OCA2
MCID: ALB021
MIFTS: 58

Albinism, Oculocutaneous, Type Ii (OCA2)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ii

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Ii:

Name: Albinism, Oculocutaneous, Type Ii 57 39
Oca2 57 12 20 58 72
Oculocutaneous Albinism Type 2 73 20 58 70
Tyrosinase-Positive Oculocutaneous Albinism 20 29 6
Oculocutaneous Albinism Type Ii 12 72 15
Brown Oculocutaneous Albinism 72 6 70
Oculocutaneous Albinism, Type Ii, Modifier of 29 6
Oculocutaneous Albinism, Tyrosinase-Positive 57 12
Albinism, Brown Oculocutaneous 57 13
Albinism Ii 57 72
Albinoidism 20 70
Albinism, Oculocutaneous, Type Ii, Modifier of 57
Oculocutaneous Albinism, Tyrosinase Positive 73
Oculocutaneous Albinism Tyrosinase Positive 20
Oculocutaneous Albinism Tyrosinase-Positive 72
Oculocutaneous Albinism, Type Ii 57
Albinism, Oculocutaneous, Type 2 20
Albinism, Oculocutaneous, 2 72
Albinism 2 20
Oca-2 72
Boca 72

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype with regard to pigmentation
one of the 2 most common forms of oca in the world along with oca1
high frequency in equatorial africa
individuals may accumulate more pigment in hair and eyes with age
prevalence of 1 in 10,000 caucasians
prevalence of 1 in 10,000 african-americans
prevalence of 1 in 227 hopi indians
prevalence of 1 in 240 zuni indians
prevalence of 1 in 7,900 in cameroon
prevalence of 1 in 3,900 in south africa
prevalence of 1 in 1,429 in tanzania
prevalence of 1 in 2,833 in zimbabwe
see also oca1a


HPO:

31
albinism, oculocutaneous, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070096
OMIM® 57 203200
OMIM Phenotypic Series 57 PS203100
MeSH 44 D016115
MESH via Orphanet 45 C537730
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 71 C0268495
Orphanet 58 ORPHA79432
UMLS 70 C0268495 C0268497 C0268506

Summaries for Albinism, Oculocutaneous, Type Ii

OMIM® : 57 Tyrosinase-positive oculocutaneous albinism (OCA, type II) is 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 OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I (Lee et al., 1994; King et al., 2001). OCA type II has a highly variable phenotype. 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. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants (King et al., 2001). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., Witkop et al., 1978 and O'Donnell et al., 1978) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 (Lee et al., 1994; King et al., 2001). (203200) (Updated 20-May-2021)

MalaCards based summary : Albinism, Oculocutaneous, Type Ii, also known as oca2, is related to skin/hair/eye pigmentation, variation in, 1 and congenital nystagmus. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways is Melanin biosynthesis. The drugs Lamivudine and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and abnormality of retinal pigmentation

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13.

GARD : 20 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.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Albinism is the congenital absence of any pigmentation or colouration in a person, animal or plant,... more...

Related Diseases for Albinism, Oculocutaneous, Type Ii

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Ia
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Iii
Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type V
Oculocutaneous Albinism, Type Viii

Diseases related to Albinism, Oculocutaneous, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 skin/hair/eye pigmentation, variation in, 1 31.9 OCA2 HERC2
2 congenital nystagmus 31.9 TYR OCA2 MC1R
3 cataract 18 31.6 TYRP1 OCA2
4 albinism 31.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
5 acute conjunctivitis 31.3 TYRP1 TYR SLC45A2 OCA2
6 ichthyosis, congenital, autosomal recessive 11 31.3 SLC45A2 SLC24A5 OCA2
7 nystagmus 6, congenital, x-linked 31.1 TYRP1 TYR SLC45A2 OCA2 MC1R
8 piebald trait 31.1 TYRP1 TYR SLC45A2 OCA2 MC1R
9 skin carcinoma 31.1 TYRP1 TYR SLC45A2 OCA2 MC1R ASIP
10 waardenburg's syndrome 31.1 TYRP1 TYR SLC45A2 OCA2 MC1R
11 angelman syndrome 31.1 OCA2 MC1R HERC2 GABRG3 GABRA5
12 prader-willi syndrome 31.1 OCA2 HERC2 GABRG3 GABRA5
13 albinism, oculocutaneous, type ia 31.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2
14 albinism, oculocutaneous, type vii 31.0 TYRP1 TYR SLC45A2 SLC24A5 OCA2
15 acute contagious conjunctivitis 31.0 TYRP1 TYR SLC45A2 OCA2 HPS5
16 melanoma, cutaneous malignant 1 30.9 TYRP1 TYR SLC45A2 OCA2 MC1R ASIP
17 skin melanoma 30.9 TYRP1 TYR SLC45A2 OCA2 MC1R ASIP
18 albinism, oculocutaneous, type ib 30.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
19 albinism, oculocutaneous, type v 30.8 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
20 syndromic oculocutaneous albinism 30.8 SLC24A5 SLC24A4 OCA2 HPS6
21 pathologic nystagmus 30.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
22 griscelli syndrome 30.1 TYRP1 TYR SLC45A2 OCA2 HPS6 HPS4
23 ocular albinism 29.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
24 hypopigmentation of the skin 29.9 TYR HPS3
25 hermansky-pudlak syndrome 1 29.7 SLC45A2 SLC24A5 OCA2 HPS6 HPS5 HPS4
26 hermansky-pudlak syndrome 29.6 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
27 exotropia 29.5 HPS6 HPS5 HPS3
28 oculocutaneous albinism 29.4 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
29 albinism, oculocutaneous, type iii 29.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
30 albinism, oculocutaneous, type iv 28.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
31 brachymetapody-anodontia-hypotrichosis-albinoidism 11.2
32 melanoma 11.2
33 rabies 11.0
34 cole disease 10.9
35 glycine encephalopathy 10.8
36 superficial mycosis 10.8
37 autosomal recessive congenital ichthyosis 10.8
38 chorea gravidarum 10.8
39 arbitrary restriction polymorphism 1 10.2
40 autosomal recessive disease 10.2
41 ochronosis 10.2 TYRP1 TYR MC1R
42 tietz albinism-deafness syndrome 10.2 TYRP1 TYR SLC45A2
43 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 TYRP1 TYR MC1R
44 alternating exotropia 10.1
45 heterochromia iridis 10.1
46 strabismus 10.1
47 amelanotic melanoma 10.1
48 mechanical strabismus 10.1
49 refractive error 10.1
50 nodular malignant melanoma 10.1 TYR MC1R

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

Human phenotypes related to Albinism, Oculocutaneous, Type Ii:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
2 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
3 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
4 blue irides 58 31 frequent (33%) Frequent (79-30%) HP:0000635
5 heterochromia iridis 58 31 frequent (33%) Frequent (79-30%) HP:0001100
6 reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007663
7 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
8 white hair 58 31 frequent (33%) Frequent (79-30%) HP:0011364
9 white eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002226
10 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
11 abnormality of refraction 58 31 frequent (33%) Frequent (79-30%) HP:0000539
12 hypoplasia of the fovea 58 31 frequent (33%) Frequent (79-30%) HP:0007750
13 macular hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007988
14 optic nerve misrouting 58 31 frequent (33%) Frequent (79-30%) HP:0025551
15 iris transillumination defect 58 31 frequent (33%) Frequent (79-30%) HP:0012805
16 white eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0002227
17 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
18 absent skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0200098
19 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
20 cutaneous melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012056
21 posterior staphyloma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030856
22 hyperpigmented nevi 58 31 very rare (1%) Very rare (<4-1%) HP:0007481
23 strabismus 31 HP:0000486
24 myopia 31 HP:0000545
25 hypopigmentation of hair 58 Frequent (79-30%)
26 hypopigmentation of the fundus 31 HP:0007894
27 hypopigmentation of the skin 58 Frequent (79-30%)
28 red hair 31 HP:0002297
29 exotropia 31 HP:0000577
30 albinism 31 HP:0001022
31 freckles in sun-exposed areas 31 HP:0007603

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
strabismus
foveal hypoplasia
decreased visual acuity
decreased retinal pigmentation
more
Skin Nails Hair Hair:
white to golden blonde or red hair
hair darkens with age
'yellow' hair occurs in individuals of african descent

Skin Nails Hair Skin:
freckles in sun-exposed areas
white at birth
tone does not appreciably change with age
no tanning

Laboratory Abnormalities:
hair bulbs will pigment when incubated with tyrosine

Clinical features from OMIM®:

203200 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ASIP GABRG3 HERC2 HPS4 HPS5 HPS6
2 craniofacial MP:0005382 10.16 ASIP HPS4 HPS5 HPS6 MC1R OCA2
3 homeostasis/metabolism MP:0005376 10.13 ASIP HERC2 HPS3 HPS4 HPS5 HPS6
4 hearing/vestibular/ear MP:0005377 10.1 ASIP GABRA5 HPS4 HPS5 HPS6 MC1R
5 hematopoietic system MP:0005397 10.07 ASIP HPS3 HPS4 HPS5 HPS6 MC1R
6 integument MP:0010771 10 ASIP HPS3 HPS4 HPS5 HPS6 MC1R
7 pigmentation MP:0001186 9.7 ASIP HPS3 HPS4 HPS5 HPS6 MC1R
8 no phenotypic analysis MP:0003012 9.63 GABRA5 HPS3 HPS5 MC1R OCA2 TYR
9 vision/eye MP:0005391 9.32 ASIP HPS3 HPS4 HPS5 HPS6 OCA2

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ii

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational Phase 1, Phase 2 134678-17-4 60825
2 Rho(D) Immune Globulin Phase 1, Phase 2
3 Immunoglobulins Phase 1, Phase 2
4 Immunologic Factors Phase 1, Phase 2
5 Liver Extracts Phase 1, Phase 2
6 Immunoglobulin G Phase 1, Phase 2
7 Immunoglobulins, Intravenous Phase 1, Phase 2
8 gamma-Globulins Phase 1, Phase 2
9 Antibodies Phase 1, Phase 2
10 Nutrients
11 Soy Bean

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Assess the Pharmacokinetics of Intravenous Nabi 5% Hepatitis B Immune Globulin Used in Combination With Lamivudine Completed NCT01421212 Phase 1, Phase 2
2 Influence of Leukocyte- and Platelet Rich Fibrin (L-PRF) on the Outcomes of Impacted Mandibular Third Molar Removal Surgery: a Split-mouth Randomized Clinical Trial Unknown status NCT03357484
3 The Effects of Consuming Beef vs. Soy-rich Lunch Meals, Matched for Macronutrient Content or Serving Size, on Markers of Appetite Control and Satiety Completed NCT02285907
4 A Study to Investigate the Benefit Of Complex Fractionated Atrial Electrogram (CFAE) Ablation in Addition to Circumferential Pulmonary Vein and Linear Ablations in the Treatment of Persistent Atrial Fibrillation. (BOCA) Completed NCT01711047
5 Longitudinal Cognitive Assessment by BoCA Recruiting NCT04114994

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ii

Genetic Tests for Albinism, Oculocutaneous, Type Ii

Genetic tests related to Albinism, Oculocutaneous, Type Ii:

# Genetic test Affiliating Genes
1 Tyrosinase-Positive Oculocutaneous Albinism 29 MC1R OCA2
2 Oculocutaneous Albinism, Type Ii, Modifier of 29

Anatomical Context for Albinism, Oculocutaneous, Type Ii

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

40
Skin, Eye, Retina, Breast, Skeletal Muscle, Liver, Bone

Publications for Albinism, Oculocutaneous, Type Ii

Articles related to Albinism, Oculocutaneous, Type Ii:

(show top 50) (show all 406)
# Title Authors PMID Year
1
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients. 57 61 6
21085994 2011
2
Synergistic interaction of the OCA2 and OCA3 genes in a family. 61 6 57
18680187 2008
3
Genetic determinants of hair, eye and skin pigmentation in Europeans. 61 6 57
17952075 2007
4
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. 61 57 6
12713581 2003
5
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. 57 6 61
12469324 2003
6
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. 6 61 57
11179026 2001
7
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. 61 57 6
10649493 2000
8
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). 6 57 61
7874125 1994
9
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. 61 57 6
7920637 1994
10
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 6 57
8302318 1994
11
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 61 6
30414346 2019
12
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. 6 61
28266639 2017
13
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. 61 6
28451379 2017
14
Importance of nonsynonymous OCA2 variants in human eye color prediction. 6 61
27468418 2016
15
Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations. 6 61
26818737 2016
16
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. 6 61
26165494 2015
17
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. 6 61
25919014 2015
18
An intracellular anion channel critical for pigmentation. 61 6
25513726 2014
19
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. 6 61
24361966 2014
20
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. 61 6
24118800 2014
21
[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis]. 6 61
23744323 2013
22
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 61 6
23504663 2013
23
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. 61 6
22734612 2012
24
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. 61 6
20426782 2010
25
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 6 61
19865097 2010
26
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 6 61
19060277 2009
27
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 6 61
18463683 2008
28
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 61 6
18326704 2008
29
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. 6 61
17767372 2007
30
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. 61 6
17568986 2007
31
P gene mutations associated with oculocutaneous albinism type II (OCA2). 6 61
15712365 2005
32
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. 6 61
15942220 2005
33
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). 61 6
12876664 2003
34
Oculocutaneous Albinism Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301410 2003
35
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. 61 6
9345097 1997
36
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. 61 57
9099845 1997
37
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. 61 6
8980282 1997
38
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). 6 61
9259203 1997
39
Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans. 57 61
8723691 1996
40
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. 61 57
8592327 1995
41
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). 57 61
7762554 1995
42
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. 57 61
7887411 1995
43
A melanosomal two-pore sodium channel regulates pigmentation. 6
27231233 2016
44
Evidence of macular pigment in the central macula in albinism. 6
26474496 2016
45
Is the MC1R variant p.R160W associated with Parkinson's? 6
26389967 2016
46
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. 6
26197705 2015
47
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. 6
25631192 2015
48
Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. 6
24439955 2014
49
Relationship between foveal cone specialization and pit morphology in albinism. 6
24845642 2014
50
Molecular and clinical characterization of albinism in a large cohort of Italian patients. 6
20861488 2011

Variations for Albinism, Oculocutaneous, Type Ii

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

6 (show top 50) (show all 174)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OCA2 NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del Deletion Pathogenic 634816 GRCh37: 15:28260053-28266235
GRCh38:
2 OCA2 NM_000275.3(OCA2):c.1044+1G>T SNV Pathogenic 209970 rs185504549 GRCh37: 15:28259921-28259921
GRCh38: 15:28014775-28014775
3 OCA2 NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs) Deletion Pathogenic 627600 rs1595774445 GRCh37: 15:28234806-28234809
GRCh38: 15:27989660-27989663
4 OCA2 NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) SNV Pathogenic 803060 rs142988897 GRCh37: 15:28090178-28090178
GRCh38: 15:27845032-27845032
5 OCA2 NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs) Deletion Pathogenic 952 rs1555375711 GRCh37: 15:28263543-28263703
GRCh38: 15:28018397-28018557
6 OCA2 NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs) Deletion Pathogenic 952 rs1555375711 GRCh37: 15:28263543-28263703
GRCh38: 15:28018397-28018557
7 OCA2 NM_000275.2(OCA2):c.647-?_890+?del Deletion Pathogenic 211772 GRCh37:
GRCh38:
8 OCA2 NM_000275.2(OCA2):c.647-?_807+?del Deletion Pathogenic 211771 GRCh37:
GRCh38:
9 OCA2 NM_000275.3(OCA2):c.121_128del (p.Gly41fs) Deletion Pathogenic 436097 rs1555392037 GRCh37: 15:28326893-28326900
GRCh38: 15:28081747-28081754
10 OCA2 NM_000275.3(OCA2):c.171del (p.Gln58fs) Deletion Pathogenic 436098 rs1555391997 GRCh37: 15:28326850-28326850
GRCh38: 15:28081704-28081704
11 OCA2 NM_000275.3(OCA2):c.807+1G>T SNV Pathogenic 436095 rs763219039 GRCh37: 15:28263542-28263542
GRCh38: 15:28018396-28018396
12 OCA2 NM_000275.3(OCA2):c.2080-1G>A SNV Pathogenic 436092 rs1555422232 GRCh37: 15:28117069-28117069
GRCh38: 15:27871923-27871923
13 OCA2 NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln) Inversion Pathogenic 436100 GRCh37: 15:28261319-28261320
GRCh38: 15:28016173-28016174
14 OCA2 NG_009846.1:g.103171_225796del Deletion Pathogenic 959 GRCh37: 15:28123663-28246288
GRCh38: 15:27878517-28001142
15 OCA2 nsv1197574 Deletion Pathogenic 30906 GRCh37: 15:28119938-28303785
GRCh38: 15:27874792-28058639
16 OCA2 Deletion Pathogenic 217806 GRCh37:
GRCh38: 15:27926498-28073963
17 OCA2 NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del Deletion Pathogenic 627606 GRCh37: 15:28231692-28235802
GRCh38: 15:27986546-27990656
18 OCA2 NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del Deletion Pathogenic 627607 GRCh37: 15:28096556-28116982
GRCh38: 15:27851410-27871836
19 OCA2 NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) SNV Pathogenic 956 rs121918167 GRCh37: 15:28116316-28116316
GRCh38: 15:27871170-27871170
20 OCA2 NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) Indel Pathogenic 198707 rs797044784 GRCh37: 15:28261318-28261321
GRCh38: 15:28016172-28016175
21 OCA2 NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) SNV Pathogenic 956 rs121918167 GRCh37: 15:28116316-28116316
GRCh38: 15:27871170-27871170
22 OCA2 NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) SNV Pathogenic 961 rs121918170 GRCh37: 15:28228529-28228529
GRCh38: 15:27983383-27983383
23 OCA2 NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) SNV Pathogenic 961 rs121918170 GRCh37: 15:28228529-28228529
GRCh38: 15:27983383-27983383
24 OCA2 NM_000275.3(OCA2):c.1182+1G>A SNV Pathogenic 436099 rs371963034 GRCh37: 15:28234746-28234746
GRCh38: 15:27989600-27989600
25 OCA2 NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) SNV Pathogenic 211767 rs763819379 GRCh37: 15:28228567-28228567
GRCh38: 15:27983421-27983421
26 OCA2 NM_000275.3(OCA2):c.2055del (p.Phe685fs) Deletion Pathogenic 430966 rs772595552 GRCh37: 15:28171297-28171297
GRCh38: 15:27926151-27926151
27 OCA2 NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) SNV Pathogenic 965 rs121918171 GRCh37: 15:28234747-28234747
GRCh38: 15:27989601-27989601
28 OCA2 NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) SNV Pathogenic 958 rs121918168 GRCh37: 15:28259965-28259965
GRCh38: 15:28014819-28014819
29 OCA2 NM_000275.3(OCA2):c.1960del (p.Ala654fs) Deletion Pathogenic 957 rs387906241 GRCh37: 15:28171392-28171392
GRCh38: 15:27926246-27926246
30 OCA2 NM_000275.3(OCA2):c.1842+1G>T SNV Pathogenic 953 rs387906240 GRCh37: 15:28200303-28200303
GRCh38: 15:27955157-27955157
31 OCA2 NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) SNV Pathogenic 955 rs121918166 GRCh37: 15:28230247-28230247
GRCh38: 15:27985101-27985101
32 OCA2 NM_000275.3(OCA2):c.1503+5G>A SNV Pathogenic/Likely pathogenic 211768 rs368124046 GRCh37: 15:28228486-28228486
GRCh38: 15:27983340-27983340
33 MC1R NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) SNV Likely pathogenic 449207 rs34540312 GRCh37: 16:89985931-89985931
GRCh38: 16:89919523-89919523
34 OCA2 NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) SNV Likely pathogenic 429697 rs776814755 GRCh37: 15:28096536-28096536
GRCh38: 15:27851390-27851390
35 OCA2 NM_000275.3(OCA2):c.890+1G>A SNV Likely pathogenic 916725 GRCh37: 15:28261249-28261249
GRCh38: 15:28016103-28016103
36 OCA2 NM_000275.3(OCA2):c.1503+5G>A SNV Likely pathogenic 211768 rs368124046 GRCh37: 15:28228486-28228486
GRCh38: 15:27983340-27983340
37 OCA2 NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) SNV Likely pathogenic 195557 rs780296175 GRCh37: 15:28116337-28116337
GRCh38: 15:27871191-27871191
38 OCA2 NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) SNV Likely pathogenic 211766 rs144812594 GRCh37: 15:28231761-28231761
GRCh38: 15:27986615-27986615
39 OCA2 NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) SNV Likely pathogenic 960 rs121918169 GRCh37: 15:28171315-28171315
GRCh38: 15:27926169-27926169
40 OCA2 NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) SNV Likely pathogenic 617810 rs200457227 GRCh37: 15:28090177-28090177
GRCh38: 15:27845031-27845031
41 MC1R NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) SNV risk factor 14310 rs1805008 GRCh37: 16:89986144-89986144
GRCh38: 16:89919736-89919736
42 MC1R NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) SNV risk factor 14312 rs1805007 GRCh37: 16:89986117-89986117
GRCh38: 16:89919709-89919709
43 TYRP1 NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) SNV risk factor 17594 rs104894130 GRCh37: 9:12695626-12695626
GRCh38: 9:12695626-12695626
44 MC1R NM_002386.3(MC1R):c.880G>C (p.Asp294His) SNV Likely pathogenic 14307 rs1805009 GRCh37: 16:89986546-89986546
GRCh38: 16:89920138-89920138
45 OCA2 NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) SNV Likely pathogenic 436090 rs141949212 GRCh37: 15:28090198-28090198
GRCh38: 15:27845052-27845052
46 OCA2 NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) SNV Likely pathogenic 436090 rs141949212 GRCh37: 15:28090198-28090198
GRCh38: 15:27845052-27845052
47 OCA2 NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) SNV Likely pathogenic 211769 rs797045838 GRCh37: 15:28171340-28171340
GRCh38: 15:27926194-27926194
48 OCA2 NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) SNV Likely pathogenic 211770 rs797045839 GRCh37: 15:28090193-28090193
GRCh38: 15:27845047-27845047
49 OCA2 NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) SNV Likely pathogenic 195725 rs765779905 GRCh37: 15:28090112-28090112
GRCh38: 15:27844966-27844966
50 OCA2 NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) SNV Likely pathogenic 198063 rs183487020 GRCh37: 15:28267700-28267700
GRCh38: 15:28022554-28022554

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

72 (show all 39)
# 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 rs121918166
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 rs886043514
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 rs125594344
38 OCA2 p.Val633Ile VAR_072600 rs137220006
39 OCA2 p.Phe684Cys VAR_072601 rs772754008

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:

# Super pathways Score Top Affiliating Genes
1 9.62 TYRP1 TYR SLC45A2 OCA2

GO Terms for Albinism, Oculocutaneous, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.46 TYRP1 TYR SLC24A5 HPS4
2 dendrite membrane GO:0032590 9.32 GABRG3 GABRA5
3 GABA-A receptor complex GO:1902711 9.26 GABRG3 GABRA5
4 BLOC-2 complex GO:0031084 9.13 HPS6 HPS5 HPS3
5 melanosome membrane GO:0033162 8.92 TYRP1 TYR SLC45A2 OCA2

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

# Name GO ID Score Top Affiliating Genes
1 organelle organization GO:0006996 9.56 HPS6 HPS5 HPS4 HPS3
2 melanocyte differentiation GO:0030318 9.55 TYRP1 SLC24A5 OCA2 HPS6 HPS4
3 gamma-aminobutyric acid signaling pathway GO:0007214 9.48 GABRG3 GABRA5
4 melanosome organization GO:0032438 9.46 TYRP1 ASIP
5 synaptic transmission, GABAergic GO:0051932 9.43 GABRG3 GABRA5
6 melanin biosynthetic process GO:0042438 9.43 TYRP1 TYR SLC45A2 OCA2 MC1R ASIP
7 developmental pigmentation GO:0048066 9.4 SLC45A2 OCA2
8 positive regulation of melanin biosynthetic process GO:0048023 9.37 TYRP1 ASIP
9 eye pigment biosynthetic process GO:0006726 9.32 TYR OCA2
10 pigmentation GO:0043473 9.23 TYRP1 TYR OCA2 MC1R HPS6 HPS5

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

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor activity GO:0004890 9.37 GABRG3 GABRA5
2 GABA-gated chloride ion channel activity GO:0022851 9.32 GABRG3 GABRA5
3 benzodiazepine receptor activity GO:0008503 9.26 GABRG3 GABRA5
4 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.16 GABRG3 GABRA5
5 calcium, potassium:sodium antiporter activity GO:0008273 8.96 SLC24A5 SLC24A4
6 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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