OA
MCID: OCL001
MIFTS: 48

Ocular Albinism (OA) malady

Eye diseases category
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Summaries for Ocular Albinism

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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 based summary: Ocular Albinism, also known as degenerative polyarthritis, is related to albinism and congenital nystagmus, and has symptoms including An important gene associated with Ocular Albinism is GPR143 (G protein-coupled receptor 143), and among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Basal cell carcinoma. The drugs indomethacin and sulindac and the compounds l-dopa and kojic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related mouse phenotypes are pigmentation and vision/eye.

Description from OMIM:46 300500

Aliases & Classifications for Ocular Albinism

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Ocular Albinism, Aliases & Descriptions:

Name: Ocular Albinism 8 21 10
Degenerative Polyarthritis 62
Albinism, Ocular 21
 
Albinism Ocular 44
Xloa 21
Oa 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


External Ids:

Disease Ontology8 DOID:0050633
OMIM46 300500

Related Diseases for Ocular Albinism

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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
1albinism31.8TYR, GPR143
2congenital nystagmus30.7GPR143
3microphthalmia30.2TYR, MITF
4waardenburg's syndrome30.0MITF, TYR
5melanoma29.4TYR, MITF, GPR143
6ocular albinism, x-linked10.7
7osteoarthritis10.6
8ocular albinism, type i, nettleship-falls type10.6
9albinism ocular late onset sensorineural deafness10.5
10aland island eye disease10.5
11anophthalmos with limb anomalies10.4
12waardenburg syndrome/ocular albinism, digenic10.4
13neuronitis10.3
14kallmann syndrome10.2
15retinitis10.2
16oculocutaneous albinism type 110.2
17oculocutaneous albinism type 210.2
18griscelli syndrome type 110.2
19arthritis10.2
20rheumatoid arthritis10.2
21enthesopathy10.1
22sensorineural hearing loss10.1MITF, TBL1X
23burns10.1
24chediak-higashi syndrome10.1
25diabetes mellitus10.1
26duchenne muscular dystrophy10.1
27dyskeratosis congenita10.1
28congenital ichthyosiform erythroderma10.1
29prader-willi syndrome10.1
30keratoconjunctivitis sicca10.1
31oculocutaneous albinism10.1
32noonan syndrome10.1
33ectropion10.1
34eye disease10.1
35keratoconjunctivitis10.1
36muscular dystrophy10.1
37neuritis10.1
38optic neuritis10.1
39microphthalmia with linear skin defects syndrome10.1
40oculocutaneous albinism type 410.1
41chondrodysplasia10.1
42ermine phenotype10.1
43griscelli syndrome type 210.1
44griscelli syndrome type 310.1
45infantile free sialic acid storage disease10.1
46microcephaly-albinism-digital anomalies syndrome10.1
47nystagmus 1, congenital, x- linked10.1
48oculocerebral hypopigmentation syndrome type preus10.1
49oculocerebral syndrome with hypopigmentation10.1
50oculocutaneous albinism type 1b10.1

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



Diseases related to ocular albinism

Symptoms for Ocular Albinism

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Clinical features from OMIM:

300500

HPO human phenotypes related to Ocular Albinism:

(show all 9)
id Description Frequency HPO Source Accession
1 astigmatism hallmark (90%) HP:0000483
2 visual impairment hallmark (90%) HP:0000505
3 photophobia hallmark (90%) HP:0000613
4 nystagmus hallmark (90%) HP:0000639
5 ocular albinism hallmark (90%) HP:0001107
6 strabismus typical (50%) HP:0000486
7 abnormality of the pupil typical (50%) HP:0000615
8 abnormality of the macula typical (50%) HP:0001103
9 night blindness occasional (7.5%) HP:0000662

Drugs & Therapeutics for Ocular Albinism

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Genetic Tests for Ocular Albinism

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Anatomical Context for Ocular Albinism

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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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MGI Mouse Phenotypes related to Ocular Albinism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.4TYR, GPR143, MITF
2MP:00053918.2CACNA1F, MITF, GPR143, TYR
3MP:00030128.0CACNA1F, MITF, GPBAR1, TYR

Publications for Ocular Albinism

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Articles related to Ocular Albinism:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion. (24478262)
2014
2
The cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1. (25185585)
2014
3
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. (19938076)
2009
4
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. (19208379)
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
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. (18697795)
2008
7
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. (18978956)
2008
8
Protracted micro-nystagmus induced by video game play in a patient with mild ocular albinism. (18811587)
2008
9
New mutations identified in the ocular albinism type 1 gene. (17822861)
2007
10
Eight previously unidentified mutations found in the OA1 ocular albinism gene. (16646960)
2006
11
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. (16754205)
2006
12
The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (16303920)
2005
13
Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. (16023414)
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
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
17
OA1 mutations and deletions in X-linked ocular albinism. (9529334)
1998
18
Utility of linked markers in genetic counseling: estimation of carrier risks in X-linked ocular albinism. (9129743)
1997
19
Transillumination of iris and subnormal visual acuity--ocular albinism? (8795373)
1996
20
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. (7647783)
1995
21
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. (8634705)
1995
22
Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS). (7759088)
1995
23
X linked ocular albinism in Japanese patients. (7696233)
1995
24
Carrier detection in X linked ocular albinism using linked DNA polymorphisms. (7918264)
1994
25
Ocular Albinism, X-Linked (20301517)
1993
26
X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. (8288253)
1993
27
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. (8364577)
1993
28
Refinement of the localization of the X-linked ocular albinism gene. (8486373)
1993
29
Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. (8330450)
1993
30
Genetic mapping of X linked ocular albinism: linkage analysis in British families. (1355560)
1992
31
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. (1684563)
1991
32
Dyschromatosis universalis with X-linked ocular albinism. (1806318)
1991
33
Linkage analysis in X-linked ocular albinism. (1674724)
1991
34
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
35
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
36
Iris pigment mosaicism in carriers of X-linked ocular albinism cum pigmento. (2923159)
1989
37
Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report. (3785879)
1986
38
Genetic studies of ocular albinism in a large Virginia kindred. (6703591)
1984
39
X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. (7296358)
1981
40
Macromelanosomes in X-linked ocular albinism. (7390409)
1980
41
Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism. (7398111)
1980
42
X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. (985163)
1976
43
Partial ocular albinism in Mystromys albicaudatus (African white-tailed rat). (5565883)
1971
44
Ocular albinism in Newfoundland. (5125647)
1971
45
Ocular albinism and Xg. (4182201)
1969
46
Measurable linkage between ocular albinism and Xg. (6019304)
1967
47
OCULAR ALBINISM AND PROTANOPIA IN THE SAME FAMILY. (14213931)
1964
48
CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES. (14060100)
1963
49
Ocular albinism with report of a family with female carriers. (13898629)
1961
50
Ocular albinism with changes typical of carriers. (13396158)
1956

Variations for Ocular Albinism

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Expression for genes affiliated with Ocular Albinism

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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

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Pathways related to Ocular Albinism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TBL1X, MITF
2
Show member pathways
9.0MITF, TYR

Compounds for genes affiliated with Ocular Albinism

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Sources:
28IUPHAR, 24HMDB, 44Novoseek
See all sources

Compounds related to Ocular Albinism according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-dopa28 2410.3GPR143, TYR
2kojic acid449.1MITF, TYR
3dopachrome448.9TYR, MITF
4hmba448.7MITF, TYR
5glutamate448.5MITF, CLCN4, TYR

GO Terms for genes affiliated with Ocular Albinism

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Cellular components related to Ocular Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:0331629.2GPR143, TYR
2melanosomeGO:0424709.0GPR143, TYR
3integral component of membraneGO:0160217.8CACNA1F, CLCN4, GPR143, GPBAR1, TYR

Biological processes related to Ocular Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1eye pigment biosynthetic processGO:0067269.0GPR143, TYR
2visual perceptionGO:0076018.8CACNA1F, GPR143, TYR

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet