OCA2
MCID: OCL018
MIFTS: 58

Oculocutaneous Albinism Type 2 (OCA2) malady

Eye diseases, Skin diseases, Metabolic diseases categories

Summaries for Oculocutaneous Albinism Type 2

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42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Oculocutaneous albinism type 2 is a genetic condition that affects the 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. this condition 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; nystagmus and strabismus; and increased sensitivity to light (photophobia). this condition is caused by mutations in the oca2 gene and is inherited in an autosomal recessive fashion. last updated: 9/19/2011

MalaCards: Oculocutaneous Albinism Type 2, also known as OCA2, is related to albinism and oculocutaneous albinism, and has symptoms including skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma), melanoma and strabismus/squint. An important gene associated with Oculocutaneous Albinism Type 2 is OCA2 (oculocutaneous albinism II), and among its related pathways is Basal cell carcinoma. The compounds phaeomelanin and eumelanin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related mouse phenotypes are pigmentation and integument.

Description from OMIM:46 203200

GeneReviews summary for oca2

Aliases & Classifications for Oculocutaneous Albinism Type 2

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
oculocutaneous albinism type 2:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

oculocutaneous albinism type 2 19 42 48 60
oca2 19 42 48
oculocutaneous albinism tyrosinase positive 42 22
albinism, oculocutaneous, type 2 42 20
albinoidism 42 60
albinism, oculocutaneous, type ii 46
albinism 2 42


External Ids:

OMIM46 203200
MESH via Orphanet35 C537730
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet57 26336006
UMLS via Orphanet61 C0268495

Related Diseases for Oculocutaneous Albinism Type 2

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17GeneCards, 18GeneDecks
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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 3
Oculocutaneous Albinism Type 1b Albinism, Oculocutaneous, Type V
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type Vi

Diseases related to Oculocutaneous Albinism Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1albinism31.2OCA2, TYR, MC1R
2oculocutaneous albinism31.2MC1R, TYR, OCA2
3oculocutaneous albinism type 130.4TYR
4albinism, brown oculocutaneous30.3OCA2, HCL3
5congenital nystagmus30.2OCA2
6prader-willi syndrome30.2OCA2
7ocular albinism30.1OCA2, TYR
8hermansky-pudlak syndrome30.1TYR, OCA2
9vitiligo30.0TYR
10albinism, oculocutaneous, type ii, modifier of10.4
11melanoma10.3
12angelman syndrome10.3
13oculocutaneous albinism type 410.3
14sickle cell disease10.3
15brachymetapody anodontia hypotrichosis albinoidism10.3
16familial melanoma10.2
17estrogen-receptor negative breast cancer10.1
18breast cancer10.1
19influenza10.1
20hypomelanotic disorder10.1
21systemic lupus erythematosus10.0
22chagas disease10.0
23glycine encephalopathy10.0
24acute conjunctivitis10.0
25cataract10.0
26conjunctivitis10.0
27leishmaniasis10.0
28lung cancer10.0
29lupus erythematosus10.0
30retinal disease10.0
31retinitis10.0
32cutaneous malignant melanoma10.0
33intraocular melanoma10.0MC1R, TYR
34basal cell carcinoma10.0TYR, MC1R
35piebaldism10.0
36hypopigmentation of eyelid10.0
37tietz syndrome10.0
38griscelli syndrome type 110.0
39griscelli syndrome type 210.0
40oculoosteocutaneous syndrome10.0
41microphthalmia10.0MC1R, TYR
42skin disease10.0TYR, MC1R
43parkinson's disease9.9
44newcastle disease9.9
45subacute sclerosing panencephalitis9.9
46rabies9.9
47borna disease9.9
48measles9.9
49mumps9.9
50malaria9.9

Graphical network of the top 20 diseases related to Oculocutaneous Albinism Type 2:



Diseases related to oculocutaneous albinism type 2

Clinical Features for Oculocutaneous Albinism Type 2

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

203200

Clinical synopsis from OMIM:

203200

Symptoms:

48 (show all 12)
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • melanoma
  • strabismus/squint
  • decreased hair pigmentation/hypopigmentation of hair
  • excessive freckling
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • nystagmus
  • photophobia
  • mild visual loss/impaired visual acuity
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • autosomal recessive inheritance
  • iris albinism/ocular albinism

Drugs & Therapeutics for Oculocutaneous Albinism Type 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Oculocutaneous Albinism Type 2

Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism Type 2

Search NIH Clinical Center for Oculocutaneous Albinism Type 2

Search CenterWatch for Oculocutaneous Albinism Type 2

Genetic Tests for Oculocutaneous Albinism Type 2

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20GeneTests, 22GTR
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Genetic tests related to Oculocutaneous Albinism Type 2:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 220 OCA2
2 Tyrosinase-Positive Oculocutaneous Albinism22

Anatomical Context for Oculocutaneous Albinism Type 2

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32MalaCards
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MalaCards organs/tissues related to Oculocutaneous Albinism Type 2:

32
Skin, Eye, Retina, Testes

Animal Models for Oculocutaneous Albinism Type 2 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6MC1R, TYR, OCA2
2MP:00107718.6MC1R, TYR, OCA2
3MP:00053718.5MC1R, TYR, OCA2
4MP:00030128.3OCA2, TYR, MC1R

Publications for Oculocutaneous Albinism Type 2

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Sources:
50PubMed
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Articles related to Oculocutaneous Albinism Type 2:

(show all 14)
idTitleAuthorsYear
1
A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. (19397757)
2009
2
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. (18407468)
2008
3
Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. (17767372)
2007
4
Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression. (16199032)
2006
5
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. (16417222)
2006
6
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. (15942220)
2005
7
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. (12713581)
2003
8
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. (12469324)
2003
9
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). (12876664)
2003
10
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. (11384158)
2001
11
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. (11310796)
2001
12
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
13
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. (9341887)
1997
14
Oculocutaneous Albinism Type 2 (20301410)
1993

Genetic Variations for Oculocutaneous Albinism Type 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Oculocutaneous Albinism Type 2:

62 (show all 37)
id Symbol AA change Variation ID SNP ID
1OCA2p.Gly27ArgVAR_006117rs61738394
2OCA2p.Ser86ArgVAR_006118
3OCA2p.Cys112PheVAR_006119
4OCA2p.Ala368ValVAR_006124rs61745150
5OCA2p.Phe385IleVAR_006125rs137956605
6OCA2p.Met395LeuVAR_006126
7OCA2p.Thr404MetVAR_006127rs144812594
8OCA2p.Arg419TrpVAR_006129rs143218168
9OCA2p.Val443IleVAR_006132rs28934272
10OCA2p.Met446ValVAR_006133
11OCA2p.Ile473SerVAR_006134
12OCA2p.Asn489AspVAR_006135
13OCA2p.His549GlnVAR_006136
14OCA2p.Thr592IleVAR_006137rs1800413
15OCA2p.Lys614AsnVAR_006138
16OCA2p.Trp652ArgVAR_006140
17OCA2p.Trp679ArgVAR_006141
18OCA2p.Ala724ProVAR_006143
19OCA2p.Ser736LeuVAR_006144
20OCA2p.Pro743LeuVAR_006145
21OCA2p.Ala787ValVAR_006146
22OCA2p.Ala481ThrVAR_007940rs74653330
23OCA2p.Arg10TrpVAR_020622
24OCA2p.Pro198LeuVAR_020623rs183487020
25OCA2p.Pro211LeuVAR_020624
26OCA2p.Arg290GlyVAR_020625
27OCA2p.Ala334ValVAR_020626
28OCA2p.Met394IleVAR_020630
29OCA2p.Lys614GluVAR_020631
30OCA2p.Ile617LeuVAR_020632
31OCA2p.Trp679CysVAR_020634
32OCA2p.Arg720CysVAR_020636
33OCA2p.Gly795ArgVAR_020637
34OCA2p.Gln799HisVAR_020638
35OCA2p.Asn476AspVAR_043700
36OCA2p.Gly775ArgVAR_043701
37OCA2p.Tyr827HisVAR_043702

Expression for genes affiliated with Oculocutaneous Albinism Type 2

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculocutaneous Albinism Type 2

Search GEO for disease gene expression data for Oculocutaneous Albinism Type 2.

Pathways for genes affiliated with Oculocutaneous Albinism Type 2

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29KEGG
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Pathways related to Oculocutaneous Albinism Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1MC1R, TYR

Compounds for genes affiliated with Oculocutaneous Albinism Type 2

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Oculocutaneous Albinism Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phaeomelanin449.2MC1R, TYR
2eumelanin449.2MC1R, TYR
3dopachrome449.1MC1R, TYR
4vitamin d449.1MC1R, TYR
5levodopa44 1110.0TYR, MC1R
6ibmx44 28 5910.8MC1R, TYR

GO Terms for genes affiliated with Oculocutaneous Albinism Type 2

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16Gene Ontology
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Cellular components related to Oculocutaneous Albinism Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:0331629.4TYR, OCA2

Biological processes related to Oculocutaneous Albinism Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:0424389.1MC1R, OCA2
2eye pigment biosynthetic processGO:0067269.1TYR, OCA2

Products for genes affiliated with Oculocutaneous Albinism Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculocutaneous Albinism Type 2

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet