MCID: OCL002
MIFTS: 50

Oculocutaneous Albinism malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases categories

Aliases & Classifications for Oculocutaneous Albinism

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Oculocutaneous Albinism, Aliases & Descriptions:

Name: Oculocutaneous Albinism 9 41 21 11
Albinism, Oculocutaneous 41 21
 
Albinism Oculocutaneous 43 22
Oca 41 21


Classifications:



External Ids:

Disease Ontology9 DOID:0050632

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 albinism, oculocutaneous, type ia and albinism, oculocutaneous, type ii, and has symptoms including visual impairment, nystagmus and cutaneous photosensitivity. 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:9 An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.

NIH Rare Diseases:41 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:63 Oculocutaneous albinism is a form of albinism involving the eyes (\"oculo-\"), skin (\"-cutaneous\"),... more...

Related Diseases for Oculocutaneous Albinism

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Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type V Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1albinism, oculocutaneous, type ia31.8TYR
2albinism, oculocutaneous, type ii31.6OCA2
3albinism31.6TYRP1, TYR, OCA2, SLC45A2
4albinism, oculocutaneous, type iv31.4SLC45A2
5hermansky-pudlak syndrome30.9OCA2, TYR, TYRP1
6amelanotic melanoma30.8TYRP1, TYR
7melanoma30.4TYRP1, TYR, OCA2, SLC45A2
8ocular albinism29.6TYRP1, TYR, OCA2, SLC45A2, SLC24A5
9albinism, oculocutaneous, type iii10.8
10albinism, oculocutaneous, type ib10.7
11albinism, oculocutaneous, type v10.5
12choroiditis10.5
13chediak-higashi syndrome10.5
14albinism, oculocutaneous, type vi10.4
15minimal pigment oculocutaneous albinism type 110.4
16temperature-sensitive oculocutaneous albinism type 110.4
17congenital nystagmus10.3OCA2
18schizophrenia10.3
19hermansky-pudlak syndrome 210.3
20prader-willi syndrome10.3
21angelman syndrome10.3
22pulmonary fibrosis10.3
23brown oca10.2
24trichomegaly10.2
25alpha-methylacyl-coa racemase deficiency10.2
26albinism, oculocutaneous, type vii10.2
27hermansky-pudlak syndrome 110.2
28menkes disease10.2
29cryptorchidism10.2
30bipolar disorder10.2
31burns10.2
32childhood type dermatomyositis10.2
33hemophagocytic lymphohistiocytosis10.2
34keratoconus10.2
35motor neuron disease10.2
36neutropenia10.2
37actinic keratosis10.2
38plexiform neurofibroma10.2
39platelet storage pool deficiency10.2
40neuronitis10.2
41duane retraction syndrome10.2
42dysplastic nevus syndrome10.2
43basal cell carcinoma10.2
44cheilitis10.2
45colitis10.2
46keratosis10.2
47meningitis10.2
48neurofibroma10.2
49refractive error10.2
50retinitis10.2

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



Diseases related to oculocutaneous albinism

Symptoms for Oculocutaneous Albinism

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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:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7SLC24A5, TYRP1, OCA2
2MP:00053828.4SLC24A5, TYRP1, OCA2
3MP:00053898.3SLC45A2, OCA2, TYR, TYRP1
4MP:00053788.3SLC45A2, OCA2, TYR, TYRP1
5MP:00053868.2SLC45A2, TYR, TYRP1, OCA2
6MP:00011867.9TYRP1, TYR, OCA2, SLC45A2, SLC24A5
7MP:00053917.9TYRP1, TYR, OCA2, SLC45A2, SLC24A5
8MP:00107717.9TYRP1, TYR, OCA2, SLC45A2, SLC24A5

Publications for Oculocutaneous Albinism

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Articles related to Oculocutaneous Albinism:

(show top 50)    (show all 331)
idTitleAuthorsYear
1
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. (25690523)
2015
2
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. (24876456)
2014
3
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. (25455140)
2014
4
Oculocutaneous albinism and skin cancer risk. (22757611)
2013
5
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. (23504663)
2013
6
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. (24300644)
2013
7
Microperimetric biofeedback in a patient with oculocutaneous albinism. (24093197)
2013
8
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. (23970088)
2013
9
An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. (23242301)
2012
10
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. (21739261)
2011
11
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (19865097)
2010
12
Bilateral keratoconus with oculocutaneous albinism. (18797083)
2008
13
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2). (18036783)
2008
14
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. (17960121)
2007
15
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
16
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (15996218)
2005
17
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. (15656822)
2005
18
Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]. (16555521)
2005
19
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (14722913)
2004
20
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
21
Amelanotic melanoma in a child with oculocutaneous albinism. (12825234)
2003
22
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. (12028586)
2002
23
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. (12128226)
2002
24
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. (11284711)
2001
25
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)
2001
26
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
27
Electron microscopic DOPA reaction test for oculocutaneous albinism. (10929771)
2000
28
Oculocutaneous albinism in the i6 mutant of the medaka fish is associated with a deletion in the tyrosinase gene. (10454293)
1999
29
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. (10571953)
1999
30
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). (10671067)
1998
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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2TYR, TYRP1
2
Show member pathways
phenylalanine utilization36
noradrenaline and adrenaline degradation36
phenylalanine degradation IV36
9.2TYR, TYRP1

Compounds for genes affiliated with Oculocutaneous Albinism

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

(show all 12)
idCompoundScoreTop Affiliating Genes
1kojic acid439.5TYR, TYRP1
2dhica439.5TYR, TYRP1
3Melanin249.5TYRP1, OCA2
4arbutin2 4310.4TYRP1, TYR
5dopaquinone43 2410.4TYRP1, TYR
6eumelanin439.4TYRP1, TYR
7dopachrome439.4TYR, TYRP1
8hmba439.3TYRP1, TYR
9levodopa43 1210.2TYR, TYRP1
10agar439.2TYRP1, TYR
11ibmx43 59 2811.1TYRP1, TYR
12copper43 249.9TYR, TYRP1

GO Terms for genes affiliated with Oculocutaneous Albinism

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

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:00100089.2TYRP1, OCA2
2melanosomeGO:00424708.6TYR, SLC24A5, TYRP1
3melanosome membraneGO:00331628.3SLC45A2, TYRP1, TYR, OCA2
4integral component of membraneGO:00160217.4TYRP1, TYR, OCA2, SLC45A2, SLC24A5

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

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.5TYR, SLC45A2
2eye pigment biosynthetic processGO:00067269.5OCA2, TYR
3response to stimulusGO:00508969.1SLC24A5, SLC45A2
4melanin biosynthetic processGO:00424388.7TYRP1, OCA2, SLC45A2
5melanocyte differentiationGO:00303188.6C10orf11, OCA2, TYRP1

Molecular functions related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.2TYR, TYRP1

Products for genes affiliated with Oculocutaneous Albinism

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Sources for Oculocutaneous 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