OCA
MCID: OCL002
MIFTS: 58

Oculocutaneous Albinism (OCA)

Categories: Blood diseases, Cancer diseases, Eye diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin 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 44
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 iii and albinism, oculocutaneous, type ia. An important gene associated with Oculocutaneous Albinism is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways are Tyrosine metabolism and Melanogenesis. The drugs Abraxane and Afinitor have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and visual impairment

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

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.

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 93)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type iii 33.7 LRMDA OCA2 SLC45A2 TYR TYRP1
2 albinism, oculocutaneous, type ia 33.6 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
3 albinism, oculocutaneous, type ib 33.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
4 chediak-higashi syndrome 33.3 HPS1 TYR TYRP1
5 albinism, oculocutaneous, type iv 33.1 AP3B1 LRMDA OCA2 SLC24A5 SLC45A2 TYR
6 albinism, oculocutaneous, type ii 32.9 HPS5 HPS6 MC1R OCA2 SLC24A5 SLC45A2
7 albinism, oculocutaneous, type v 32.9 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
8 albinism, oculocutaneous, type vii 32.8 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
9 hermansky-pudlak syndrome 6 32.2 HPS5 HPS6
10 hermansky-pudlak syndrome 5 31.9 HPS5 HPS6
11 hermansky-pudlak syndrome 9 31.8 BLOC1S6 CD63
12 hermansky-pudlak syndrome 1 31.4 AP3B1 HPS1 HPS4 OCA2 SLC24A5 SLC45A2
13 hermansky-pudlak syndrome 3 31.3 HPS3 HPS5 HPS6 TYR TYRP1
14 albinism 31.0 BLOC1S3 HPS1 HPS4 LRMDA MC1R OCA2
15 hermansky-pudlak syndrome 30.9 AP3B1 BLOC1S3 BLOC1S6 CD63 HPS1 HPS3
16 amelanotic melanoma 30.8 TYR TYRP1
17 ocular albinism 30.2 OCA2 SLC45A2 TYR TYRP1
18 strabismus 30.2 SLC24A5 TYR TYRP1
19 pulmonary fibrosis 29.6 HPS1 HPS3 HPS4 HPS5 HPS6
20 storage pool platelet disease 29.3 AP3B1 BLOC1S3 BLOC1S6 HPS3 HPS4 HPS6
21 minimal pigment oculocutaneous albinism type 1 12.2
22 albinism, oculocutaneous, type vi 12.2
23 hermansky-pudlak syndrome 2 12.0
24 kotzot-richter syndrome 11.6
25 hermansky-pudlak syndrome 4 11.4
26 hermansky-pudlak syndrome 10 11.4
27 albinism, minimal pigment type 11.2
28 albinism-microcephaly-digital anomalies syndrome 11.2
29 hermansky-pudlak syndrome 7 11.2
30 hermansky-pudlak syndrome 8 11.2
31 melanoma 10.6
32 squamous cell carcinoma 10.4
33 angelman syndrome 10.2
34 prader-willi syndrome 10.2
35 schizophrenia 10.2
36 autism 10.2
37 cataract 10.2
38 keratoconus 10.2
39 keratosis 10.2
40 actinic keratosis 10.2
41 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2 TYR TYRP1
42 acute conjunctivitis 10.2 MC1R OCA2
43 melanocytic nevus syndrome, congenital 10.1 MC1R TYR
44 congenital nystagmus 10.1 MC1R OCA2 TYR
45 acute contagious conjunctivitis 10.1 MC1R OCA2 TYR
46 dowling-degos disease 1 10.1 TYR TYRP1
47 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 MC1R TYR TYRP1
48 waardenburg syndrome, type 2a 10.1 TYR TYRP1
49 hermansky-pudlak syndrome with pulmonary fibrosis 10.1 HPS1 HPS4
50 duane retraction syndrome 1 10.1

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

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 behavior/neurological MP:0005386 10.28 AP3B1 BLOC1S3 BLOC1S6 CD63 LRMDA MC1R
3 homeostasis/metabolism MP:0005376 10.28 AP3B1 BLOC1S6 CD63 HPS1 HPS3 HPS4
4 hearing/vestibular/ear MP:0005377 10.26 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 HPS5
5 craniofacial MP:0005382 10.25 AP3B1 BLOC1S3 HPS1 HPS4 HPS5 HPS6
6 hematopoietic system MP:0005397 10.23 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4
7 integument MP:0010771 10.21 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4
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 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4
11 limbs/digits/tail MP:0005371 9.92 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS5 MC1R
12 no phenotypic analysis MP:0003012 9.8 AP3B1 HPS1 HPS3 HPS5 MC1R OCA2
13 renal/urinary system MP:0005367 9.61 AP3B1 BLOC1S6 CD63 HPS1 HPS4 HPS5
14 vision/eye MP:0005391 9.44 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4

Drugs & Therapeutics for Oculocutaneous Albinism

FDA approved drugs:

(show top 50) (show all 66)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abraxane 18 49 PACLITAXEL Celgene October 2012
2
Afinitor 18 49 EVEROLIMUS Novartis March 2009
3
Akynzeo 18 49 NETUPITANT AND PALONOSETRON (hydrochloride) Helsinn October 2014
4
Alimta 18 49 PEMETREXED (also Pemetrexed Disodium) Eli Lilly February 2004
5
Aloxi 18 49 PALONOSETRON (hydrochloride) MGI Pharma, Helsinn Healthcare August 2003
6
Arimidex 18 49 ANASTROZOLE AstraZeneca January 1996
7
Aromasin Tablets 18 49 EXEMESTANE Pharmacia & Upjohn October 21. 1999
8
Arranon 18 49 NELARABINE GlaxoSmithKline October 2005
9
Avastin 18 49 BEVACIZUMAB Genentech July 2009
10
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
11
Cyramza 18 49 RAMUCIRUMAB Eli Lilly April 2014
12
Erbitux 18 49 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
13
Erivedge 18 49 VISMODEGIB Genentech January 2012
14
Eulexin 18 FLUTAMIDE Schering-Plough June 1996
15
Faslodex 18 49 FULVESTRANT AstraZeneca April 2002
16
Femara 18 49 LETROZOLE Novartis January 2001
17
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
18
Gemzar 18 49 GEMCITABINE HYDROCHLORIDE Eli Lilly May 1996
19
Gilotrif 18 49 AFATINIB DIMALEATE Boehringer Ingelheim July 2013
20
Gleevec 18 49 IMATINIB MESYLATE Novartis May 2001
21
Gliadel Wafer 18 49 CARMUSTINE Rhone-Poulenc Rorer, Guilford Pharmaceuticals February 1997
22
Halaven 18 49 ERIBULIN MESYLATE Eisai November 2010
23
Herceptin 18 49 TRASTUZUMAB Genentech October 1998
24
Iressa 18 49 GEFITINIB AstraZeneca May 2003
25
Ixempra 18 49 IXABEPILONE Bristol-Myers Squibb October 2007
26
Kadcyla 18 49 ADO-TRASTUZUMAB EMTANSINE Genentech February 2013
27
Kytril 18 GRANISETRON HYDROCHLORIDE Roche/SmithKline Beecham June 2001/ November 1997
28
Lenvima 18 49 LENVATINIB MESYLATE Eisai February 2015
29
Nexavar 18 49 SORAFENIB TOSYLATE Bayer/Onyx December 2005
30
Odomzo 18 49 SONIDEGIB PHOSPHATE Novartis Jul-15
31
Perjeta 18 49 PERTUZUMAB Genentech June 2012
32
Picato gel 18 INGENOL MEBUTATE LEO Pharma January 2012
33
Plenaxis 18 ABARELIX Praecis Pharmaceuticals December 2003
34
Sancuso 18 GRANISETRON ProStrakan September 2008
35
Stivarga 18 49 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012
36
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
37
Sylatron 18 49 PEGINTERFERON ALFA-2B Merck April 2011
38
Tarceva 18 49 ERLOTINIB HYDROCHLORIDE Genentech, OSI Pharmaceuticals November, 2004
39
Taxotere 18 49 DOCETAXEL Rhone Poulenc Rorer May 1996
40
Temodar 18 49 TEMOZOLOMIDE Schering-Plough August 1999
41
Trisenox 18 49 ARSENIC TRIOXIDE Cell Therapeutics September 2000
42
Tykerb 18 49 LAPATINIB DITOSYLATE GlaxoSmithKline March 2007
43
Unituxin 18 49 DINUTUXIMAB United Therapeutics March 2015
44
UroXatral 18 ALFUZOSIN HYDROCHLORIDE Sanofi-aventis June 2003
45
Vandetanib 18 49 vandetanib AstraZeneca April 2011
46
Viadur 18 49 LEUPROLIDE ACETATE Alza March 2000
47
Visipaque (270 &320) 18 IODIXANOL Nycomed April 1996
48
Votrient 18 49 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline April 2012/ October of 2009
49
Xalkori 18 49 CRIZOTINIB Pfizer August of 2011
50
Xtandi 18 49 ENZALUTAMIDE Medivation August 2012

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

(show top 50) (show all 55)
# 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
Levodopa Approved Phase 2 59-92-7 6047
5
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
6
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
7
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
8
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
9
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
10
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
11 Anti-Inflammatory Agents Phase 2,Phase 1
12 Analgesics Phase 2,Phase 1
13 Antirheumatic Agents Phase 2,Phase 1
14 Analgesics, Non-Narcotic Phase 2,Phase 1
15 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
16 Peripheral Nervous System Agents Phase 2,Phase 1
17 Sympathomimetics Phase 2
18 Neurotransmitter Agents Phase 2
19 Dopamine Agents Phase 2
20 Antiparkinson Agents Phase 2
21 Autonomic Agents Phase 2
22 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
23 Carbidopa, levodopa drug combination Phase 2
24 Cardiotonic Agents Phase 2
25 Protective Agents Phase 2,Phase 1
26 Lipid Regulating Agents Phase 1, Phase 2
27 Hormone Antagonists Phase 1, Phase 2
28 Lipoxygenase Inhibitors Phase 1, Phase 2
29 Leukotriene Antagonists Phase 1, Phase 2
30 Expectorants Phase 1, Phase 2
31 Anti-Bacterial Agents Phase 1, Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
33 Antihypertensive Agents Phase 1, Phase 2
34 Antioxidants Phase 1, Phase 2
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
36 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
37 Angiotensinogen Phase 1, Phase 2
38 N-monoacetylcystine Phase 1, Phase 2
39 Antiviral Agents Phase 1, Phase 2
40 Free Radical Scavengers Phase 1, Phase 2
41 Antidotes Phase 1, Phase 2
42 Pharmaceutical Solutions Phase 1, Phase 2
43 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
44 Anti-Infective Agents Phase 1, Phase 2
45 Hypolipidemic Agents Phase 1, Phase 2
46 Hormones Phase 1, Phase 2
47 Respiratory System Agents Phase 1, Phase 2
48 Erythromycin Estolate Phase 1, Phase 2
49 Angiotensin Receptor Antagonists Phase 1, Phase 2
50 Anti-Arrhythmia Agents 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 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Completed NCT02200263 Not Applicable
7 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
8 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
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

Cochrane evidence based reviews: albinism, oculocutaneous

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, Prostate

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(show top 50) (show all 391)
# 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
Daylight Photodynamic Therapy in the Treatment of Actinic Keratosis in Carriers of Oculocutaneous Albinism: Report of Three Cases. ( 30458957 )
2018
5
In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for Oculocutaneous Albinism type 6 (OCA 6) disorder. ( 30204049 )
2018
6
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3. ( 30347088 )
2018
7
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. ( 30369044 )
2018
8
The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A. ( 30447237 )
2018
9
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. ( 30472657 )
2018
10
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
11
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
12
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
13
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
14
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. ( 28982372 )
2017
15
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
16
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
17
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
18
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ( 28973042 )
2017
19
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
20
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
21
Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 28546946 )
2017
22
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
23
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
24
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
25
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
26
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
27
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
28
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
29
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
30
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
31
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
32
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
33
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
34
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
35
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
36
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
37
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
38
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
39
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. ( 26691042 )
2015
40
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
41
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. ( 26252096 )
2015
42
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2015
43
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. ( 25736709 )
2015
44
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
45
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015
46
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
47
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. ( 26347819 )
2015
48
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. ( 26474820 )
2015
49
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis. ( 26033137 )
2015
50
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

Variations for Oculocutaneous Albinism

ClinVar genetic disease variations for Oculocutaneous Albinism:

6 (show top 50) (show all 224)
# 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 OCA2 NM_000275.2(OCA2): c.913C> T (p.Arg305Trp) single nucleotide variant Benign/Likely benign, Affects rs1800401 GRCh37 Chromosome 15, 28260053: 28260053
4 OCA2 NM_000275.2(OCA2): c.913C> T (p.Arg305Trp) single nucleotide variant Benign/Likely benign, Affects rs1800401 GRCh38 Chromosome 15, 28014907: 28014907
5 OCA2 NM_000275.2(OCA2): c.1256G> A (p.Arg419Gln) single nucleotide variant Benign/Likely benign, Affects rs1800407 GRCh37 Chromosome 15, 28230318: 28230318
6 OCA2 NM_000275.2(OCA2): c.1256G> A (p.Arg419Gln) single nucleotide variant Benign/Likely benign, Affects rs1800407 GRCh38 Chromosome 15, 27985172: 27985172
7 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh37 Chromosome 11, 88911363: 88911363
8 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh38 Chromosome 11, 89178195: 89178195
9 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
10 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
11 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
12 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh38 Chromosome 11, 89284805: 89284805
13 TYR NM_000372.4(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Benign/Likely benign, association rs1042602 GRCh37 Chromosome 11, 88911696: 88911696
14 TYR NM_000372.4(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Benign/Likely benign, association rs1042602 GRCh38 Chromosome 11, 89178528: 89178528
15 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh37 Chromosome 11, 89017961: 89017961
16 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh38 Chromosome 11, 89284793: 89284793
17 TYR NM_000372.4(TYR): c.1336G> A (p.Gly446Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894317 GRCh37 Chromosome 11, 89018092: 89018092
18 TYR NM_000372.4(TYR): c.1336G> A (p.Gly446Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894317 GRCh38 Chromosome 11, 89284924: 89284924
19 SLC45A2 NM_016180.4(SLC45A2): c.814G> A (p.Glu272Lys) single nucleotide variant Likely benign rs26722 GRCh37 Chromosome 5, 33963870: 33963870
20 SLC45A2 NM_016180.4(SLC45A2): c.814G> A (p.Glu272Lys) single nucleotide variant Likely benign rs26722 GRCh38 Chromosome 5, 33963765: 33963765
21 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
22 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
23 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.829G> A (p.Glu277Lys) single nucleotide variant Benign rs2278008 GRCh37 Chromosome 5, 33989518: 33989518
24 AMACR; C1QTNF3-AMACR; SLC45A2 NM_014324.5(AMACR): c.829G> A (p.Glu277Lys) single nucleotide variant Benign rs2278008 GRCh38 Chromosome 5, 33989413: 33989413
25 OCA2 NM_000275.2(OCA2): c.1113C> T (p.Gly371=) single nucleotide variant Benign/Likely benign rs1800405 GRCh37 Chromosome 15, 28235725: 28235725
26 OCA2 NM_000275.2(OCA2): c.1113C> T (p.Gly371=) single nucleotide variant Benign/Likely benign rs1800405 GRCh38 Chromosome 15, 27990579: 27990579
27 OCA2 NM_000275.2(OCA2): c.1183-4A> G single nucleotide variant Benign rs10852218 GRCh37 Chromosome 15, 28231793: 28231793
28 OCA2 NM_000275.2(OCA2): c.1183-4A> G single nucleotide variant Benign rs10852218 GRCh38 Chromosome 15, 27986647: 27986647
29 OCA2 NM_000275.2(OCA2): c.1752C> T (p.His584=) single nucleotide variant Benign/Likely benign rs151225947 GRCh37 Chromosome 15, 28202766: 28202766
30 OCA2 NM_000275.2(OCA2): c.1752C> T (p.His584=) single nucleotide variant Benign/Likely benign rs151225947 GRCh38 Chromosome 15, 27957620: 27957620
31 TYRP1 NM_000550.2(TYRP1): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs61752937 GRCh37 Chromosome 9, 12694274: 12694274
32 TYRP1 NM_000550.2(TYRP1): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs61752937 GRCh38 Chromosome 9, 12694274: 12694274
33 OCA2 NM_000275.2(OCA2): c.2328T> C (p.Ala776=) single nucleotide variant Benign rs1800419 GRCh37 Chromosome 15, 28096538: 28096538
34 OCA2 NM_000275.2(OCA2): c.2328T> C (p.Ala776=) single nucleotide variant Benign rs1800419 GRCh38 Chromosome 15, 27851392: 27851392
35 OCA2 NM_000275.2(OCA2): c.593C> T (p.Pro198Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183487020 GRCh37 Chromosome 15, 28267700: 28267700
36 OCA2 NM_000275.2(OCA2): c.593C> T (p.Pro198Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183487020 GRCh38 Chromosome 15, 28022554: 28022554
37 SLC45A2 NM_016180.4(SLC45A2): c.1157-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371152353 GRCh37 Chromosome 5, 33947489: 33947489
38 SLC45A2 NM_016180.4(SLC45A2): c.1157-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371152353 GRCh38 Chromosome 5, 33947384: 33947384
39 TYRP1 NM_000550.2(TYRP1): c.259C> A (p.Arg87=) single nucleotide variant Benign/Likely benign rs34509359 GRCh37 Chromosome 9, 12694255: 12694255
40 TYRP1 NM_000550.2(TYRP1): c.259C> A (p.Arg87=) single nucleotide variant Benign/Likely benign rs34509359 GRCh38 Chromosome 9, 12694255: 12694255
41 TYRP1 NM_000550.2(TYRP1): c.729T> C (p.Ser243=) single nucleotide variant Benign/Likely benign rs35866166 GRCh38 Chromosome 9, 12698471: 12698471
42 TYRP1 NM_000550.2(TYRP1): c.729T> C (p.Ser243=) single nucleotide variant Benign/Likely benign rs35866166 GRCh37 Chromosome 9, 12698471: 12698471
43 TYRP1 NM_000550.2(TYRP1): c.913+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs147268542 GRCh37 Chromosome 9, 12698664: 12698664
44 TYRP1 NM_000550.2(TYRP1): c.913+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs147268542 GRCh38 Chromosome 9, 12698664: 12698664
45 TYRP1 NM_000550.2(TYRP1): c.1082-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs144041081 GRCh38 Chromosome 9, 12704517: 12704517
46 TYRP1 NM_000550.2(TYRP1): c.1082-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs144041081 GRCh37 Chromosome 9, 12704517: 12704517
47 OCA2 NM_000275.2(OCA2): c.2364G> A (p.Ser788=) single nucleotide variant Benign rs12592307 GRCh37 Chromosome 15, 28090173: 28090173
48 OCA2 NM_000275.2(OCA2): c.2364G> A (p.Ser788=) single nucleotide variant Benign rs12592307 GRCh38 Chromosome 15, 27845027: 27845027
49 OCA2 NM_000275.2(OCA2): c.2058A> C (p.Ala686=) single nucleotide variant Benign/Likely benign rs1800416 GRCh38 Chromosome 15, 27926148: 27926148
50 OCA2 NM_000275.2(OCA2): c.2058A> C (p.Ala686=) single nucleotide variant Benign/Likely benign rs1800416 GRCh37 Chromosome 15, 28171294: 28171294

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 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 9.72 CD63 HPS1 HPS4 HPS6 TYR
2 lysosomal membrane GO:0005765 9.71 AP3B1 CD63 HPS6 OCA2
3 melanosome GO:0042470 9.55 CD63 HPS4 SLC24A5 TYR TYRP1
4 axon cytoplasm GO:1904115 9.54 AP3B1 BLOC1S3 BLOC1S6
5 BLOC-1 complex GO:0031083 9.43 BLOC1S3 BLOC1S6
6 BLOC-3 complex GO:0031085 9.26 HPS1 HPS4
7 BLOC-2 complex GO:0031084 9.13 HPS3 HPS5 HPS6
8 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.85 AP3B1 BLOC1S3 BLOC1S6 HPS4 HPS5 HPS6
2 visual perception GO:0007601 9.73 HPS1 SLC45A2 TYR
3 anterograde axonal transport GO:0008089 9.65 AP3B1 BLOC1S3 BLOC1S6
4 anterograde synaptic vesicle transport GO:0048490 9.63 AP3B1 BLOC1S3 BLOC1S6
5 melanosome organization GO:0032438 9.62 AP3B1 BLOC1S3 BLOC1S6 TYRP1
6 developmental pigmentation GO:0048066 9.61 BLOC1S3 OCA2 SLC45A2
7 endosome to melanosome transport GO:0035646 9.58 BLOC1S3 BLOC1S6 CD63
8 lysosome organization GO:0007040 9.57 HPS1 HPS4
9 organelle organization GO:0006996 9.56 HPS3 HPS4 HPS5 HPS6
10 melanosome transport GO:0032402 9.55 BLOC1S3 BLOC1S6
11 melanin biosynthetic process GO:0042438 9.55 MC1R OCA2 SLC45A2 TYR TYRP1
12 positive regulation of natural killer cell activation GO:0032816 9.54 BLOC1S3 BLOC1S6
13 melanosome assembly GO:1903232 9.52 HPS1 HPS4
14 secretion of lysosomal enzymes GO:0033299 9.51 BLOC1S3 BLOC1S6
15 eye pigment biosynthetic process GO:0006726 9.49 OCA2 TYR
16 melanocyte differentiation GO:0030318 9.43 BLOC1S6 HPS4 HPS6 LRMDA OCA2 TYRP1
17 pigmentation GO:0043473 9.32 BLOC1S3 BLOC1S6 CD63 HPS3 HPS5 HPS6

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
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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
73 UMLS
74 UMLS via Orphanet
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