OCA2
MCID: ALB021
MIFTS: 59

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 73
Oculocutaneous Albinism Type 2 74 20 58 71
Tyrosinase-Positive Oculocutaneous Albinism 20 29 6
Oculocutaneous Albinism Type Ii 12 73 15
Brown Oculocutaneous Albinism 73 6 71
Oculocutaneous Albinism, Type Ii, Modifier of 29 6
Oculocutaneous Albinism, Tyrosinase-Positive 57 12
Albinism, Brown Oculocutaneous 57 13
Albinism Ii 57 73
Albinoidism 20 71
Albinism, Oculocutaneous, Type Ii, Modifier of 57
Oculocutaneous Albinism, Tyrosinase Positive 74
Oculocutaneous Albinism Tyrosinase Positive 20
Oculocutaneous Albinism Tyrosinase-Positive 73
Oculocutaneous Albinism, Type Ii 57
Albinism, Oculocutaneous, Type 2 20
Albinism, Oculocutaneous, 2 73
Albinism 2 20
Oca-2 73
Boca 73

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 05-Mar-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 72 C0268495
Orphanet 58 ORPHA79432
UMLS 71 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 05-Mar-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 Liver Extracts 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 : 73 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 : 74 Albinism is the "congenital absence of any pigmentation or coloration 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 83)
# 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 melanoma 31.4 TYRP1 TYR SLC45A2 OCA2 MC1R ASIP
6 acute conjunctivitis 31.3 TYRP1 TYR SLC45A2 OCA2
7 ichthyosis, congenital, autosomal recessive 11 31.3 SLC45A2 SLC24A5 OCA2
8 skin melanoma 31.2 TYRP1 TYR SLC45A2 OCA2 MC1R
9 nystagmus 6, congenital, x-linked 31.1 TYRP1 TYR SLC45A2 OCA2 MC1R
10 piebald trait 31.1 TYRP1 TYR SLC45A2 OCA2 MC1R
11 waardenburg's syndrome 31.1 TYRP1 TYR SLC45A2 OCA2 MC1R
12 prader-willi syndrome 31.1 OCA2 HERC2 GABRG3 GABRA5
13 albinism, oculocutaneous, type ia 31.0 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 angelman syndrome 30.9 OCA2 MC1R HERC2 GABRG3 GABRA5
18 albinism, oculocutaneous, type ib 30.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
19 albinism, oculocutaneous, type v 30.8 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
20 syndromic oculocutaneous albinism 30.7 SLC24A5 SLC24A4 OCA2 HPS6
21 amelanotic melanoma 30.1 TYRP1 TYR
22 griscelli syndrome 30.0 TYRP1 TYR SLC45A2 OCA2 HPS6 HPS4
23 hypopigmentation of the skin 30.0 TYR HPS3
24 skin carcinoma 30.0 TYRP1 TYR SLC45A2 MC1R ASIP
25 ocular albinism 29.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
26 hermansky-pudlak syndrome 1 29.7 SLC45A2 SLC24A5 OCA2 HPS6 HPS5 HPS4
27 pathologic nystagmus 29.6 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
28 hermansky-pudlak syndrome 29.6 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
29 exotropia 29.5 HPS6 HPS5 HPS3
30 oculocutaneous albinism 29.4 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
31 albinism, oculocutaneous, type iii 29.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
32 albinism, oculocutaneous, type iv 28.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
33 brachymetapody-anodontia-hypotrichosis-albinoidism 11.2
34 rabies 11.0
35 retinal disease 11.0
36 cole disease 10.9
37 glycine encephalopathy 10.8
38 superficial mycosis 10.8
39 autosomal recessive congenital ichthyosis 10.8
40 chorea gravidarum 10.8
41 arbitrary restriction polymorphism 1 10.2
42 autosomal recessive disease 10.2
43 ochronosis 10.2 TYRP1 TYR MC1R
44 melanocytic nevus syndrome, congenital 10.2 TYR MC1R
45 tietz albinism-deafness syndrome 10.2 TYRP1 TYR SLC45A2
46 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 TYRP1 TYR MC1R
47 alternating exotropia 10.1
48 heterochromia iridis 10.1
49 strabismus 10.1
50 mechanical strabismus 10.1

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 05-Mar-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 05-Mar-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 behavior/neurological MP:0005386 10.18 ASIP GABRA5 HERC2 HPS6 MC1R OCA2
3 craniofacial MP:0005382 10.16 ASIP HPS4 HPS5 HPS6 MC1R OCA2
4 homeostasis/metabolism MP:0005376 10.13 ASIP HERC2 HPS3 HPS4 HPS5 HPS6
5 hearing/vestibular/ear MP:0005377 10.1 ASIP GABRA5 HPS4 HPS5 HPS6 MC1R
6 hematopoietic system MP:0005397 10.07 ASIP HPS3 HPS4 HPS5 HPS6 MC1R
7 integument MP:0010771 10 ASIP HPS3 HPS4 HPS5 HPS6 MC1R
8 pigmentation MP:0001186 9.7 ASIP HPS3 HPS4 HPS5 HPS6 MC1R
9 no phenotypic analysis MP:0003012 9.63 GABRA5 HPS3 HPS5 MC1R OCA2 TYR
10 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 Liver Extracts Phase 1, Phase 2
3 Immunoglobulin G Phase 1, Phase 2
4 Immunologic Factors Phase 1, Phase 2
5 Immunoglobulins Phase 1, Phase 2
6 gamma-Globulins Phase 1, Phase 2
7 Antibodies Phase 1, Phase 2
8 Immunoglobulins, Intravenous Phase 1, Phase 2
9 Rho(D) Immune Globulin Phase 1, Phase 2
10 Soy Bean
11 Nutrients

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, Liver, Breast, Bone, Skeletal Muscle

Publications for Albinism, Oculocutaneous, Type Ii

Articles related to Albinism, Oculocutaneous, Type Ii:

(show top 50) (show all 393)
# 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 6 61
21085994 2011
2
Synergistic interaction of the OCA2 and OCA3 genes in a family. 6 57 61
18680187 2008
3
Genetic determinants of hair, eye and skin pigmentation in Europeans. 61 6 57
17952075 2007
4
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. 61 6 57
12469324 2003
5
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. 61 57 6
11179026 2001
6
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. 6 57 61
10649493 2000
7
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. 57 6 61
7920637 1994
8
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 57 6
8302318 1994
9
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. 6 61
17568986 2007
10
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. 61 6
17767372 2007
11
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. 6 61
15942220 2005
12
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). 6 61
12876664 2003
13
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. 61 57
12713581 2003
14
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. 6 61
9345097 1997
15
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. 61 57
9099845 1997
16
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. 6 61
8980282 1997
17
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
18
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. 57 61
8592327 1995
19
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). 61 57
7762554 1995
20
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. 57 61
7887411 1995
21
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). 61 57
7874125 1994
22
Is the MC1R variant p.R160W associated with Parkinson's? 6
26389967 2016
23
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. 6
25631192 2015
24
Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. 6
24439955 2014
25
Genetic determinants of hair color and Parkinson's disease risk. 6
19194882 2009
26
Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. 57
18449927 2008
27
Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. 6
16463023 2006
28
Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans. 6
15994880 2005
29
High frequency of the Ala481Thr mutation of the P gene in the Japanese population. 6
12687678 2003
30
Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. 57
12506050 2003
31
Melanocortin 1 receptor variants in an Irish population. 6
9665397 1998
32
Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. 6
9571181 1998
33
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. 57
8198130 1994
34
Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism. 57
8428754 1993
35
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. 57
1415228 1992
36
Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? 57
1632442 1992
37
Absence of predictable phenotypic expression in proximal 15q duplications. 6
1773534 1991
38
Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation. 57
1910093 1991
39
Albinism and skin cancer in Southern Africa. 57
2766562 1989
40
Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. 57
3148727 1988
41
The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man. 57
3130302 1988
42
Albinism in the South African Negro. III. Genetic counselling issues. 57
6699045 1984
43
Prevalence of albinism in the South African negro. 57
7064008 1982
44
Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. 57
687204 1978
45
Albinism in Nigeria. A clinical and social study. 57
1174464 1975
46
Ocular albinism in a female. 57
5032699 1972
47
Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. 57
4624656 1972
48
Amish albinism: a distinctive autosomal recessive phenotype. 57
5516239 1970
49
Hopi indians, inbreeding, and albinism. 57
5773710 1969
50
ALBINISM AMONG INDIANS IN ARIZONA AND NEW MEXICO. 57
14255554 1965

Variations for Albinism, Oculocutaneous, Type Ii

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

6 (show top 50) (show all 173)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OCA2 NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del Deletion Pathogenic 634816 15:28260053-28266235
2 OCA2 NM_000275.3(OCA2):c.1842+1G>T SNV Pathogenic 953 rs387906240 15:28200303-28200303 15:27955157-27955157
3 OCA2 NM_000275.3(OCA2):c.1960del (p.Ala654fs) Deletion Pathogenic 957 rs387906241 15:28171392-28171392 15:27926246-27926246
4 OCA2 NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) SNV Pathogenic 958 rs121918168 15:28259965-28259965 15:28014819-28014819
5 OCA2 NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) SNV Pathogenic 965 rs121918171 15:28234747-28234747 15:27989601-27989601
6 OCA2 NM_000275.3(OCA2):c.2055del (p.Phe685fs) Deletion Pathogenic 430966 rs772595552 15:28171297-28171297 15:27926151-27926151
7 OCA2 NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs) Deletion Pathogenic 627600 rs1595774445 15:28234806-28234809 15:27989660-27989663
8 OCA2 NM_000275.3(OCA2):c.1044+1G>T SNV Pathogenic 209970 rs185504549 15:28259921-28259921 15:28014775-28014775
9 OCA2 NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) SNV Pathogenic 803060 rs142988897 15:28090178-28090178 15:27845032-27845032
10 OCA2 NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) SNV Pathogenic 956 rs121918167 15:28116316-28116316 15:27871170-27871170
11 OCA2 NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) SNV Pathogenic 961 rs121918170 15:28228529-28228529 15:27983383-27983383
12 OCA2 NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) Indel Pathogenic 198707 rs797044784 15:28261318-28261321 15:28016172-28016175
13 OCA2 NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs) Deletion Pathogenic 952 rs1555375711 15:28263543-28263703 15:28018397-28018557
14 OCA2 NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs) Deletion Pathogenic 952 rs1555375711 15:28263543-28263703 15:28018397-28018557
15 OCA2 NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) SNV Pathogenic 956 rs121918167 15:28116316-28116316 15:27871170-27871170
16 OCA2 NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) SNV Pathogenic 961 rs121918170 15:28228529-28228529 15:27983383-27983383
17 OCA2 NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) SNV Pathogenic 211767 rs763819379 15:28228567-28228567 15:27983421-27983421
18 OCA2 NM_000275.2(OCA2):c.647-?_890+?del Deletion Pathogenic 211772
19 OCA2 NM_000275.3(OCA2):c.121_128del (p.Gly41fs) Deletion Pathogenic 436097 rs1555392037 15:28326893-28326900 15:28081747-28081754
20 OCA2 NM_000275.3(OCA2):c.171del (p.Gln58fs) Deletion Pathogenic 436098 rs1555391997 15:28326850-28326850 15:28081704-28081704
21 OCA2 NM_000275.3(OCA2):c.807+1G>T SNV Pathogenic 436095 rs763219039 15:28263542-28263542 15:28018396-28018396
22 OCA2 NM_000275.3(OCA2):c.1182+1G>A SNV Pathogenic 436099 rs371963034 15:28234746-28234746 15:27989600-27989600
23 OCA2 NM_000275.3(OCA2):c.2080-1G>A SNV Pathogenic 436092 rs1555422232 15:28117069-28117069 15:27871923-27871923
24 OCA2 NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln) Inversion Pathogenic 436100 15:28261319-28261320 15:28016173-28016174
25 OCA2 NM_000275.2(OCA2):c.647-?_807+?del Deletion Pathogenic 211771
26 OCA2 NG_009846.1:g.103171_225796del Deletion Pathogenic 959 15:28123663-28246288 15:27878517-28001142
27 OCA2 nsv1197574 Deletion Pathogenic 30906 15:28119938-28303785 15:27874792-28058639
28 OCA2 Deletion Pathogenic 217806 15:27926498-28073963
29 OCA2 NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del Deletion Pathogenic 627606 15:28231692-28235802 15:27986546-27990656
30 OCA2 NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del Deletion Pathogenic 627607 15:28096556-28116982 15:27851410-27871836
31 OCA2 NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) SNV Pathogenic 955 rs121918166 15:28230247-28230247 15:27985101-27985101
32 OCA2 NM_000275.3(OCA2):c.1503+5G>A SNV Pathogenic/Likely pathogenic 211768 rs368124046 15:28228486-28228486 15:27983340-27983340
33 OCA2 NM_000275.3(OCA2):c.1503+5G>A SNV Likely pathogenic 211768 rs368124046 15:28228486-28228486 15:27983340-27983340
34 OCA2 NM_000275.3(OCA2):c.583A>G (p.Ser195Gly) SNV Likely pathogenic 627599 rs767092342 15:28267710-28267710 15:28022564-28022564
35 OCA2 NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser) SNV Likely pathogenic 973316 15:28230255-28230255 15:27985109-27985109
36 MC1R NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) SNV risk factor 14312 rs1805007 16:89986117-89986117 16:89919709-89919709
37 OCA2 NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) SNV Likely pathogenic 195557 rs780296175 15:28116337-28116337 15:27871191-27871191
38 MC1R NM_002386.3(MC1R):c.880G>C (p.Asp294His) SNV Likely pathogenic 14307 rs1805009 16:89986546-89986546 16:89920138-89920138
39 OCA2 NM_000275.3(OCA2):c.890+1G>A SNV Likely pathogenic 916725 15:28261249-28261249 15:28016103-28016103
40 MC1R NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) SNV risk factor 14310 rs1805008 16:89986144-89986144 16:89919736-89919736
41 TYRP1 NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) SNV risk factor 17594 rs104894130 9:12695626-12695626 9:12695626-12695626
42 OCA2 NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) SNV Likely pathogenic 436090 rs141949212 15:28090198-28090198 15:27845052-27845052
43 OCA2 NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) SNV Likely pathogenic 436090 rs141949212 15:28090198-28090198 15:27845052-27845052
44 OCA2 NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) SNV Likely pathogenic 211769 rs797045838 15:28171340-28171340 15:27926194-27926194
45 OCA2 NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) SNV Likely pathogenic 211766 rs144812594 15:28231761-28231761 15:27986615-27986615
46 OCA2 NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) SNV Likely pathogenic 211770 rs797045839 15:28090193-28090193 15:27845047-27845047
47 OCA2 NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) SNV Likely pathogenic 195725 rs765779905 15:28090112-28090112 15:27844966-27844966
48 OCA2 NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) SNV Likely pathogenic 198063 rs183487020 15:28267700-28267700 15:28022554-28022554
49 OCA2 NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) SNV Likely pathogenic 960 rs121918169 15:28171315-28171315 15:27926169-27926169
50 OCA2 NM_000275.3(OCA2):c.1657_1675del (p.Val553fs) Deletion Likely pathogenic 983522 15:28202843-28202861 15:27957697-27957715

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

73 (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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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