OCA
MCID: OCL002
MIFTS: 56

Oculocutaneous Albinism (OCA) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases categories
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Summaries for Oculocutaneous Albinism

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Genetics Home Reference:21 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).

MalaCards based summary: Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to oculocutaneous albinism type 1 and oculocutaneous albinism type 2, and has symptoms including An important gene associated with Oculocutaneous Albinism is TYR (tyrosinase), and among its related pathways are Basal cell carcinoma and Phenylalanine metabolism. The compounds kojic acid and dhica have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:8 An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.

NIH Rare Diseases:42 Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  all types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner.  treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses. last updated: 10/17/2012

Wikipedia:65 Oculocutaneous albinism is a form of albinism involving the eyes (\"oculo-\"), skin (\"-cutaneous\"),... more...

Descriptions from OMIM:46 606952, 606574, 203100, 203290, 203200 615312, 614473 more

Aliases & Classifications for Oculocutaneous Albinism

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Oculocutaneous Albinism, Aliases & Descriptions:

Name: Oculocutaneous Albinism 8 42 21 10
Albinism, Oculocutaneous 42 22 21
 
Oca 42 21
Albinism Oculocutaneous 44


Classifications:



External Ids:

Disease Ontology8 DOID:0050632

Related Diseases for Oculocutaneous Albinism

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Diseases in the Oculocutaneous Albinism Type 1 family:

oculocutaneous albinism Oculocutaneous Albinism Type 2
Oculocutaneous Albinism Type 4 Oculocutaneous Albinism Type 1b
Oculocutaneous Albinism Type 3 Albinism, Oculocutaneous, Type V
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type Vi

Diseases related to Oculocutaneous Albinism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism type 132.1TYR
2oculocutaneous albinism type 231.9OCA2
3oculocutaneous albinism type 431.6SLC45A2
4albinism31.6SLC45A2, OCA2, TYR, TYRP1
5hermansky-pudlak syndrome30.8TYRP1, TYR, OCA2
6amelanotic melanoma30.8TYRP1, TYR
7melanoma30.4TYRP1, OCA2, SLC45A2, TYR
8vitiligo30.3TYR, TYRP1
9ocular albinism29.4OCA2, SLC24A5, TYR, SLC45A2, TYRP1
10oculocutaneous albinism type 1b10.7
11oculocutaneous albinism type 310.7
12rufous oculocutaneous albinism10.6
13choroiditis10.5
14chediak-higashi syndrome10.5
15albinism, oculocutaneous, type v10.5
16albinism, oculocutaneous, type vi10.4
17congenital nystagmus10.4OCA2
18pulmonary fibrosis10.3
19schizophrenia10.3
20angelman syndrome10.3
21prader-willi syndrome10.3
22hermansky pudlak syndrome 210.3
23albinism, oculocutaneous, type ii, modifier of10.3
24minimal pigment oculocutaneous albinism type 110.3
25bipolar disorder10.2
26burns10.2
27diabetes mellitus10.2
28keratoconus10.2
29motor neuron disease10.2
30neutropenia10.2
31platelet storage pool deficiency10.2
32menkes disease10.2
33plexiform neurofibroma10.2
34maple syrup urine disease10.2
35acute kidney tubular necrosis10.2
36duane retraction syndrome10.2
37dysplastic nevus syndrome10.2
38actinic keratosis10.2
39neuronitis10.2
40cryptorchidism10.2
41basal cell carcinoma10.2
42colitis10.2
43keratosis10.2
44meningitis10.2
45neurofibroma10.2
46refractive error10.2
47retinitis10.2
48strabismus10.2
49sickle cell disease10.2
50albinism immunodeficiency10.2

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



Diseases related to oculocutaneous albinism

Symptoms for Oculocutaneous Albinism

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Clinical features from OMIM:

606952,606574,203100,203290,203200,615312,614473

HPO human phenotypes related to Oculocutaneous Albinism:

(show all 14)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 nystagmus hallmark (90%) HP:0000639
3 cutaneous photosensitivity hallmark (90%) HP:0000992
4 ocular albinism hallmark (90%) HP:0001107
5 hypopigmentation of hair hallmark (90%) HP:0005599
6 generalized hypopigmentation hallmark (90%) HP:0007513
7 astigmatism typical (50%) HP:0000483
8 strabismus typical (50%) HP:0000486
9 visual impairment typical (50%) HP:0000505
10 hypermetropia typical (50%) HP:0000540
11 myopia typical (50%) HP:0000545
12 photophobia typical (50%) HP:0000613
13 abnormality of the macula typical (50%) HP:0001103
14 neoplasm of the skin occasional (7.5%) HP:0008069

Drugs & Therapeutics for Oculocutaneous Albinism

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Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism

Search NIH Clinical Center for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

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Genetic tests related to Oculocutaneous Albinism:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism22

Anatomical Context for Oculocutaneous Albinism

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MalaCards organs/tissues related to Oculocutaneous Albinism:

32
Skin, Eye, Retina, Testes, Nk cells, Bone

Animal Models for Oculocutaneous Albinism or affiliated genes

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MGI Mouse Phenotypes related to Oculocutaneous Albinism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7SLC24A5, OCA2, TYRP1
2MP:00053828.4SLC24A5, OCA2, TYRP1
3MP:00053898.3TYRP1, TYR, OCA2, SLC45A2
4MP:00053788.3SLC45A2, OCA2, TYR, TYRP1
5MP:00053868.2TYRP1, TYR, OCA2, SLC45A2
6MP:00011867.9SLC24A5, SLC45A2, OCA2, TYR, TYRP1
7MP:00053917.9TYRP1, TYR, OCA2, SLC45A2, SLC24A5
8MP:00107717.9SLC24A5, SLC45A2, OCA2, TYR, TYRP1

Publications for Oculocutaneous Albinism

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Articles related to Oculocutaneous Albinism:

(show top 50)    (show all 324)
idTitleAuthorsYear
1
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. (24876456)
2014
2
Oculocutaneous albinism and skin cancer risk. (22757611)
2013
3
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. (23504663)
2013
4
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. (24300644)
2013
5
Microperimetric biofeedback in a patient with oculocutaneous albinism. (24093197)
2013
6
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. (23970088)
2013
7
An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. (23242301)
2012
8
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. (21739261)
2011
9
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (19865097)
2010
10
Bilateral keratoconus with oculocutaneous albinism. (18797083)
2008
11
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2). (18036783)
2008
12
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. (17960121)
2007
13
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
14
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (15996218)
2005
15
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. (15656822)
2005
16
Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]. (16555521)
2005
17
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. (15565285)
2005
18
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (14722913)
2004
19
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. (12829739)
2003
20
Amelanotic melanoma in a child with oculocutaneous albinism. (12825234)
2003
21
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. (12028586)
2002
22
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. (12128226)
2002
23
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. (11284711)
2001
24
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)
2001
25
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
26
Electron microscopic DOPA reaction test for oculocutaneous albinism. (10929771)
2000
27
Oculocutaneous albinism in the i6 mutant of the medaka fish is associated with a deletion in the tyrosinase gene. (10454293)
1999
28
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. (10571953)
1999
29
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). (10671067)
1998
30
Diagnosis of oculocutaneous albinism with molecular analysis. (8644824)
1996
31
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. (7887411)
1995
32
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). (7762554)
1995
33
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. (7920637)
1994
34
Ophthalmic features of minimal pigment oculocutaneous albinism. (8190479)
1994
35
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. (8421497)
1993
36
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. (8477259)
1993
37
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. (8434585)
1993
38
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. (1642278)
1992
39
Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism. (1498098)
1992
40
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. (1899321)
1991
41
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. (1711223)
1991
42
Eumelanin and pheomelanin contents in hair and 5-S-cysteinyldopa and 5-hydroxy-6-methoxyindole-2-carboxylic acid levels in urine in Japanese oculocutaneous albinism. (2059060)
1991
43
Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. (1903591)
1991
44
Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. (2120217)
1990
45
Malignant melanoma in oculocutaneous albinism. (2684028)
1989
46
Developmental glaucoma in oculocutaneous albinism. (3405588)
1988
47
The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man. (3130302)
1988
48
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. (6616879)
1983
49
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). (7065089)
1982
50
Oculocutaneous albinism associated with Apert's syndrome. (596398)
1977

Variations for Oculocutaneous Albinism

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Expression for genes affiliated with Oculocutaneous Albinism

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Expression patterns in normal tissues for genes affiliated with Oculocutaneous Albinism

Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for genes affiliated with Oculocutaneous Albinism

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Pathways related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2TYR, TYRP1
2
Show member pathways
phenylalanine utilization37
noradrenaline and adrenaline degradation37
phenylalanine degradation IV37
9.2TYR, TYRP1

Compounds for genes affiliated with Oculocutaneous Albinism

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Compounds related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1kojic acid449.5TYR, TYRP1
2dhica449.5TYR, TYRP1
3Melanin249.5OCA2, TYRP1
4arbutin2 4410.4TYRP1, TYR
5dopaquinone44 2410.4TYR, TYRP1
6eumelanin449.4TYR, TYRP1
7dopachrome449.4TYRP1, TYR
8hmba449.3TYR, TYRP1
9levodopa44 1110.2TYR, TYRP1
10agar449.2TYR, TYRP1
11ibmx44 61 2811.1TYRP1, TYR
12copper44 249.9TYR, TYRP1

GO Terms for genes affiliated with Oculocutaneous Albinism

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

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:0100089.2OCA2, TYRP1
2melanosomeGO:0424708.6SLC24A5, TYR, TYRP1
3melanosome membraneGO:0331628.3SLC45A2, OCA2, TYR, TYRP1
4integral component of membraneGO:0160217.4TYRP1, TYR, OCA2, SLC45A2, SLC24A5

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

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.5SLC45A2, TYR
2eye pigment biosynthetic processGO:0067269.5TYR, OCA2
3response to stimulusGO:0508969.1SLC24A5, SLC45A2
4melanin biosynthetic processGO:0424388.7SLC45A2, OCA2, TYRP1
5melanocyte differentiationGO:0303188.6OCA2, TYRP1, C10orf11

Molecular functions related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055079.2TYR, TYRP1

Products for genes affiliated with Oculocutaneous Albinism

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Sources for Oculocutaneous Albinism

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3CDC
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22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
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36MGI
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40NDF-RT
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47OMIM via Orphanet
51PubMed
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58SNOMED-CT via Orphanet
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63UMLS via Orphanet