OA
MCID: OCL001
MIFTS: 41

Ocular Albinism (OA) malady

Summaries for Ocular Albinism

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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 indomethacin and sulindac have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin.

Description from OMIM:47 300500

Aliases & Classifications for Ocular Albinism

Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM
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Aliases & Descriptions:

ocular albinism 8 21 10
degenerative polyarthritis 61
albinism, ocular 21
albinism ocular 45
xloa 21
oa 21


External Ids:

Disease Ontology8 DOID:0050633
OMIM47 300500

Related Diseases for Ocular Albinism

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 71)
idRelated DiseaseScoreTop Affiliating Genes
1albinism31.7GPR143
2aland island eye disease30.5CACNA1F, NYX
3microphthalmia30.4MITF, HCCS
4kallmann syndrome30.3VCX, VCX3A, VCX2
5ocular albinism, x-linked10.7
6osteoarthritis10.6
7ocular albinism, type i, nettleship-falls type10.5
8albinism ocular late onset sensorineural deafness10.5
9oculocutaneous albinism10.4
10waardenburg syndrome/ocular albinism, digenic10.4
11waardenburg's syndrome10.3
12arthritis10.3
13n syndrome10.2
14oculocutaneous albinism type 110.2
15oculocutaneous albinism type 210.2
16waardenburg syndrome type i10.2
17griscelli syndrome type 110.2
18waardenburg syndrome/albinism, digenic10.2
19microphthalmia with limb anomalies10.2
20burns10.0
21chediak-higashi syndrome10.0
22dyskeratosis congenita10.0
23congenital ichthyosiform erythroderma10.0
24keratoconjunctivitis sicca10.0
25aniridia10.0
26noonan syndrome10.0
27duchenne muscular dystrophy10.0
28congenital nystagmus10.0
29prader-willi syndrome10.0
30micro syndrome10.0
31oculocutaneous albinism type 410.0
32oculocutaneous albinism type 310.0
33oculocutaneous albinism type 1b10.0
34microcephaly-albinism-digital anomalies syndrome10.0
35chondrodysplasia10.0
36chondrodysplasia punctata syndrome10.0
37oculocerebral syndrome with hypopigmentation10.0
38ermine phenotype10.0
39griscelli syndrome type 210.0
40griscelli syndrome type 310.0
41infantile free sialic acid storage disease10.0
42nystagmus 1, congenital, x- linked10.0
43ocular muscular dystrophy10.0
44oculocerebral hypopigmentation syndrome type preus10.0
45yemenite deaf-blind hypopigmentation syndrome10.0
46iris hypoplasia10.0
47hermansky-pudlak syndrome 110.0
48blindness10.0
49microphthalmia syndromic 710.0HCCS
50astigmatism10.0CACNA1F

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



Diseases related to ocular albinism

Clinical Features for Ocular Albinism

Sources:
47OMIM
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Clinical features from OMIM:

300500

Drugs & Therapeutics for Ocular Albinism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Genetic Tests for Ocular Albinism

Anatomical Context for Ocular Albinism

Sources:
33MalaCards
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MalaCards organs/tissues related to Ocular Albinism:

33
Brain, Retina, Skin, Fetal brain

Animal Models for Ocular Albinism or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ocular Albinism

Sources:
51PubMed
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Articles related to Ocular Albinism:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. (23882993)
2013
2
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. (24301936)
2013
3
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. (20806075)
2010
4
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. (19938076)
2009
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
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. (20006830)
2009
7
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. (19123159)
2009
8
New mutations identified in the ocular albinism type 1 gene. (17822861)
2007
9
The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism. (17651735)
2007
10
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. (17920058)
2007
11
Eight previously unidentified mutations found in the OA1 ocular albinism gene. (16646960)
2006
12
Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae. (16154128)
2006
13
The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (16303920)
2005
14
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. (16029416)
2005
15
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. (15254223)
2004
16
Ocular albinism with sensorineural deafness. (15090016)
2004
17
Mutational analysis of the OA1 gene in ocular albinism. (12868035)
2003
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
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. (11092754)
2000
20
Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism. (10503922)
1999
21
Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. (9848314)
1998
22
Utility of linked markers in genetic counseling: estimation of carrier risks in X-linked ocular albinism. (9129743)
1997
23
Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) (9457748)
1997
24
Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. (8889556)
1996
25
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. (8799153)
1996
26
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. (7647783)
1995
27
X linked ocular albinism in Japanese patients. (7696233)
1995
28
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. (8302318)
1994
29
Ocular albinism with unilateral sectorial pigmentation in the fundus. (8025080)
1994
30
Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. (8025067)
1994
31
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. (8364577)
1993
32
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. (8230160)
1993
33
Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. (8301646)
1993
34
Clinical features of affected males with X linked ocular albinism. (8494858)
1993
35
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
36
Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report. (3785879)
1986
37
Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. (6544763)
1984
38
X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. (7296358)
1981
39
Inversion of direction-selectivity to anterior fields in neurons of nucleus of the optic tract in rabbits with ocular albinism. (7272756)
1981
40
X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. (666626)
1978
41
X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. (1085370)
1976
42
Partial ocular albinism in Mystromys albicaudatus (the African white-tailed rat). An electron microscopic study. (5015224)
1972
43
Ocular albinism in a female. (5032699)
1972
44
Ocular albinism and Xg. (4182201)
1969
45
Ocular albinism. Incidence and occupational prognosis. (5952954)
1966
46
OCULAR ALBINISM AND PROTANOPIA IN THE SAME FAMILY. (14213931)
1964
47
CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES. (14060100)
1963
48
Ocular albinism with report of a family with female carriers. (13898629)
1961
49
Ocular albinism with changes typical of carriers. (13396158)
1956
50
On recognizability of latent conductors of universal albinism and of ocular albinism. (18910132)
1948

Genetic Variations for Ocular Albinism

Expression for genes affiliated with Ocular Albinism

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

Search GEO for disease gene expression data for Ocular Albinism.

Pathways for genes affiliated with Ocular Albinism

Compounds for genes affiliated with Ocular Albinism

GO Terms for genes affiliated with Ocular Albinism

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet