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, Brain, Testes

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
Albinism: particular attention to the ocular motor system. (24014991)
2013
2
Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. (23882993)
2013
3
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. (24301936)
2013
4
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. (21274678)
2010
5
The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition. (19717472)
2009
6
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. (19139336)
2009
7
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. (19123159)
2009
8
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. (18697795)
2008
9
Images in clinical medicine. Horizontal pendular nystagmus in a patient with ocular albinism. (18669422)
2008
10
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. (17920058)
2007
11
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
12
Eight previously unidentified mutations found in the OA1 ocular albinism gene. (16646960)
2006
13
Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae. (16154128)
2006
14
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. (16550551)
2006
15
Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. (16323556)
2005
16
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. (15254223)
2004
17
Mutational analysis of the OA1 gene in ocular albinism. (12868035)
2003
18
X-linked ocular albinism: fundus of a heterozygous female. (12824848)
2003
19
Ocular albinism type 1: more than meets the eye. (11549106)
2001
20
X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. (11405065)
2001
21
The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution. (11775061)
2001
22
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
23
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. (11115845)
2000
24
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. (11092754)
2000
25
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). (9158138)
1997
26
Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) (9457748)
1997
27
Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation. (9332664)
1997
28
Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. (8889556)
1996
29
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. (8799153)
1996
30
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. (7647783)
1995
31
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. (7795590)
1995
32
Genetic mapping of X linked ocular albinism: linkage analysis in British families. (1355560)
1992
33
Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? (1632442)
1992
34
Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. (1426406)
1992
35
Dyschromatosis universalis with X-linked ocular albinism. (1806318)
1991
36
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. (2159212)
1990
37
An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. (2573275)
1989
38
Iris pigment mosaicism in carriers of X-linked ocular albinism cum pigmento. (2923159)
1989
39
Macromelanosomes in X-linked ocular albinism (XLOA). (2578709)
1985
40
Genetic studies of ocular albinism in a large Virginia kindred. (6703591)
1984
41
X-linked inheritance of ocular albinism with late-onset sensorineural deafness. (6542750)
1984
42
X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. (7296358)
1981
43
Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism. (7398111)
1980
44
X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. (1085370)
1976
45
Partial ocular albinism in Mystromys albicaudatus (the African white-tailed rat). An electron microscopic study. (5015224)
1972
46
Nystagmus in a female carrier of ocular albinism. (5025477)
1972
47
Ocular albinism in a female. (5032699)
1972
48
Ocular albinism and Xg. (4102999)
1971
49
Ocular albinism with report of a family with female carriers. (13898629)
1961
50
Ocular albinism with changes typical of carriers. (13396158)
1956

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