OCA
MCID: OCL002
MIFTS: 58

Oculocutaneous Albinism (OCA) malady

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

Summaries for Oculocutaneous Albinism

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

MalaCards: Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to albinism and oculocutaneous albinism type 1, and has symptoms including astigmatism, photophobia and strabismus/squint. 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 testes, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:66 Oculocutaneous albinism is a form of albinism involving the eyes (\"oculo-\"), skin (\"-cutaneous\"),... more...

Description from OMIM:48 606952,606574,203290,203200,203100

Aliases & Classifications for Oculocutaneous Albinism

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 50Orphanet, 23GTR, 46Novoseek, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

50
oculocutaneous albinism:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

oculocutaneous albinism 9 44 22 11 50
albinism, oculocutaneous 44 23 22
oca 44 22 50
albinism oculocutaneous 46


External Ids:

Disease Ontology9 DOID:0050632
MESH via Orphanet37 D016115
ICD10 via Orphanet27 E70.3
SNOMED-CT via Orphanet60 63844009
UMLS via Orphanet64 C0078918

Related Diseases for Oculocutaneous Albinism

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18GeneCards, 19GeneDecks
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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 74)
idRelated DiseaseScoreTop Affiliating Genes
1albinism32.0SLC45A2, OCA2, TYR, TYRP1
2oculocutaneous albinism type 131.6TYR
3oculocutaneous albinism type 231.4OCA2
4oculocutaneous albinism type 431.2SLC45A2
5melanoma30.9TYRP1, OCA2, SLC45A2, TYR
6hermansky-pudlak syndrome30.9TYRP1, TYR, OCA2
7amelanotic melanoma30.7TYRP1, TYR
8vitiligo30.3TYR, TYRP1
9ocular albinism30.0OCA2, SLC24A5, TYR, SLC45A2, TYRP1
10oculocutaneous albinism type 1b10.7
11oculocutaneous albinism type 310.7
12rufous oculocutaneous albinism10.6
13albinism, oculocutaneous, type v10.5
14chediak-higashi syndrome10.4
15glaucoma10.4
16albinism, oculocutaneous, type vi10.4
17minimal pigment oculocutaneous albinism type 110.4
18angelman syndrome10.3
19prader-willi syndrome10.3
20choroiditis10.3
21pulmonary fibrosis10.3
22schizophrenia10.3
23hermansky pudlak syndrome 210.3
24foveal hypoplasia10.3
25albinism, oculocutaneous, type ii, modifier of10.3
26polyploidy10.3
27burns10.2
28menkes disease10.2
29platelet storage pool deficiency10.2
30neuronitis10.2
31duane retraction syndrome10.2
32acute kidney tubular necrosis10.2
33cryptorchidism10.2
34dysplastic nevus syndrome10.2
35bipolar disorder10.2
36cheilitis10.2
37diabetes mellitus10.2
38keratoconus10.2
39meningitis10.2
40motor neuron disease10.2
41neutropenia10.2
42refractive error10.2
43retinitis10.2
44strabismus10.2
45sickle cell disease10.2
46actinic cheilitis10.2
47albinism immunodeficiency10.2
48albinism, minimal pigment type10.2
49cryptophthalmos10.2
50kotzot-richter syndrome10.2

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



Diseases related to oculocutaneous albinism

Symptoms for Oculocutaneous Albinism

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48OMIM, 50Orphanet
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Clinical features from OMIM:

606952,606574,203290,203200,203100

Symptoms:

50 (show all 17)
  • astigmatism
  • photophobia
  • strabismus/squint
  • anomalies of eyelids, eyelashes and lacrimal system
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • myopia
  • hypermetropia
  • mild visual loss/impaired visual acuity
  • nystagmus
  • skin photosensitivity
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • decreased hair pigmentation/hypopigmentation of hair
  • albinism (hair)
  • autosomal recessive inheritance
  • macular dystrophy/absence/hypoplasia of the macula
  • visual loss/blindness/amblyopia
  • iris albinism/ocular albinism

Drugs & Therapeutics for Oculocutaneous Albinism

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Oculocutaneous Albinism

Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism

Search NIH Clinical Center for Oculocutaneous Albinism

Search CenterWatch for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

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23GTR
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Genetic tests related to Oculocutaneous Albinism:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism23

Anatomical Context for Oculocutaneous Albinism

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34MalaCards
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MalaCards organs/tissues related to Oculocutaneous Albinism:

34
Skin, Eye, Testes, Nk cells, Bone

Animal Models for Oculocutaneous Albinism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Oculocutaneous Albinism:

38
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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53PubMed
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Articles related to Oculocutaneous Albinism:

(show top 50)    (show all 308)
idTitleAuthorsYear
1
Oculocutaneous albinism and skin cancer risk. (22757611)
2013
2
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. (23504663)
2013
3
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. (24300644)
2013
4
Microperimetric biofeedback in a patient with oculocutaneous albinism. (24093197)
2013
5
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. (23970088)
2013
6
An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. (23242301)
2012
7
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. (21739261)
2011
8
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (19865097)
2010
9
Bilateral keratoconus with oculocutaneous albinism. (18797083)
2008
10
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2). (18036783)
2008
11
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. (17960121)
2007
12
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
13
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (15996218)
2005
14
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. (15656822)
2005
15
Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]. (16555521)
2005
16
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. (15565285)
2005
17
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (14722913)
2004
18
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
19
Amelanotic melanoma in a child with oculocutaneous albinism. (12825234)
2003
20
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. (12028586)
2002
21
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. (12128226)
2002
22
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. (11284711)
2001
23
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)
2001
24
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. (11384158)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 31KEGG, 39NCBI BioSystems Database
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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 utilization39
noradrenaline and adrenaline degradation39
phenylalanine degradation IV39
9.2TYR, TYRP1

Compounds for genes affiliated with Oculocutaneous Albinism

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46Novoseek, 25HMDB, 3BitterDB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1kojic acid469.5TYR, TYRP1
2dhica469.5TYR, TYRP1
3Melanin259.5TYRP1, OCA2
4arbutin3 4610.4TYRP1, TYR
5dopaquinone46 2510.4TYRP1, TYR
6eumelanin469.4TYRP1, TYR
7dopachrome469.4TYR, TYRP1
8hmba469.3TYRP1, TYR
9levodopa46 1210.2TYR, TYRP1
10agar469.2TYRP1, TYR
11ibmx46 62 3011.1TYRP1, TYR
12copper46 259.9TYR, TYRP1

GO Terms for genes affiliated with Oculocutaneous Albinism

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17Gene Ontology
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Cellular components related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:0100089.2TYRP1, OCA2
2melanosomeGO:0424708.6TYR, SLC24A5, TYRP1
3melanosome membraneGO:0331628.3SLC45A2, TYRP1, TYR, OCA2
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:0076019.5TYR, SLC45A2
2eye pigment biosynthetic processGO:0067269.5OCA2, TYR
3response to stimulusGO:0508969.1SLC24A5, SLC45A2
4melanin biosynthetic processGO:0424388.7TYRP1, OCA2, SLC45A2
5melanocyte differentiationGO:0303188.6C10orf11, OCA2, TYRP1

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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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Oculocutaneous Albinism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet