Aliases & Classifications for Ocular Albinism

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Ocular Albinism, Aliases & Descriptions:

Name: Ocular Albinism 9 21 11
Oa 21 3
Degenerative Polyarthritis 60
 
Albinism, Ocular 21
Albinism Ocular 43
Xloa 21


Classifications:

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


External Ids:

Disease Ontology9 DOID:0050633

Summaries for Ocular Albinism

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CDC:3 Osteoarthritis (OA) is a disease of the entire joint involving the cartilage, joint lining, ligaments, and underlying bone. The breakdown of these tissues eventually leads to pain and joint stiffness. The joints most commonly affected are the knees, hips, and those in the hands and spine. The specific causes of OA are unknown, but are believed to be a result of both mechanical and molecular events in the affected joint. Disease onset is gradual and usually begins after the age of 40. There is currently no cure for OA. Treatment for OA focuses on relieving symptoms and improving function, and can include a combination of patient education, physical therapy, weight control, use of medications, and eventually total joint replacement.

MalaCards based summary: Ocular Albinism, also known as oa, is related to albinism and congenital nystagmus, and has symptoms including astigmatism, visual impairment and photophobia. 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 aspirin and chondroitin and the compounds l-dopa and kojic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related mouse phenotypes are pigmentation and vision/eye.

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.

Wikipedia:63 Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily... more...

Related Diseases for Ocular Albinism

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Diseases related to Ocular Albinism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 95)
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
7osteoarthritis10.7
8waardenburg syndrome/ocular albinism, digenic10.6
9ocular albinism, type i, nettleship-falls type10.5
10aland island eye disease10.4
11albinism, oculocutaneous, type ia10.4
12neuronitis10.4
13ocular albinism with congenital sensorineural deafness10.4
14albinism, oculocutaneous, type ii10.3
15hermansky-pudlak syndrome10.3
16oculocerebral hypopigmentation syndrome type preus10.3
17oculocerebral syndrome with hypopigmentation10.3
18rheumatoid arthritis10.3
19arthritis10.3
20chediak-higashi syndrome10.2
21griscelli syndrome, type 310.2
22albinism, oculocutaneous, type iv10.2
23albinism, oculocutaneous, type iii10.2
24albinism, oculocutaneous, type ib10.2
25griscelli syndrome, type 110.2
26griscelli syndrome, type 210.2
27kallmann syndrome10.2
28oculocutaneous albinism10.2
29retinitis10.2
30free sialic acid storage disorders10.2
31ermine phenotype10.2
32griscelli syndrome10.2
33microcephaly-albinism-digital anomalies syndrome10.2
34yemenite deaf-blind hypopigmentation syndrome10.2
35attenuated ch├ędiak-higashi syndrome10.2
36enthesopathy10.1
37anophthalmos with limb anomalies10.1
38multiple sulfatase deficiency10.1
39hermansky-pudlak syndrome 210.1
40hermansky-pudlak syndrome 710.1
41spinocerebellar ataxia, autosomal recessive 210.1
42hermansky-pudlak syndrome 110.1
43hermansky-pudlak syndrome 610.1
44hermansky-pudlak syndrome 510.1
45aniridia10.1
46prader-willi syndrome10.1
47vici syndrome10.1
48hermansky-pudlak syndrome 810.1
49hermansky-pudlak syndrome 410.1
50glycerol kinase deficiency10.1

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



Diseases related to ocular albinism

Symptoms for Ocular Albinism

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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:

31
Eye, Retina, Bone, Skin, Brain, Testes

Animal Models for Ocular Albinism or affiliated genes

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MGI Mouse Phenotypes related to Ocular Albinism:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.4GPR143, MITF, TYR
2MP:00053918.2TYR, GPR143, MITF, CACNA1F
3MP:00030128.0MITF, TYR, CACNA1F, GPBAR1

Publications for Ocular Albinism

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Articles related to Ocular Albinism:

(show top 50)    (show all 144)
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
Ocular albinism type 1: more than meets the eye. (11549106)
2001
17
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
18
OA1 mutations and deletions in X-linked ocular albinism. (9529334)
1998
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
Genetic studies of ocular albinism in a large Virginia kindred. (6703591)
1984
38
X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. (7296358)
1981
39
Macromelanosomes in X-linked ocular albinism. (7390409)
1980
40
Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism. (7398111)
1980
41
X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. (985163)
1976
42
Partial ocular albinism in Mystromys albicaudatus (the African white-tailed rat). An electron microscopic study. (5015224)
1972
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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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 Suite gene sharing:

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, 43Novoseek
See all sources

Compounds related to Ocular Albinism according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1l-dopa28 2410.3GPR143, TYR
2kojic acid439.1MITF, TYR
3dopachrome438.9TYR, MITF
4hmba438.7MITF, TYR
5glutamate438.5MITF, CLCN4, TYR

GO Terms for genes affiliated with Ocular Albinism

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Cellular components related to Ocular Albinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:00331629.2GPR143, TYR
2melanosomeGO:00424709.0GPR143, TYR
3integral component of membraneGO:00160217.8CACNA1F, CLCN4, GPR143, GPBAR1, TYR

Biological processes related to Ocular Albinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1eye pigment biosynthetic processGO:00067269.0GPR143, TYR
2visual perceptionGO:00076018.8CACNA1F, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet