OCA2
MCID: OCL018
MIFTS: 54

Oculocutaneous Albinism Type 2 (OCA2) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases categories
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Summaries for Oculocutaneous Albinism Type 2

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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 based summary: Oculocutaneous Albinism Type 2, also known as tyrosinase-positive oculocutaneous albinism, is related to albinism, brown oculocutaneous and congenital nystagmus, and has symptoms including iris albinism/ocular albinism, autosomal recessive inheritance and optic nerve anomaly/optic atrophy/anomaly of the papilla. 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, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Oculocutaneous Albinism Type 2, Aliases & Descriptions:

Name: Oculocutaneous Albinism Type 2 19 42 48 62
Tyrosinase-Positive Oculocutaneous Albinism 42 22 62
Oca2 19 42 48
Albinism, Oculocutaneous, Type 2 42 20
 
Albinoidism 42 62
Oculocutaneous Albinism Tyrosinase Positive 42
Albinism, Oculocutaneous, Type Ii 46
Albinism 2 42


Classifications:



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


External Ids:

OMIM46 203200
MESH via Orphanet35 C537730
ICD10 via Orphanet26 E70.3
UMLS via Orphanet63 C0268495

Related Diseases for Oculocutaneous Albinism Type 2

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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 Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1albinism, brown oculocutaneous31.3HCL3, OCA2
2congenital nystagmus31.0OCA2
3albinism30.9TYR, OCA2, MC1R
4oculocutaneous albinism30.9MC1R, OCA2, TYR
5oculocutaneous albinism type 130.7TYR
6melanoma29.8MC1R, OCA2, TYR
7albinism, oculocutaneous, type ii, modifier of10.8
8angelman syndrome10.3
9sickle cell disease10.3
10brachymetapody anodontia hypotrichosis albinoidism10.3
11familial melanoma10.3
12prader-willi syndrome10.3
13acute conjunctivitis10.1
14tietze's syndrome10.0
15hypopigmentation of eyelid10.0
16piebaldism10.0
17griscelli syndrome type 110.0
18griscelli syndrome type 210.0
19hypomelanotic disorder10.0
20oculoosteocutaneous syndrome10.0
21estrogen-receptor negative breast cancer10.0
22breast cancer10.0
23prader-willi syndrome due to paternal deletion of 15q11q13 type 110.0
24prader-willi syndrome due to paternal deletion of 15q11q13 type 210.0
25prader-willi syndrome due to maternal uniparental disomy of chromosome 1510.0
26uveal melanoma9.9TYR, MC1R
27ocular albinism9.9OCA2, TYR
28microphthalmia9.9MC1R, TYR
29hermansky-pudlak syndrome9.9OCA2, TYR
30basal cell carcinoma9.9TYR, MC1R
31influenza9.8OCA2, TYR
32skin disease9.8TYR, MC1R

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



Diseases related to oculocutaneous albinism type 2

Symptoms for Oculocutaneous Albinism Type 2

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Symptoms by clinical synopsis from OMIM:

203200

Clinical features from OMIM:

203200

Symptoms:

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

HPO human phenotypes related to Oculocutaneous Albinism Type 2:

(show all 21)
id Description Frequency HPO Source Accession
1 ocular albinism hallmark (90%) HP:0001107
2 visual impairment typical (50%) HP:0000505
3 photophobia typical (50%) HP:0000613
4 nystagmus typical (50%) HP:0000639
5 optic atrophy typical (50%) HP:0000648
6 freckling typical (50%) HP:0001480
7 hypopigmentation of hair typical (50%) HP:0005599
8 strabismus occasional (7.5%) HP:0000486
9 melanoma occasional (7.5%) HP:0002861
10 neoplasm of the skin occasional (7.5%) HP:0008069
11 autosomal recessive inheritance HP:0000007
12 strabismus HP:0000486
13 visual impairment HP:0000505
14 blue irides HP:0000635
15 nystagmus HP:0000639
16 hypopigmentation of the skin HP:0001010
17 red hair HP:0002297
18 hypopigmentation of hair HP:0005599
19 freckles in sun-exposed areas HP:0007603
20 hypoplasia of the fovea HP:0007750
21 hypopigmentation of the fundus HP:0007894

Drugs & Therapeutics for Oculocutaneous Albinism Type 2

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Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism Type 2

Search NIH Clinical Center for Oculocutaneous Albinism Type 2

Genetic Tests for Oculocutaneous Albinism Type 2

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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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MalaCards organs/tissues related to Oculocutaneous Albinism Type 2:

32
Skin, Eye, Retina

Animal Models for Oculocutaneous Albinism Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 2:

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

Publications for Oculocutaneous Albinism Type 2

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Articles related to Oculocutaneous Albinism Type 2:

(show all 12)
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
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. (15942220)
2005
6
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. (12713581)
2003
7
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. (12469324)
2003
8
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). (12876664)
2003
9
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. (11384158)
2001
10
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. (11310796)
2001
11
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
12
Oculocutaneous Albinism Type 2 (20301410)
1993

Variations for Oculocutaneous Albinism Type 2

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

64 (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

Clinvar genetic disease variations for Oculocutaneous Albinism Type 2:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1OCA2OCA2, 184-KB DELdeletionPathogenic
2OCA2OCA2, 2.7-KB DEL, EX7DELdeletionPathogenic
3OCA2NM_000275.2(OCA2): c.1842+1G> Tsingle nucleotide variantPathogenicrs387906240GRCh37Chr 15, 28200303: 28200303
4OCA2NM_000275.2(OCA2): c.1441G> A (p.Ala481Thr)single nucleotide variantPathogenicrs74653330GRCh37Chr 15, 28228553: 28228553
5OCA2NM_000275.2(OCA2): c.1327G> A (p.Val443Ile)single nucleotide variantPathogenicrs121918166GRCh37Chr 15, 28230247: 28230247
6OCA2NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu)single nucleotide variantPathogenicrs121918167GRCh37Chr 15, 28116316: 28116316
7OCA2NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs)deletionPathogenicrs387906241GRCh37Chr 15, 28171392: 28171392
8OCA2NM_000275.2(OCA2): c.1001C> T (p.Ala334Val)single nucleotide variantPathogenicrs121918168GRCh37Chr 15, 28259965: 28259965
9OCA2NG_009846.1: g.103171_225796deldeletionPathogenicGRCh37Chr 15, 28123663: 28246288
10OCA2NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys)single nucleotide variantPathogenicrs121918169GRCh37Chr 15, 28171315: 28171315
11OCA2NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp)single nucleotide variantPathogenicrs121918170GRCh37Chr 15, 28228529: 28228529
12OCA2NM_000275.2(OCA2): c.1182G> A (p.Met394Ile)single nucleotide variantPathogenicrs121918171GRCh37Chr 15, 28234747: 28234747

Expression for genes affiliated with Oculocutaneous Albinism Type 2

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

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

Compounds for genes affiliated with Oculocutaneous Albinism Type 2

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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 61 2810.8MC1R, TYR

GO Terms for genes affiliated with Oculocutaneous Albinism Type 2

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

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

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

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:0082839.4OCA2, TYR
2eye pigment biosynthetic processGO:0067269.3OCA2, TYR
3melanin biosynthetic processGO:0424388.8MC1R, OCA2

Products for genes affiliated with Oculocutaneous Albinism Type 2

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet