MCID: ALB021
MIFTS: 40

Albinism, Oculocutaneous, Type Ii malady

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ii

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 20GeneTests, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Albinism, Oculocutaneous, Type Ii, Aliases & Descriptions:

Name: Albinism, Oculocutaneous, Type Ii 45
Oculocutaneous Albinism Type 2 19 41 47 60
Oca2 19 41 47
Tyrosinase-Positive Oculocutaneous Albinism 41 22
Albinism, Oculocutaneous, Type 2 41 20
 
Albinism, Brown Oculocutaneous 45 10
Albinoidism 41 60
Albinism, Oculocutaneous, Type Ii, Modifier of 45
Oculocutaneous Albinism Tyrosinase Positive 41
Albinism 2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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


External Ids:

OMIM45 203200
Orphanet47 79432
MESH via Orphanet34 C537730
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C0268495

Summaries for Albinism, Oculocutaneous, Type Ii

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OMIM:45 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 oculocutaneous albinism and congenital nystagmus, and has symptoms including ocular albinism, visual impairment and photophobia. An important gene associated with Albinism, Oculocutaneous, Type Ii is MC1R (melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)). Affiliated tissues include skin, eye and retina, and related mouse phenotypes are pigmentation and craniofacial.

NIH Rare Diseases:41 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

GeneReviews summary for oca2

Related Diseases for Albinism, Oculocutaneous, Type Ii

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



Diseases related to albinism, oculocutaneous, type ii

Symptoms for Albinism, Oculocutaneous, Type Ii

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Symptoms by clinical synopsis from OMIM:

203200

Clinical features from OMIM:

203200

Symptoms:

 47 (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 Albinism, Oculocutaneous, Type Ii:

(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 Albinism, Oculocutaneous, Type Ii

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Drug clinical trials:

Search ClinicalTrials for Albinism, Oculocutaneous, Type Ii

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ii

Genetic Tests for Albinism, Oculocutaneous, Type Ii

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Genetic tests related to Albinism, Oculocutaneous, Type Ii:

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

Anatomical Context for Albinism, Oculocutaneous, Type Ii

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

31
Skin, Eye, Retina

Animal Models for Albinism, Oculocutaneous, Type Ii or affiliated genes

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0MC1R, OCA2
2MP:00053829.0MC1R, OCA2
3MP:00053778.9MC1R, OCA2
4MP:00053718.7MC1R, OCA2

Publications for Albinism, Oculocutaneous, Type Ii

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Variations for Albinism, Oculocutaneous, Type Ii

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

62 (show all 39)
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
38OCA2p.Val633IleVAR_072600
39OCA2p.Phe684CysVAR_072601

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1MC1RNM_002386.3(MC1R): c.478C> T (p.Arg160Trp)single nucleotide variantPathogenic, risk factorrs1805008GRCh37Chr 16, 89986144: 89986144
2MC1RNM_002386.3(MC1R): c.451C> T (p.Arg151Cys)single nucleotide variantPathogenic, risk factorrs1805007GRCh37Chr 16, 89986117: 89986117
3OCA2OCA2, 184-KB DELdeletionPathogenic
4OCA2OCA2, 2.7-KB DEL, EX7DELdeletionPathogenic
5OCA2NM_000275.2(OCA2): c.1842+1G> Tsingle nucleotide variantPathogenicrs387906240GRCh37Chr 15, 28200303: 28200303
6OCA2NM_000275.2(OCA2): c.1441G> A (p.Ala481Thr)single nucleotide variantPathogenicrs74653330GRCh37Chr 15, 28228553: 28228553
7OCA2NM_000275.2(OCA2): c.1327G> A (p.Val443Ile)single nucleotide variantPathogenicrs121918166GRCh37Chr 15, 28230247: 28230247
8OCA2NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu)single nucleotide variantPathogenicrs121918167GRCh37Chr 15, 28116316: 28116316
9OCA2NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs)deletionPathogenicrs387906241GRCh37Chr 15, 28171392: 28171392
10OCA2NM_000275.2(OCA2): c.1001C> T (p.Ala334Val)single nucleotide variantPathogenicrs121918168GRCh37Chr 15, 28259965: 28259965
11OCA2NG_009846.1: g.103171_225796deldeletionPathogenicGRCh37Chr 15, 28123663: 28246288
12OCA2NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys)single nucleotide variantPathogenicrs121918169GRCh37Chr 15, 28171315: 28171315
13OCA2NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp)single nucleotide variantPathogenicrs121918170GRCh37Chr 15, 28228529: 28228529
14OCA2NM_000275.2(OCA2): c.1182G> A (p.Met394Ile)single nucleotide variantPathogenicrs121918171GRCh37Chr 15, 28234747: 28234747

Expression for genes affiliated with Albinism, Oculocutaneous, Type Ii

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

Pathways for genes affiliated with Albinism, Oculocutaneous, Type Ii

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Compounds for genes affiliated with Albinism, Oculocutaneous, Type Ii

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GO Terms for genes affiliated with Albinism, Oculocutaneous, Type Ii

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

idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:00424389.0MC1R, OCA2

Products for genes affiliated with Albinism, Oculocutaneous, Type Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Albinism, Oculocutaneous, Type Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet