MCID: OCL002
MIFTS: 58

Oculocutaneous Albinism

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

Aliases & Classifications for Oculocutaneous Albinism

MalaCards integrated aliases for Oculocutaneous Albinism:

Name: Oculocutaneous Albinism 12 53 25 37 29 6 15
Albinism, Oculocutaneous 53 25
Oca 53 25
Albinism Oculocutaneous 55

Classifications:



Summaries for Oculocutaneous Albinism

Genetics Home Reference : 25 Oculocutaneous albinism is a group of conditions that affect 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. Oculocutaneous albinism 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; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).

MalaCards based summary : Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to albinism, oculocutaneous, type ii and chediak-higashi syndrome. An important gene associated with Oculocutaneous Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Tyrosine metabolism and Melanogenesis. The drugs Nitisinone and Pirfenidone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are astigmatism and strabismus

NIH Rare Diseases : 53 Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  All types of oculocutaneous albinism are caused by genemutations that are inherited in an autosomal recessive manner.  Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses.

Disease Ontology : 12 An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.

Wikipedia : 76 Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous),... more...

Related Diseases for Oculocutaneous Albinism

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 Oculocutaneous Albinism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ii 34.0 MC1R OCA2 TYRP1
2 chediak-higashi syndrome 33.3 HPS1 TYR TYRP1
3 hermansky-pudlak syndrome 6 31.1 HPS5 HPS6
4 amelanotic melanoma 31.1 TYR TYRP1
5 hermansky-pudlak syndrome 5 30.9 HPS5 HPS6
6 ocular albinism 30.0 OCA2 SLC45A2 TYR TYRP1
7 strabismus 30.0 SLC24A5 TYR TYRP1
8 hermansky-pudlak syndrome 3 29.6 HPS3 HPS5 HPS6 TYR TYRP1
9 hermansky-pudlak syndrome 1 29.3 AP3B1 HPS1 HPS4 OCA2 SLC24A5 SLC45A2
10 albinism 28.1 BLOC1S3 HPS1 HPS4 LRMDA MC1R OCA2
11 storage pool platelet disease 27.4 AP3B1 BLOC1S6 HPS3 HPS4 HPS6
12 pulmonary fibrosis 27.2 HPS1 HPS3 HPS4 HPS5 HPS6
13 hermansky-pudlak syndrome 26.8 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4
14 albinism, oculocutaneous, type ia 12.4
15 albinism, oculocutaneous, type iii 12.3
16 albinism, oculocutaneous, type ib 12.3
17 albinism, oculocutaneous, type iv 12.2
18 minimal pigment oculocutaneous albinism type 1 12.1
19 albinism, oculocutaneous, type v 11.9
20 albinism, oculocutaneous, type vi 11.8
21 albinism, oculocutaneous, type vii 11.8
22 hermansky-pudlak syndrome 2 11.8
23 kotzot-richter syndrome 11.4
24 hermansky-pudlak syndrome 4 11.2
25 hermansky-pudlak syndrome 10 11.2
26 albinism, minimal pigment type 11.1
27 albinism-microcephaly-digital anomalies syndrome 11.1
28 hermansky-pudlak syndrome 7 11.1
29 hermansky-pudlak syndrome 8 11.1
30 hermansky-pudlak syndrome 9 11.1
31 type i 10.5
32 melanoma 10.5
33 acute conjunctivitis 10.5 MC1R OCA2
34 dyschromatosis symmetrica hereditaria 10.4 OCA2 TYR TYRP1
35 congenital nystagmus 10.3 MC1R OCA2 TYR
36 acute contagious conjunctivitis 10.3 MC1R OCA2 TYR
37 melanocytic nevus syndrome, congenital 10.3 MC1R TYR
38 choroiditis 10.3
39 squamous cell carcinoma 10.2
40 angelman syndrome 10.1
41 prader-willi syndrome 10.1
42 schizophrenia 10.1
43 autism 10.1
44 basal cell carcinoma 1 10.1
45 cataract 10.1
46 keratoconus 10.1
47 basal cell carcinoma 10.1
48 hermansky-pudlak syndrome with pulmonary fibrosis 10.0 HPS1 HPS4
49 dowling-degos disease 1 10.0 TYR TYRP1
50 duane retraction syndrome 1 9.9

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



Diseases related to Oculocutaneous Albinism

Symptoms & Phenotypes for Oculocutaneous Albinism

Human phenotypes related to Oculocutaneous Albinism:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 astigmatism 32 frequent (33%) HP:0000483
2 strabismus 32 frequent (33%) HP:0000486
3 visual impairment 32 frequent (33%) HP:0000505
4 myopia 32 frequent (33%) HP:0000545
5 photophobia 32 frequent (33%) HP:0000613
6 nystagmus 32 hallmark (90%) HP:0000639
7 cutaneous photosensitivity 32 hallmark (90%) HP:0000992
8 white eyelashes 32 frequent (33%) HP:0002227
9 basal cell carcinoma 32 occasional (7.5%) HP:0002671
10 melanoma 32 occasional (7.5%) HP:0002861
11 squamous cell carcinoma of the skin 32 occasional (7.5%) HP:0006739
12 generalized hypopigmentation 32 hallmark (90%) HP:0007513
13 iris hypopigmentation 32 hallmark (90%) HP:0007730
14 hypoplasia of the fovea 32 frequent (33%) HP:0007750
15 high hypermetropia 32 frequent (33%) HP:0008499
16 white hair 32 hallmark (90%) HP:0011364

MGI Mouse Phenotypes related to Oculocutaneous Albinism:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 HPS5
2 hearing/vestibular/ear MP:0005377 10.26 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 HPS5
3 craniofacial MP:0005382 10.25 AP3B1 BLOC1S3 HPS1 HPS5 HPS6 MC1R
4 homeostasis/metabolism MP:0005376 10.25 AP3B1 BLOC1S6 HPS1 HPS3 HPS4 HPS5
5 behavior/neurological MP:0005386 10.24 AP3B1 BLOC1S3 BLOC1S6 LRMDA MC1R OCA2
6 hematopoietic system MP:0005397 10.23 MC1R OCA2 TYRP1 AP3B1 BLOC1S3 BLOC1S6
7 integument MP:0010771 10.21 HPS1 HPS3 HPS4 HPS5 HPS6 MC1R
8 cellular MP:0005384 10.18 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 MC1R
9 immune system MP:0005387 10.14 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS5
10 pigmentation MP:0001186 10 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4 HPS5
11 limbs/digits/tail MP:0005371 9.92 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS5 MC1R
12 no phenotypic analysis MP:0003012 9.8 MC1R OCA2 TYR AP3B1 HPS1 HPS3
13 renal/urinary system MP:0005367 9.56 AP3B1 BLOC1S6 HPS5 HPS6 OCA2 TYR
14 vision/eye MP:0005391 9.44 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4

Drugs & Therapeutics for Oculocutaneous Albinism

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
2
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
3
Carbidopa Approved Phase 2 28860-95-9 34359 38101
4
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
5
Levodopa Approved Phase 2 59-92-7 6047
6
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
7
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
8
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
9
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
10
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
11 Analgesics Phase 2,Phase 1
12 Analgesics, Non-Narcotic Phase 2,Phase 1
13 Anti-Inflammatory Agents Phase 2,Phase 1
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
15 Antirheumatic Agents Phase 2,Phase 1
16 Peripheral Nervous System Agents Phase 2,Phase 1
17 Antiparkinson Agents Phase 2
18 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
19 Autonomic Agents Phase 2
20 Carbidopa, levodopa drug combination Phase 2
21 Dopamine Agents Phase 2
22 Neurotransmitter Agents Phase 2
23 Protective Agents Phase 2,Phase 1
24 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
25 Angiotensin Receptor Antagonists Phase 1, Phase 2
26 Angiotensinogen Phase 1, Phase 2
27 Anti-Arrhythmia Agents Phase 1, Phase 2
28 Anti-Bacterial Agents Phase 1, Phase 2
29 Anticholesteremic Agents Phase 1, Phase 2
30 Antidotes Phase 1, Phase 2
31 Antihypertensive Agents Phase 1, Phase 2
32 Anti-Infective Agents Phase 1, Phase 2
33 Antimetabolites Phase 1, Phase 2,Phase 2
34 Antioxidants Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Erythromycin Estolate Phase 1, Phase 2
37 Erythromycin Ethylsuccinate Phase 1, Phase 2
38 Erythromycin stearate Phase 1, Phase 2
39 Expectorants Phase 1, Phase 2
40 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
41 Hormone Antagonists Phase 1, Phase 2
42 Hormones Phase 1, Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
45 Hypolipidemic Agents Phase 1, Phase 2
46 Leukotriene Antagonists Phase 1, Phase 2
47 Lipid Regulating Agents Phase 1, Phase 2
48 Lipoxygenase Inhibitors Phase 1, Phase 2
49 N-monoacetylcystine Phase 1, Phase 2
50 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
2 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
3 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2 Levodopa/carbidopa
4 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
5 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
6 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
7 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
8 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263 Not Applicable
9 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
10 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
11 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
12 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

Genetic tests related to Oculocutaneous Albinism:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism 29

Anatomical Context for Oculocutaneous Albinism

MalaCards organs/tissues related to Oculocutaneous Albinism:

41
Skin, Eye, Retina, Testes, Nk Cells, Bone

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(show top 50) (show all 384)
# Title Authors Year
1
Identification of TYR mutations in patients with oculocutaneous albinism. ( 29658579 )
2018
2
Oculocutaneous albinism with iridofundal coloboma. ( 29374654 )
2018
3
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. ( 29437493 )
2018
4
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
5
Retrospective analysis in oculocutaneous albinism patients for the 2.7A kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. ( 28451379 )
2017
6
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
7
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
8
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. ( 28982372 )
2017
9
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
10
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
11
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
12
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ( 28973042 )
2017
13
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
14
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
15
Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 28546946 )
2017
16
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
17
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
18
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
19
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
20
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
21
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
22
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
23
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
24
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
25
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
26
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
27
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
28
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
29
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
30
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
31
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
32
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
33
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. ( 26691042 )
2015
34
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
35
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. ( 26252096 )
2015
36
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2015
37
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
38
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. ( 25736709 )
2015
39
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
40
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015
41
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
42
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. ( 26347819 )
2015
43
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. ( 26474820 )
2015
44
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis. ( 26033137 )
2015
45
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. ( 25703744 )
2015
46
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. ( 25690523 )
2015
47
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. ( 26167114 )
2015
48
Visual deficits in Nepalese patients with oculocutaneous albinism. ( 25823539 )
2015
49
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. ( 25919014 )
2015
50
Quality of life in patients with oculocutaneous albinism. ( 26375220 )
2015

Variations for Oculocutaneous Albinism

ClinVar genetic disease variations for Oculocutaneous Albinism:

6
(show top 50) (show all 212)
# Gene Variation Type Significance SNP ID Assembly Location
1 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
2 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh38 Chromosome 15, 27985101: 27985101
3 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh37 Chromosome 11, 88911363: 88911363
4 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh38 Chromosome 11, 89178195: 89178195
5 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
6 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
7 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
8 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh38 Chromosome 11, 89284805: 89284805
9 TYR NM_000372.4(TYR): c.1336G> A (p.Gly446Ser) single nucleotide variant Pathogenic rs104894317 GRCh37 Chromosome 11, 89018092: 89018092
10 TYR NM_000372.4(TYR): c.1336G> A (p.Gly446Ser) single nucleotide variant Pathogenic rs104894317 GRCh38 Chromosome 11, 89284924: 89284924
11 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
12 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
13 OCA2 NM_000275.2(OCA2): c.1113C> T (p.Gly371=) single nucleotide variant Benign/Likely benign rs1800405 GRCh37 Chromosome 15, 28235725: 28235725
14 OCA2 NM_000275.2(OCA2): c.1113C> T (p.Gly371=) single nucleotide variant Benign/Likely benign rs1800405 GRCh38 Chromosome 15, 27990579: 27990579
15 OCA2 NM_000275.2(OCA2): c.1183-4A> G single nucleotide variant Benign rs10852218 GRCh37 Chromosome 15, 28231793: 28231793
16 OCA2 NM_000275.2(OCA2): c.1183-4A> G single nucleotide variant Benign rs10852218 GRCh38 Chromosome 15, 27986647: 27986647
17 OCA2 NM_000275.2(OCA2): c.1752C> T (p.His584=) single nucleotide variant Benign/Likely benign rs151225947 GRCh37 Chromosome 15, 28202766: 28202766
18 OCA2 NM_000275.2(OCA2): c.1752C> T (p.His584=) single nucleotide variant Benign/Likely benign rs151225947 GRCh38 Chromosome 15, 27957620: 27957620
19 TYRP1 NM_000550.2(TYRP1): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs61752937 GRCh37 Chromosome 9, 12694274: 12694274
20 TYRP1 NM_000550.2(TYRP1): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs61752937 GRCh38 Chromosome 9, 12694274: 12694274
21 OCA2 NM_000275.2(OCA2): c.2328T> C (p.Ala776=) single nucleotide variant Benign rs1800419 GRCh37 Chromosome 15, 28096538: 28096538
22 OCA2 NM_000275.2(OCA2): c.2328T> C (p.Ala776=) single nucleotide variant Benign rs1800419 GRCh38 Chromosome 15, 27851392: 27851392
23 OCA2 NM_000275.2(OCA2): c.593C> T (p.Pro198Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183487020 GRCh37 Chromosome 15, 28267700: 28267700
24 OCA2 NM_000275.2(OCA2): c.593C> T (p.Pro198Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183487020 GRCh38 Chromosome 15, 28022554: 28022554
25 SLC45A2 NM_016180.4(SLC45A2): c.1157-10C> T single nucleotide variant Uncertain significance rs371152353 GRCh37 Chromosome 5, 33947489: 33947489
26 SLC45A2 NM_016180.4(SLC45A2): c.1157-10C> T single nucleotide variant Uncertain significance rs371152353 GRCh38 Chromosome 5, 33947384: 33947384
27 TYRP1 NM_000550.2(TYRP1): c.259C> A (p.Arg87=) single nucleotide variant Likely benign rs34509359 GRCh37 Chromosome 9, 12694255: 12694255
28 TYRP1 NM_000550.2(TYRP1): c.259C> A (p.Arg87=) single nucleotide variant Likely benign rs34509359 GRCh38 Chromosome 9, 12694255: 12694255
29 TYRP1 NM_000550.2(TYRP1): c.729T> C (p.Ser243=) single nucleotide variant Likely benign rs35866166 GRCh38 Chromosome 9, 12698471: 12698471
30 TYRP1 NM_000550.2(TYRP1): c.729T> C (p.Ser243=) single nucleotide variant Likely benign rs35866166 GRCh37 Chromosome 9, 12698471: 12698471
31 TYRP1 NM_000550.2(TYRP1): c.913+9C> T single nucleotide variant Uncertain significance rs147268542 GRCh37 Chromosome 9, 12698664: 12698664
32 TYRP1 NM_000550.2(TYRP1): c.913+9C> T single nucleotide variant Uncertain significance rs147268542 GRCh38 Chromosome 9, 12698664: 12698664
33 TYRP1 NM_000550.2(TYRP1): c.1082-9T> C single nucleotide variant Uncertain significance rs144041081 GRCh38 Chromosome 9, 12704517: 12704517
34 TYRP1 NM_000550.2(TYRP1): c.1082-9T> C single nucleotide variant Uncertain significance rs144041081 GRCh37 Chromosome 9, 12704517: 12704517
35 OCA2 NM_000275.2(OCA2): c.2364G> A (p.Ser788=) single nucleotide variant Benign rs12592307 GRCh37 Chromosome 15, 28090173: 28090173
36 OCA2 NM_000275.2(OCA2): c.2364G> A (p.Ser788=) single nucleotide variant Benign rs12592307 GRCh38 Chromosome 15, 27845027: 27845027
37 OCA2 NM_000275.2(OCA2): c.2058A> C (p.Ala686=) single nucleotide variant Likely benign rs1800416 GRCh38 Chromosome 15, 27926148: 27926148
38 OCA2 NM_000275.2(OCA2): c.2058A> C (p.Ala686=) single nucleotide variant Likely benign rs1800416 GRCh37 Chromosome 15, 28171294: 28171294
39 OCA2 NM_000275.2(OCA2): c.1844A> G (p.His615Arg) single nucleotide variant Benign rs1800414 GRCh37 Chromosome 15, 28197037: 28197037
40 OCA2 NM_000275.2(OCA2): c.1844A> G (p.His615Arg) single nucleotide variant Benign rs1800414 GRCh38 Chromosome 15, 27951891: 27951891
41 OCA2 NM_000275.2(OCA2): c.1551C> T (p.Cys517=) single nucleotide variant Benign rs1800411 GRCh38 Chromosome 15, 27966775: 27966775
42 OCA2 NM_000275.2(OCA2): c.1551C> T (p.Cys517=) single nucleotide variant Benign rs1800411 GRCh37 Chromosome 15, 28211921: 28211921
43 OCA2 NM_000275.2(OCA2): c.1365-15C> T single nucleotide variant Benign rs12910433 GRCh37 Chromosome 15, 28228644: 28228644
44 OCA2 NM_000275.2(OCA2): c.1365-15C> T single nucleotide variant Benign rs12910433 GRCh38 Chromosome 15, 27983498: 27983498
45 OCA2 NM_000275.2(OCA2): c.1065G> A (p.Ala355=) single nucleotide variant Benign rs1800404 GRCh38 Chromosome 15, 27990627: 27990627
46 OCA2 NM_000275.2(OCA2): c.1065G> A (p.Ala355=) single nucleotide variant Benign rs1800404 GRCh37 Chromosome 15, 28235773: 28235773
47 OCA2 NM_000275.2(OCA2): c.144G> A (p.Ser48=) single nucleotide variant Uncertain significance rs374819923 GRCh38 Chromosome 15, 28081731: 28081731
48 OCA2 NM_000275.2(OCA2): c.144G> A (p.Ser48=) single nucleotide variant Uncertain significance rs374819923 GRCh37 Chromosome 15, 28326877: 28326877
49 OCA2 NM_000275.2(OCA2): c.722C> G (p.Pro241Arg) single nucleotide variant Benign/Likely benign rs2305253 GRCh37 Chromosome 15, 28263628: 28263628
50 OCA2 NM_000275.2(OCA2): c.722C> G (p.Pro241Arg) single nucleotide variant Benign/Likely benign rs2305253 GRCh38 Chromosome 15, 28018482: 28018482

Expression for Oculocutaneous Albinism

Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for Oculocutaneous Albinism

Pathways related to Oculocutaneous Albinism according to KEGG:

37
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Melanogenesis hsa04916

Pathways related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 AP3B1 BLOC1S3 BLOC1S6
2 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Oculocutaneous Albinism

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.71 HPS1 HPS4 HPS6 TYR
2 axon cytoplasm GO:1904115 9.5 AP3B1 BLOC1S3 BLOC1S6
3 melanosome GO:0042470 9.46 HPS4 SLC24A5 TYR TYRP1
4 BLOC-1 complex GO:0031083 9.37 BLOC1S3 BLOC1S6
5 BLOC-3 complex GO:0031085 9.26 HPS1 HPS4
6 BLOC-2 complex GO:0031084 9.13 HPS3 HPS5 HPS6
7 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.77 AP3B1 BLOC1S6 HPS4 HPS5 HPS6
2 visual perception GO:0007601 9.71 HPS1 SLC45A2 TYR
3 melanosome organization GO:0032438 9.62 AP3B1 BLOC1S3 BLOC1S6 TYRP1
4 anterograde axonal transport GO:0008089 9.61 AP3B1 BLOC1S3 BLOC1S6
5 anterograde synaptic vesicle transport GO:0048490 9.58 AP3B1 BLOC1S3 BLOC1S6
6 organelle organization GO:0006996 9.56 HPS3 HPS4 HPS5 HPS6
7 lysosome organization GO:0007040 9.55 HPS1 HPS4
8 melanosome transport GO:0032402 9.52 BLOC1S3 BLOC1S6
9 developmental pigmentation GO:0048066 9.51 OCA2 SLC45A2
10 endosome to melanosome transport GO:0035646 9.49 BLOC1S3 BLOC1S6
11 melanosome assembly GO:1903232 9.48 HPS1 HPS4
12 eye pigment biosynthetic process GO:0006726 9.46 OCA2 TYR
13 melanin biosynthetic process GO:0042438 9.46 OCA2 SLC45A2 TYR TYRP1
14 melanocyte differentiation GO:0030318 9.43 BLOC1S6 HPS4 HPS6 LRMDA OCA2 TYRP1
15 pigmentation GO:0043473 9.28 BLOC1S3 BLOC1S6 HPS3 HPS5 HPS6 MC1R

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

# Name GO ID Score Top Affiliating Genes
1 GTP-dependent protein binding GO:0030742 8.62 AP3B1 HPS6

Sources for Oculocutaneous Albinism

3 CDC
7 CNVD
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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....