MCID: ALB021
MIFTS: 45

Albinism, Oculocutaneous, Type Ii

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ii

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Ii:

Name: Albinism, Oculocutaneous, Type Ii 57 40
Oca2 57 12 24 53 59 75
Oculocutaneous Albinism Type 2 76 24 53 59 73
Tyrosinase-Positive Oculocutaneous Albinism 53 29 6
Brown Oculocutaneous Albinism 75 6 73
Oculocutaneous Albinism, Tyrosinase-Positive 57 12
Oculocutaneous Albinism Type Ii 12 75
Albinism, Brown Oculocutaneous 57 13
Albinism Ii 57 75
Albinoidism 53 73
Albinism, Oculocutaneous, Type Ii, Modifier of 57
Oculocutaneous Albinism, Type Ii, Modifier of 6
Oculocutaneous Albinism, Tyrosinase Positive 76
Oculocutaneous Albinism Tyrosinase Positive 53
Oculocutaneous Albinism Tyrosinase-Positive 75
Oculocutaneous Albinism, Type Ii 57
Albinism, Oculocutaneous, Type 2 53
Albinism, Oculocutaneous, 2 75
Albinism 2 53
Oca-2 75
Boca 75

Characteristics:

Orphanet epidemiological data:

59
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
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:

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


Classifications:



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)

MalaCards based summary : Albinism, Oculocutaneous, Type Ii, also known as oca2, is related to congenital nystagmus and ocular albinism. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways is Melanin biosynthesis. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and visual impairment

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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

Wikipedia : 76 Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment... more...

GeneReviews: NBK1232

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

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 congenital nystagmus 31.1 MC1R OCA2
2 ocular albinism 30.9 OCA2 TYRP1
3 dyschromatosis symmetrica hereditaria 30.9 OCA2 TYRP1
4 oculocutaneous albinism 30.8 MC1R OCA2 TYRP1
5 albinism 30.7 MC1R OCA2 TYRP1
6 acute conjunctivitis 30.5 MC1R OCA2
7 acute contagious conjunctivitis 30.4 MC1R OCA2
8 melanoma, cutaneous malignant 1 28.8 MC1R TYRP1
9 brachymetapody-anodontia-hypotrichosis-albinoidism 12.0
10 skin/hair/eye pigmentation, variation in, 1 11.2
11 dilution, pigmentary 11.0
12 albinism, oculocutaneous, type iii 11.0
13 prader-willi syndrome 10.9
14 hermansky-pudlak syndrome 1 10.9
15 panencephalitis, subacute sclerosing 10.9
16 glycine encephalopathy 10.9
17 piebald trait 10.9
18 cole disease 10.9
19 hypomelanotic disorder 10.9
20 trehalase deficiency 10.8
21 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 10.8
22 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 10.8
23 angelman syndrome due to maternal 15q11q13 deletion 10.8
24 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 10.8
25 melanoma 10.1
26 angelman syndrome 9.8
27 breast cancer 9.8
28 estrogen-receptor negative breast cancer 9.8
29 sickle cell disease 9.8
30 microphthalmia 9.0 MC1R TYRP1

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
translucent irides
foveal hypoplasia
decreased visual acuity
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

Human phenotypes related to Albinism, Oculocutaneous, Type Ii:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
3 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
4 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
5 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
6 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
7 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
8 freckling 59 32 frequent (33%) Frequent (79-30%) HP:0001480
9 abnormality of the optic nerve 59 32 frequent (33%) Frequent (79-30%) HP:0000587
10 albinism 59 32 frequent (33%) Frequent (79-30%) HP:0001022
11 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
12 reduced visual acuity 32 HP:0007663
13 hypopigmentation of hair 59 Frequent (79-30%)
14 blue irides 32 HP:0000635
15 hypopigmentation of the fundus 32 HP:0007894
16 hypoplasia of the fovea 32 HP:0007750
17 hypopigmentation of the skin 59 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:

46
# 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

Search Clinical Trials , 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

Anatomical Context for Albinism, Oculocutaneous, Type Ii

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

41
Skin, Eye, Retina, Testes

Publications for Albinism, Oculocutaneous, Type Ii

Articles related to Albinism, Oculocutaneous, Type Ii:

(show all 15)
# Title Authors Year
1
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
2
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
3
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
4
A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. ( 19397757 )
2009
5
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. ( 18407468 )
2008
6
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
7
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
8
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. ( 15942220 )
2005
9
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. ( 12469324 )
2003
10
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). ( 12876664 )
2003
11
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. ( 12713581 )
2003
12
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. ( 11310796 )
2001
13
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. ( 11384158 )
2001
14
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. ( 10905897 )
2000
15
Oculocutaneous Albinism Type 2 ( 20301410 )
1993

Variations for Albinism, Oculocutaneous, Type Ii

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

75 (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
38 OCA2 p.Val633Ile VAR_072600
39 OCA2 p.Phe684Cys VAR_072601 rs772754008

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

6
(show top 50) (show all 72)
# 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.1842+1G> T single nucleotide variant Pathogenic rs387906240 GRCh38 Chromosome 15, 27955157: 27955157
4 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
5 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh38 Chromosome 15, 27985101: 27985101
6 OCA2 NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918167 GRCh37 Chromosome 15, 28116316: 28116316
7 OCA2 NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918167 GRCh38 Chromosome 15, 27871170: 27871170
8 OCA2 NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs) deletion Pathogenic rs387906241 GRCh37 Chromosome 15, 28171392: 28171392
9 OCA2 NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs) deletion Pathogenic rs387906241 GRCh38 Chromosome 15, 27926246: 27926246
10 OCA2 NM_000275.2(OCA2): c.1001C> T (p.Ala334Val) single nucleotide variant Pathogenic rs121918168 GRCh37 Chromosome 15, 28259965: 28259965
11 OCA2 NM_000275.2(OCA2): c.1001C> T (p.Ala334Val) single nucleotide variant Pathogenic rs121918168 GRCh38 Chromosome 15, 28014819: 28014819
12 OCA2 NG_009846.1: g.103171_225796del deletion Pathogenic GRCh37 Chromosome 15, 28123663: 28246288
13 OCA2 NG_009846.1: g.103171_225796del deletion Pathogenic GRCh38 Chromosome 15, 27878517: 28001142
14 OCA2 NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys) single nucleotide variant Pathogenic rs121918169 GRCh37 Chromosome 15, 28171315: 28171315
15 OCA2 NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys) single nucleotide variant Pathogenic rs121918169 GRCh38 Chromosome 15, 27926169: 27926169
16 OCA2 NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp) single nucleotide variant Pathogenic rs121918170 GRCh37 Chromosome 15, 28228529: 28228529
17 OCA2 NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp) single nucleotide variant Pathogenic rs121918170 GRCh38 Chromosome 15, 27983383: 27983383
18 OCA2 NM_000275.2(OCA2): c.1182G> A (p.Met394Ile) single nucleotide variant Pathogenic rs121918171 GRCh37 Chromosome 15, 28234747: 28234747
19 OCA2 NM_000275.2(OCA2): c.1182G> A (p.Met394Ile) single nucleotide variant Pathogenic rs121918171 GRCh38 Chromosome 15, 27989601: 27989601
20 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic rs104894130 GRCh37 Chromosome 9, 12695626: 12695626
21 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic rs104894130 GRCh38 Chromosome 9, 12695626: 12695626
22 OCA2 NC_000015.10: g.27874792_28058639del deletion Pathogenic GRCh38 Chromosome 15, 27874792: 28058639
23 OCA2 NC_000015.10: g.27874792_28058639del deletion Pathogenic GRCh37 Chromosome 15, 28119938: 28303785
24 OCA2 NM_000275.2(OCA2): c.1183A> C (p.Met395Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs757286784 GRCh37 Chromosome 15, 28231789: 28231789
25 OCA2 NM_000275.2(OCA2): c.1183A> C (p.Met395Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs757286784 GRCh38 Chromosome 15, 27986643: 27986643
26 OCA2 NM_000275.2(OCA2): c.2207C> T (p.Ser736Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs780296175 GRCh37 Chromosome 15, 28116337: 28116337
27 OCA2 NM_000275.2(OCA2): c.2207C> T (p.Ser736Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs780296175 GRCh38 Chromosome 15, 27871191: 27871191
28 OCA2 NM_000275.2(OCA2): c.2425T> A (p.Phe809Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs765779905 GRCh37 Chromosome 15, 28090112: 28090112
29 OCA2 NM_000275.2(OCA2): c.2425T> A (p.Phe809Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs765779905 GRCh38 Chromosome 15, 27844966: 27844966
30 OCA2 NM_000275.2(OCA2): c.867delC (p.Ser289Argfs) deletion Pathogenic rs794727898 GRCh37 Chromosome 15, 28261273: 28261273
31 OCA2 NM_000275.2(OCA2): c.867delC (p.Ser289Argfs) deletion Pathogenic rs794727898 GRCh38 Chromosome 15, 28016127: 28016127
32 OCA2 NM_000275.2(OCA2): c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) indel Pathogenic/Likely pathogenic rs797044784 GRCh37 Chromosome 15, 28261318: 28261321
33 OCA2 NM_000275.2(OCA2): c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) indel Pathogenic/Likely pathogenic rs797044784 GRCh38 Chromosome 15, 28016172: 28016175
34 OCA2 NM_000275.2(OCA2): c.1969G> C (p.Gly657Arg) single nucleotide variant Likely pathogenic rs879253729 GRCh38 Chromosome 15, 27926237: 27926237
35 OCA2 NM_000275.2(OCA2): c.1969G> C (p.Gly657Arg) single nucleotide variant Likely pathogenic rs879253729 GRCh37 Chromosome 15, 28171383: 28171383
36 OCA2 NM_000275.2(OCA2): c.1044+1G> T single nucleotide variant Pathogenic rs185504549 GRCh38 Chromosome 15, 28014775: 28014775
37 OCA2 NM_000275.2(OCA2): c.1044+1G> T single nucleotide variant Pathogenic rs185504549 GRCh37 Chromosome 15, 28259921: 28259921
38 OCA2 NM_000275.2(OCA2): c.647-?_890+?del deletion Pathogenic
39 OCA2 NM_000275.2(OCA2): c.647-?_807+?del deletion Pathogenic
40 OCA2 NM_000275.2(OCA2): c.2344G> A (p.Gly782Arg) single nucleotide variant Likely pathogenic rs797045839 GRCh37 Chromosome 15, 28090193: 28090193
41 OCA2 NM_000275.2(OCA2): c.2344G> A (p.Gly782Arg) single nucleotide variant Likely pathogenic rs797045839 GRCh38 Chromosome 15, 27845047: 27845047
42 OCA2 NM_000275.2(OCA2): c.2012A> T (p.Glu671Val) single nucleotide variant Likely pathogenic rs797045838 GRCh38 Chromosome 15, 27926194: 27926194
43 OCA2 NM_000275.2(OCA2): c.2012A> T (p.Glu671Val) single nucleotide variant Likely pathogenic rs797045838 GRCh37 Chromosome 15, 28171340: 28171340
44 OCA2 NM_000275.2(OCA2): c.1503+5G> A single nucleotide variant Pathogenic rs368124046 GRCh37 Chromosome 15, 28228486: 28228486
45 OCA2 NM_000275.2(OCA2): c.1503+5G> A single nucleotide variant Pathogenic rs368124046 GRCh38 Chromosome 15, 27983340: 27983340
46 OCA2 NM_000275.2(OCA2): c.1427A> G (p.Asn476Ser) single nucleotide variant Pathogenic rs763819379 GRCh38 Chromosome 15, 27983421: 27983421
47 OCA2 NM_000275.2(OCA2): c.1427A> G (p.Asn476Ser) single nucleotide variant Pathogenic rs763819379 GRCh37 Chromosome 15, 28228567: 28228567
48 OCA2 NM_000275.2(OCA2): c.1211C> T (p.Thr404Met) single nucleotide variant Likely pathogenic rs144812594 GRCh37 Chromosome 15, 28231761: 28231761
49 OCA2 NM_000275.2(OCA2): c.1211C> T (p.Thr404Met) single nucleotide variant Likely pathogenic rs144812594 GRCh38 Chromosome 15, 27986615: 27986615
50 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:

# Super pathways Score Top Affiliating Genes
1 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 melanocyte differentiation GO:0030318 9.16 OCA2 TYRP1
2 melanin biosynthetic process GO:0042438 8.96 OCA2 TYRP1
3 pigmentation GO:0043473 8.8 MC1R OCA2 TYRP1

Sources for Albinism, Oculocutaneous, Type Ii

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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50 NCIt
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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