OCA2
MCID: OCL018
MIFTS: 41

Oculocutaneous Albinism Type 2 (OCA2) malady

Eye, Skin, Metabolic categories

Summaries for Oculocutaneous Albinism Type 2

Sources:
43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 autosomal recessive inheritance, nystagmus and mild visual loss/impaired visual acuity. 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 and retina, and related mouse phenotypes are pigmentation and integument.

Description from OMIM:47 203200

GeneReviews summary for oca2

Aliases & Classifications for Oculocutaneous Albinism Type 2

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 49 61
oca2 19 43 49
oculocutaneous albinism tyrosinase positive 43 22
albinism, oculocutaneous, type 2 43 20
albinoidism 43 61
albinism, oculocutaneous, type ii 47
albinism 2 43


External Ids:

OMIM47 203200
MESH via Orphanet36 C537730
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet58 26336006
UMLS via Orphanet62 C0268495

Related Diseases for Oculocutaneous Albinism Type 2

Sources:
17GeneCards, 18GeneDecks
See all sources

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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1albinism31.2OCA2, MC1R, TYR
2oculocutaneous albinism31.2TYR, MC1R, OCA2
3oculocutaneous albinism type 130.5TYR
4albinism, brown oculocutaneous30.4OCA2, HCL3
5congenital nystagmus30.3OCA2
6prader-willi syndrome30.3OCA2
7ocular albinism30.2OCA2, TYR
8hermansky-pudlak syndrome30.2OCA2, TYR
9vitiligo30.1TYR
10albinism, oculocutaneous, type ii, modifier of10.5
11angelman syndrome10.3
12sickle cell disease10.3
13brachymetapody anodontia hypotrichosis albinoidism10.3
14familial melanoma10.2
15estrogen-receptor negative breast cancer10.2
16hypomelanotic disorder10.1
17systemic lupus erythematosus10.1
18chagas disease10.1
19glycine encephalopathy10.1
20acute conjunctivitis10.1
21cutaneous malignant melanoma10.1
22brown oca10.1
23piebaldism10.0
24hypopigmentation of eyelid10.0
25tietz syndrome10.0
26griscelli syndrome type 110.0
27griscelli syndrome type 210.0
28oculoosteocutaneous syndrome10.0
29intraocular melanoma10.0MC1R, TYR
30basal cell carcinoma10.0TYR, MC1R
31microphthalmia10.0MC1R, TYR
32skin disease10.0MC1R, TYR
33skin cancer10.0TYR, OCA2, MC1R
34parkinson's disease9.9
35newcastle disease9.9
36subacute sclerosing panencephalitis9.9
37rabies9.9
38borna disease9.9
39measles9.9
40mumps9.9
41tuberculosis9.9
42colorectal cancer9.9
43lung cancer susceptibility9.9
44breast and colorectal cancer9.9
45prader-willi syndrome due to paternal deletion of 15q11q13 type 19.9
46prader-willi syndrome due to paternal deletion of 15q11q13 type 29.9
47prader-willi syndrome due to maternal uniparental disomy of chromosome 159.9

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

203200

Clinical synopsis from OMIM:

203200

Symptoms:

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

Drugs & Therapeutics for Oculocutaneous Albinism Type 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Oculocutaneous Albinism Type 2:

33
Skin, Retina

Animal Models for Oculocutaneous Albinism Type 2 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6MC1R, TYR, OCA2
2MP:00107718.6OCA2, TYR, MC1R
3MP:00053718.5OCA2, TYR, MC1R
4MP:00030128.3OCA2, TYR, MC1R

Publications for Oculocutaneous Albinism Type 2

Genetic Variations for Oculocutaneous Albinism Type 2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Oculocutaneous Albinism Type 2:

63 (show all 37)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG
See all sources

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

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

Compounds for genes affiliated with Oculocutaneous Albinism Type 2

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Oculocutaneous Albinism Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phaeomelanin459.2MC1R, TYR
2eumelanin459.2MC1R, TYR
3dopachrome459.1MC1R, TYR
4vitamin d459.1MC1R, TYR
5levodopa45 1110.0TYR, MC1R
6ibmx45 29 6010.8MC1R, TYR

GO Terms for genes affiliated with Oculocutaneous Albinism Type 2

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculocutaneous Albinism Type 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet