OA
MCID: OCL001
MIFTS: 42

Ocular Albinism (OA) malady

Summaries for Ocular Albinism

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.

MalaCards: Ocular Albinism, also known as degenerative polyarthritis, is related to albinism and aland island eye disease. An important gene associated with Ocular Albinism is GPR143 (G protein-coupled receptor 143). The drugs aspirin and chondroitin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin.

Description from OMIM:46 300500

Aliases & Classifications for Ocular Albinism

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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM
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Aliases & Descriptions:

ocular albinism 8 21 10
degenerative polyarthritis 60
albinism, ocular 21
albinism ocular 44
xloa 21
oa 21


External Ids:

Disease Ontology8 DOID:0050633
OMIM46 300500

Related Diseases for Ocular Albinism

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ocular Albinism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1albinism31.6GPR143
2aland island eye disease30.5CACNA1F, NYX
3microphthalmia30.4HCCS, MITF
4kallmann syndrome30.2VCX2, VCX3A, VCX
5ocular albinism, x-linked11.0
6osteoarthritis10.6
7ocular albinism, type i, nettleship-falls type10.5
8oculocutaneous albinism10.4
9albinism ocular late onset sensorineural deafness10.4
10waardenburg syndrome/ocular albinism, digenic10.3
11neuronitis10.3
12arthritis10.2
13rheumatoid arthritis10.2
14anophthalmos with limb anomalies10.2
15retinitis10.2
16oculocutaneous albinism type 110.2
17oculocutaneous albinism type 210.2
18griscelli syndrome type 110.2
19enthesopathy10.1
20burns10.0
21chediak-higashi syndrome10.0
22dyskeratosis congenita10.0
23congenital ichthyosiform erythroderma10.0
24keratoconjunctivitis sicca10.0
25aniridia10.0
26noonan syndrome10.0
27waardenburg's syndrome10.0
28duchenne muscular dystrophy10.0
29congenital nystagmus10.0
30prader-willi syndrome10.0
31congenital muscular dystrophy10.0
32diabetes mellitus10.0
33ectropion10.0
34eye disease10.0
35hematologic cancer10.0
36keratoconjunctivitis10.0
37melanoma10.0
38muscular dystrophy10.0
39skin disease10.0
40microphthalmia with linear skin defects syndrome10.0
41oculocutaneous albinism type 410.0
42oculocutaneous albinism type 310.0
43oculocutaneous albinism type 1b10.0
44microcephaly-albinism-digital anomalies syndrome10.0
45oculocerebral syndrome with hypopigmentation10.0
46ermine phenotype10.0
47griscelli syndrome type 210.0
48griscelli syndrome type 310.0
49infantile free sialic acid storage disease10.0
50nystagmus 1, congenital, x- linked10.0

Graphical network of the top 20 diseases related to Ocular Albinism:



Diseases related to ocular albinism

Clinical Features for Ocular Albinism

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46OMIM
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Clinical features from OMIM:

300500

Drugs & Therapeutics for Ocular Albinism

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Ocular Albinism

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Anatomical Context for Ocular Albinism

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32MalaCards
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MalaCards organs/tissues related to Ocular Albinism:

32
Eye, Retina, Skin, Testes, Brain

Animal Models for Ocular Albinism or affiliated genes

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Publications for Ocular Albinism

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Sources:
50PubMed
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Articles related to Ocular Albinism:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. (22916221)
2012
2
Ocular straylight in albinism. (21358444)
2011
3
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. (20806075)
2010
4
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. (20649618)
2010
5
Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular. (19320034)
2009
6
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. (19938076)
2009
7
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. (19208379)
2009
8
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. (19604113)
2009
9
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. (20006830)
2009
10
X-Linked ocular albinism; Nettleship-Falls ocular albinism. (18627740)
2008
11
New mutations identified in the ocular albinism type 1 gene. (17822861)
2007
12
Identification of two novel mutations in families with X-linked ocular albinism. (17960122)
2007
13
The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism. (17651735)
2007
14
The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (16303920)
2005
15
Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. (16023414)
2005
16
Ocular albinism with sensorineural deafness. (15090016)
2004
17
Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis. (11260525)
2001
18
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. (10768343)
2000
19
Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. (11095635)
2000
20
Ocular albinism: evidence for a defect in an intracellular signal transduction system. (10471510)
1999
21
Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism. (10503922)
1999
22
OA1 mutations and deletions in X-linked ocular albinism. (9529334)
1998
23
Utility of linked markers in genetic counseling: estimation of carrier risks in X-linked ocular albinism. (9129743)
1997
24
Electronystagmographic investigation in X-linked ocular albinism. (9457752)
1997
25
Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. (8921399)
1996
26
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. (8634705)
1995
27
X linked ocular albinism in Japanese patients. (7696233)
1995
28
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. (7704033)
1995
29
Carrier detection in X linked ocular albinism using linked DNA polymorphisms. (7918264)
1994
30
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. (7915878)
1994
31
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). (8069311)
1994
32
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. (8302318)
1994
33
Ocular albinism with unilateral sectorial pigmentation in the fundus. (8025080)
1994
34
Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. (8025067)
1994
35
Ocular Albinism, X-Linked (20301517)
1993
36
Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. (8486368)
1993
37
Linkage analysis in X-linked ocular albinism. (1674724)
1991
38
Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. (2280973)
1990
39
Ocular albinism. (3337686)
1988
40
Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report. (3785879)
1986
41
Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. (6544763)
1984
42
Optic and otic neurologic abnormalities in oculocutaneous and ocular albinism. (6756499)
1982
43
Inversion of direction-selectivity to anterior fields in neurons of nucleus of the optic tract in rabbits with ocular albinism. (7272756)
1981
44
Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. (687204)
1978
45
X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. (985163)
1976
46
Ocular albinism in Newfoundland. (5125647)
1971
47
X-linked ocular albinism. (5173146)
1971
48
Ocular albinism and Xg. (4182201)
1969
49
CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES. (14060100)
1963
50
On recognizability of latent conductors of universal albinism and of ocular albinism. (18910132)
1948

Genetic Variations for Ocular Albinism

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Expression for genes affiliated with Ocular Albinism

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ocular Albinism

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Pathways for genes affiliated with Ocular Albinism

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Compounds for genes affiliated with Ocular Albinism

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GO Terms for genes affiliated with Ocular Albinism

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16Gene Ontology
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Biological processes related to Ocular Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:04301010.3MITF, SHROOM2
2melanosome organizationGO:03243810.2GPR143, SHROOM2
3visual perceptionGO:0076019.9NYX, GPR143, CACNA1F

Products for genes affiliated with Ocular Albinism

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Sources for Ocular Albinism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet