:0001361
9 giant melanosomes in melanocytes 32 HP:0005592
10 depigmented fundus 32 HP:0007680
11 adult onset sensorineural hearing impairment 32 HP:0008615

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 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

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

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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