MCID: OCL002
MIFTS: 57

Oculocutaneous Albinism

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

Aliases & Classifications for Oculocutaneous Albinism

MalaCards integrated aliases for Oculocutaneous Albinism:

Name: Oculocutaneous Albinism 12 49 24 36 28 14
Albinism, Oculocutaneous 49 24
Oca 49 24
Albinism Oculocutaneous 51

Classifications:



Summaries for Oculocutaneous Albinism

Genetics Home Reference : 24 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, and has symptoms including astigmatism, strabismus and visual impairment. 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 growth/size/body region and behavior/neurological

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

NIH Rare Diseases : 49 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. Last updated: 10/17/2012

Wikipedia : 72 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 96)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ii 33.9 OCA2 TYRP1
2 chediak-higashi syndrome 33.1 TYR TYRP1
3 amelanotic melanoma 30.8 TYR TYRP1
4 hermansky-pudlak syndrome 3 30.6 HPS3 HPS6 TYR TYRP1
5 albinism 30.6 HPS4 LRMDA OCA2 SLC45A2 TYR TYRP1
6 hermansky-pudlak syndrome 1 30.3 AP3B1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
7 ocular albinism 30.1 OCA2 SLC45A2 TYR
8 hermansky-pudlak syndrome 30.0 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 TYR
9 vitiligo-associated multiple autoimmune disease susceptibility 1 29.7 TYR TYRP1
10 pulmonary fibrosis 29.1 HPS3 HPS4 HPS6
11 storage pool platelet disease 28.3 AP3B1 HPS3 HPS4 HPS6
12 albinism, oculocutaneous, type ia 12.3
13 albinism, oculocutaneous, type iii 12.3
14 albinism, oculocutaneous, type ib 12.2
15 minimal pigment oculocutaneous albinism type 1 12.1
16 albinism, oculocutaneous, type vi 12.0
17 albinism, oculocutaneous, type v 11.9
18 albinism, oculocutaneous, type iv 11.8
19 hermansky-pudlak syndrome 2 11.8
20 kotzot-richter syndrome 11.4
21 albinism, oculocutaneous, type vii 11.2
22 hermansky-pudlak syndrome 4 11.2
23 hermansky-pudlak syndrome 5 11.2
24 hermansky-pudlak syndrome 10 11.2
25 albinism, minimal pigment type 11.1
26 albinism-microcephaly-digital anomalies syndrome 11.1
27 hermansky-pudlak syndrome 6 11.1
28 hermansky-pudlak syndrome 7 11.1
29 hermansky-pudlak syndrome 8 11.1
30 hermansky-pudlak syndrome 9 11.1
31 melanoma 10.5
32 tyrosinase-like 10.3 TYR TYRP1
33 blood group, i system 10.3
34 choroiditis 10.3
35 congenital nystagmus 10.2 OCA2 TYR
36 dowling-degos disease 1 10.2 TYR TYRP1
37 squamous cell carcinoma 10.2
38 acute contagious conjunctivitis 10.2 OCA2 TYR
39 dyschromatosis symmetrica hereditaria 10.1 OCA2 TYR TYRP1
40 angelman syndrome 10.1
41 fibrosis of extraocular muscles, congenital, 1 10.1
42 prader-willi syndrome 10.1
43 schizophrenia 10.1
44 autism 10.1
45 basal cell carcinoma 1 10.1
46 cataract 10.1
47 keratoconus 10.1
48 basal cell carcinoma 10.1
49 vogt-koyanagi-harada disease 10.0 TYR TYRP1
50 aniridia 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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 astigmatism 31 frequent (33%) HP:0000483
2 strabismus 31 frequent (33%) HP:0000486
3 visual impairment 31 frequent (33%) HP:0000505
4 myopia 31 frequent (33%) HP:0000545
5 photophobia 31 frequent (33%) HP:0000613
6 nystagmus 31 hallmark (90%) HP:0000639
7 cutaneous photosensitivity 31 hallmark (90%) HP:0000992
8 white eyelashes 31 frequent (33%) HP:0002227
9 basal cell carcinoma 31 occasional (7.5%) HP:0002671
10 melanoma 31 occasional (7.5%) HP:0002861
11 squamous cell carcinoma of the skin 31 occasional (7.5%) HP:0006739
12 generalized hypopigmentation 31 hallmark (90%) HP:0007513
13 iris hypopigmentation 31 hallmark (90%) HP:0007730
14 hypoplasia of the fovea 31 frequent (33%) HP:0007750
15 high hypermetropia 31 frequent (33%) HP:0008499
16 white hair 31 hallmark (90%) HP:0011364

MGI Mouse Phenotypes related to Oculocutaneous Albinism:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 AP3B1 BLOC1S3 HPS4 HPS6 OCA2 SLC24A5
2 behavior/neurological MP:0005386 10.1 AP3B1 BLOC1S3 LRMDA OCA2 SLC24A5 SLC45A2
3 craniofacial MP:0005382 10.08 AP3B1 BLOC1S3 HPS4 HPS6 OCA2 SLC24A5
4 homeostasis/metabolism MP:0005376 10.07 TYRP1 AP3B1 HPS3 HPS4 HPS6 LRMDA
5 hearing/vestibular/ear MP:0005377 10.03 AP3B1 BLOC1S3 HPS4 HPS6 OCA2 SLC24A5
6 hematopoietic system MP:0005397 10.01 OCA2 TYRP1 AP3B1 BLOC1S3 HPS3 HPS4
7 integument MP:0010771 9.96 SLC24A5 SLC45A2 TYR TYRP1 AP3B1 BLOC1S3
8 immune system MP:0005387 9.87 AP3B1 BLOC1S3 HPS3 HPS6 LRMDA OCA2
9 pigmentation MP:0001186 9.85 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 OCA2
10 renal/urinary system MP:0005367 9.35 AP3B1 HPS4 HPS6 OCA2 TYR
11 vision/eye MP:0005391 9.32 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 OCA2

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 38101 34359
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
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
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
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 28

Anatomical Context for Oculocutaneous Albinism

MalaCards organs/tissues related to Oculocutaneous Albinism:

38
Skin, Eye, Retina, Testes, Nk Cells, Bone

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(show top 50) (show all 381)
# Title Authors Year
1
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. ( 29437493 )
2018
2
Oculocutaneous albinism with iridofundal coloboma. ( 29374654 )
2018
3
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
4
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
5
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
6
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
7
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
8
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ( 28973042 )
2017
9
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
10
Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 28546946 )
2017
11
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
12
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
13
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
14
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
15
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
16
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
17
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. ( 28982372 )
2017
18
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
19
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
20
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
21
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
22
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
23
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
24
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
25
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
26
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
27
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
28
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
29
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
30
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
31
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
32
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. ( 25736709 )
2015
33
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
34
Oculocutaneous albinism. ( 25763554 )
2015
35
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. ( 26347819 )
2015
36
Visual deficits in Nepalese patients with oculocutaneous albinism. ( 25823539 )
2015
37
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. ( 25919014 )
2015
38
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. ( 26703494 )
2015
39
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. ( 26167114 )
2015
40
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
41
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
42
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. ( 25690523 )
2015
43
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. ( 26252096 )
2015
44
Quality of life in patients with oculocutaneous albinism. ( 26375220 )
2015
45
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
46
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. ( 26474820 )
2015
47
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
48
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
49
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2015
50
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015

Variations for Oculocutaneous Albinism

ClinVar genetic disease variations for Oculocutaneous Albinism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
2 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
3 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
4 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973

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:

36
# 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 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 lysosomal membrane GO:0005765 9.5 AP3B1 HPS6 OCA2
2 axon cytoplasm GO:1904115 9.26 AP3B1 BLOC1S3
3 melanosome GO:0042470 9.26 HPS4 SLC24A5 TYR TYRP1
4 BLOC-2 complex GO:0031084 9.16 HPS3 HPS6
5 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.65 AP3B1 HPS4 HPS6
2 melanosome organization GO:0032438 9.5 AP3B1 BLOC1S3 TYRP1
3 anterograde axonal transport GO:0008089 9.46 AP3B1 BLOC1S3
4 melanin biosynthetic process GO:0042438 9.46 OCA2 SLC45A2 TYR TYRP1
5 anterograde synaptic vesicle transport GO:0048490 9.43 AP3B1 BLOC1S3
6 organelle organization GO:0006996 9.43 HPS3 HPS4 HPS6
7 developmental pigmentation GO:0048066 9.4 OCA2 SLC45A2
8 eye pigment biosynthetic process GO:0006726 9.37 OCA2 TYR
9 melanocyte differentiation GO:0030318 9.35 HPS4 HPS6 LRMDA OCA2 TYRP1
10 pigmentation GO:0043473 9.1 BLOC1S3 HPS3 HPS6 OCA2 TYR TYRP1

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.96 TYR TYRP1
2 GTP-dependent protein binding GO:0030742 8.62 AP3B1 HPS6

Sources for Oculocutaneous Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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