OCA2
MCID: ALB021
MIFTS: 47

Albinism, Oculocutaneous, Type Ii (OCA2) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Albinism, Oculocutaneous, Type Ii

Aliases & Descriptions for Albinism, Oculocutaneous, Type Ii:

Name: Albinism, Oculocutaneous, Type Ii 54
Oculocutaneous Albinism Type 2 23 50 24 56 69
Oca2 23 50 24 56 66
Albinism, Oculocutaneous, Type Ii, Modifier of 54 24
Oculocutaneous Albinism Tyrosinase-Positive 66 29
Albinism, Brown Oculocutaneous 54 13
Brown Oculocutaneous Albinism 66 69
Albinoidism 50 69
Oculocutaneous Albinism Tyrosinase Positive 50
Tyrosinase-Positive Oculocutaneous Albinism 50
Oculocutaneous Albinism Type 2, Modifier 24
Albinism, Oculocutaneous, Type 2 50
Oculocutaneous Albinism Type Ii 66
Albinism, Oculocutaneous, 2 66
Albinism Ii 66
Albinism 2 50
Oca-2 66
Boca 66

Characteristics:

Orphanet epidemiological data:

56
oculocutaneous albinism type 2
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
albinism, oculocutaneous, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 203200
Orphanet 56 ORPHA79432
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 70 C0268495
MESH via Orphanet 43 C537730
MeSH 42 D016115

Summaries for Albinism, Oculocutaneous, Type Ii

OMIM : 54 Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis... (203200) more...

MalaCards based summary : Albinism, Oculocutaneous, Type Ii, also known as oculocutaneous albinism type 2, is related to brachymetapody-anodontia-hypotrichosis-albinoidism and albinism, oculocutaneous, type ia, and has symptoms including photophobia, nystagmus and visual impairment. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Melanin biosynthesis. The drugs Pravastatin and Erythromycin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are craniofacial and hearing/vestibular/ear

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 66 Albinism, oculocutaneous, 2: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.

GeneReviews: NBK1232

Related Diseases for Albinism, Oculocutaneous, Type Ii

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



Diseases related to Albinism, Oculocutaneous, Type Ii

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Ii

Symptoms by clinical synopsis from OMIM:

203200

Clinical features from OMIM:

203200

Human phenotypes related to Albinism, Oculocutaneous, Type Ii:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Frequent (79-30%) HP:0000613
2 nystagmus 56 32 Frequent (79-30%) HP:0000639
3 visual impairment 56 32 Frequent (79-30%) HP:0000505
4 strabismus 56 32 Frequent (79-30%) HP:0000486
5 melanoma 56 32 Occasional (29-5%) HP:0002861
6 iris hypopigmentation 56 32 Very frequent (99-80%) HP:0007730
7 squamous cell carcinoma of the skin 56 32 Occasional (29-5%) HP:0006739
8 freckling 56 32 Frequent (79-30%) HP:0001480
9 abnormality of the optic nerve 56 32 Frequent (79-30%) HP:0000587
10 basal cell carcinoma 56 32 Occasional (29-5%) HP:0002671
11 albinism 56 32 Frequent (79-30%) HP:0001022
12 reduced visual acuity 32 HP:0007663
13 hypopigmentation of hair 56 Frequent (79-30%)
14 blue irides 32 HP:0000635
15 hypoplasia of the fovea 32 HP:0007750
16 hypopigmentation of the fundus 32 HP:0007894
17 hypopigmentation of the skin 56 Frequent (79-30%)
18 red hair 32 HP:0002297
19 freckles in sun-exposed areas 32 HP:0007603

MGI Mouse Phenotypes related to Albinism, Oculocutaneous, Type Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 MC1R OCA2 TYRP1
2 hearing/vestibular/ear MP:0005377 9.33 MC1R OCA2 TYRP1
3 integument MP:0010771 9.13 MC1R OCA2 TYRP1
4 pigmentation MP:0001186 8.8 MC1R OCA2 TYRP1

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ii

Drugs for Albinism, Oculocutaneous, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
2
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
3
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
4
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
5
Angiotensin II Phase 1, Phase 2 68521-88-0, 11128-99-7 65143 172198
6 Analgesics Phase 1, Phase 2
7 N-monoacetylcystine Phase 1, Phase 2
8 Gastrointestinal Agents Phase 1, Phase 2
9 Analgesics, Non-Narcotic Phase 1, Phase 2
10 Hormone Antagonists Phase 1, Phase 2
11 Hormones Phase 1, Phase 2
12 Peripheral Nervous System Agents Phase 1, Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
14 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
15 Angiotensin Receptor Antagonists Phase 1, Phase 2
16 Angiotensinogen Phase 1, Phase 2
17 Pharmaceutical Solutions Phase 1, Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
19 Erythromycin Estolate Phase 1, Phase 2
20 Erythromycin Ethylsuccinate Phase 1, Phase 2
21 Anti-Arrhythmia Agents Phase 1, Phase 2
22 Erythromycin stearate Phase 1, Phase 2
23 Anti-Bacterial Agents Phase 1, Phase 2
24 Hypolipidemic Agents Phase 1, Phase 2
25 Expectorants Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Anticholesteremic Agents Phase 1, Phase 2
28 Protective Agents Phase 1, Phase 2
29 Antidotes Phase 1, Phase 2
30 Anti-Inflammatory Agents Phase 1, Phase 2
31 Antihypertensive Agents Phase 1, Phase 2
32 Leukotriene Antagonists Phase 1, Phase 2
33 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
34 Lipid Regulating Agents Phase 1, Phase 2
35 Antimetabolites Phase 1, Phase 2
36 Lipoxygenase Inhibitors Phase 1, Phase 2
37 Respiratory System Agents Phase 1, Phase 2
38 Antirheumatic Agents Phase 1, Phase 2
39 Antiviral Agents Phase 1, Phase 2
40 Antioxidants Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ii

Genetic Tests for Albinism, Oculocutaneous, Type Ii

Genetic tests related to Albinism, Oculocutaneous, Type Ii:

id Genetic test Affiliating Genes
1 Tyrosinase-Positive Oculocutaneous Albinism 29
2 Oculocutaneous Albinism Type 2 24 OCA2
3 Oculocutaneous Albinism Type 2, Modifier 24 MC1R

Anatomical Context for Albinism, Oculocutaneous, Type Ii

MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Ii:

39
Skin, Eye, Retina

Publications for Albinism, Oculocutaneous, Type Ii

Variations for Albinism, Oculocutaneous, Type Ii

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

66 (show all 39)
id Symbol AA change Variation ID SNP ID
1 OCA2 p.Gly27Arg VAR_006117 rs61738394
2 OCA2 p.Ser86Arg VAR_006118 rs772243109
3 OCA2 p.Cys112Phe VAR_006119 rs562649990
4 OCA2 p.Ala368Val VAR_006124 rs61745150
5 OCA2 p.Phe385Ile VAR_006125 rs137956605
6 OCA2 p.Met395Leu VAR_006126 rs757286784
7 OCA2 p.Thr404Met VAR_006127 rs144812594
8 OCA2 p.Arg419Trp VAR_006129 rs143218168
9 OCA2 p.Val443Ile VAR_006132 rs28934272
10 OCA2 p.Met446Val VAR_006133 rs140566426
11 OCA2 p.Ile473Ser VAR_006134
12 OCA2 p.Asn489Asp VAR_006135 rs121918170
13 OCA2 p.His549Gln VAR_006136
14 OCA2 p.Thr592Ile VAR_006137 rs1800413
15 OCA2 p.Lys614Asn VAR_006138
16 OCA2 p.Trp652Arg VAR_006140
17 OCA2 p.Trp679Arg VAR_006141 rs751822606
18 OCA2 p.Ala724Pro VAR_006143
19 OCA2 p.Ser736Leu VAR_006144 rs780296175
20 OCA2 p.Pro743Leu VAR_006145 rs121918167
21 OCA2 p.Ala787Val VAR_006146 rs200457227
22 OCA2 p.Ala481Thr VAR_007940 rs74653330
23 OCA2 p.Arg10Trp VAR_020622 rs554862186
24 OCA2 p.Pro198Leu VAR_020623 rs183487020
25 OCA2 p.Pro211Leu VAR_020624 rs190612616
26 OCA2 p.Arg290Gly VAR_020625 rs769408559
27 OCA2 p.Ala334Val VAR_020626 rs121918168
28 OCA2 p.Met394Ile VAR_020630 rs121918171
29 OCA2 p.Lys614Glu VAR_020631
30 OCA2 p.Ile617Leu VAR_020632 rs763016773
31 OCA2 p.Trp679Cys VAR_020634 rs121918169
32 OCA2 p.Arg720Cys VAR_020636 rs141545475
33 OCA2 p.Gly795Arg VAR_020637
34 OCA2 p.Gln799His VAR_020638
35 OCA2 p.Asn476Asp VAR_043700
36 OCA2 p.Gly775Arg VAR_043701
37 OCA2 p.Tyr827His VAR_043702
38 OCA2 p.Val633Ile VAR_072600
39 OCA2 p.Phe684Cys VAR_072601 rs772754008

ClinVar genetic disease variations for Albinism, Oculocutaneous, Type Ii:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 OCA2 NM_000275.2(OCA2): c.647_807del161 (p.Ser216Cysfs) deletion Pathogenic
2 OCA2 NM_000275.2(OCA2): c.1842+1G> T single nucleotide variant Pathogenic rs387906240 GRCh37 Chromosome 15, 28200303: 28200303
3 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
4 OCA2 NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918167 GRCh37 Chromosome 15, 28116316: 28116316
5 OCA2 NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs) deletion Pathogenic rs387906241 GRCh37 Chromosome 15, 28171392: 28171392
6 OCA2 NM_000275.2(OCA2): c.1001C> T (p.Ala334Val) single nucleotide variant Pathogenic rs121918168 GRCh37 Chromosome 15, 28259965: 28259965
7 OCA2 NG_009846.1: g.103171_225796del deletion Pathogenic GRCh37 Chromosome 15, 28123663: 28246288
8 OCA2 NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys) single nucleotide variant Pathogenic rs121918169 GRCh37 Chromosome 15, 28171315: 28171315
9 OCA2 NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp) single nucleotide variant Pathogenic rs121918170 GRCh37 Chromosome 15, 28228529: 28228529
10 OCA2 NM_000275.2(OCA2): c.1182G> A (p.Met394Ile) single nucleotide variant Pathogenic rs121918171 GRCh37 Chromosome 15, 28234747: 28234747
11 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic,risk factor rs104894130 GRCh37 Chromosome 9, 12695626: 12695626
12 OCA2 NC_000015.10: g.27874792_28058639del deletion Pathogenic GRCh38 Chromosome 15, 27874792: 28058639
13 OCA2 NM_000275.2(OCA2): c.867delC (p.Ser289Argfs) deletion Pathogenic rs794727898 GRCh38 Chromosome 15, 28016127: 28016127
14 OCA2 NM_000275.2(OCA2): c.1969G> C (p.Gly657Arg) single nucleotide variant Likely pathogenic rs879253729 GRCh38 Chromosome 15, 27926237: 27926237
15 OCA2 NM_000275.2(OCA2): c.1044+1G> T single nucleotide variant Pathogenic rs185504549 GRCh38 Chromosome 15, 28014775: 28014775
16 OCA2 NM_000275.2(OCA2): c.647-?_890+?del deletion Pathogenic
17 OCA2 NM_000275.2(OCA2): c.647-?_807+?del deletion Pathogenic
18 OCA2 NM_000275.2(OCA2): c.2344G> A (p.Gly782Arg) single nucleotide variant Likely pathogenic rs797045839 GRCh38 Chromosome 15, 27845047: 27845047
19 OCA2 NM_000275.2(OCA2): c.2012A> T (p.Glu671Val) single nucleotide variant Likely pathogenic rs797045838 GRCh37 Chromosome 15, 28171340: 28171340
20 OCA2 NM_000275.2(OCA2): c.1503+5G> A single nucleotide variant Pathogenic rs368124046 GRCh37 Chromosome 15, 28228486: 28228486
21 OCA2 NM_000275.2(OCA2): c.1427A> G (p.Asn476Ser) single nucleotide variant Pathogenic rs763819379 GRCh38 Chromosome 15, 27983421: 27983421
22 OCA2 NM_000275.2(OCA2): c.1211C> T (p.Thr404Met) single nucleotide variant Likely pathogenic rs144812594 GRCh37 Chromosome 15, 28231761: 28231761
23 OCA2 NC_000015.10 deletion Pathogenic GRCh38 Chromosome 15, 27926498: 28073963

Expression for Albinism, Oculocutaneous, Type Ii

Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Ii.

Pathways for Albinism, Oculocutaneous, Type Ii

Pathways related to Albinism, Oculocutaneous, Type Ii according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.31 MC1R TYRP1
2 9.32 OCA2 TYRP1

GO Terms for Albinism, Oculocutaneous, Type Ii

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

id Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 8.96 OCA2 TYRP1
2 melanosome membrane GO:0033162 8.62 OCA2 TYRP1

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

id Name GO ID Score Top Affiliating Genes
1 melanocyte differentiation GO:0030318 9.16 OCA2 TYRP1
2 pigmentation GO:0043473 9.13 MC1R OCA2 TYRP1
3 melanin biosynthetic process GO:0042438 8.8 MC1R OCA2 TYRP1

Sources for Albinism, Oculocutaneous, Type Ii

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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