MCID: OCL002
MIFTS: 55

Oculocutaneous Albinism

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

Aliases & Classifications for Oculocutaneous Albinism

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 chediak-higashi syndrome and albinism, oculocutaneous, type ia, and has symptoms including visual impairment, nystagmus and strabismus. An important gene associated with Oculocutaneous Albinism is TYR (Tyrosinase), and among its related pathways/superpathways is Melanin biosynthesis. The drugs Carbidopa and Dopamine 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

NIH Rare Diseases : 50 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

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

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 V Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

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

(showing 88, show less)
id Related Disease Score Top Affiliating Genes
1 chediak-higashi syndrome 32.9 TYR TYRP1
2 albinism, oculocutaneous, type ia 12.0
3 albinism, oculocutaneous, type ii 12.0
4 minimal pigment oculocutaneous albinism type 1 12.0
5 albinism, oculocutaneous, type iii 11.9
6 albinism, oculocutaneous, type ib 11.9
7 brown oca 11.8
8 albinism, oculocutaneous, type vi 11.8
9 hermansky-pudlak syndrome 2 11.7
10 albinism, oculocutaneous, type v 11.6
11 hermansky-pudlak syndrome 11.6
12 albinism, oculocutaneous, type iv 11.4
13 ocular albinism 11.3
14 albinism, oculocutaneous, type vii 11.2
15 albinism 11.1
16 hermansky-pudlak syndrome 10 11.1
17 hermansky-pudlak syndrome 4 11.1
18 hermansky-pudlak syndrome 1 11.1
19 hermansky-pudlak syndrome 5 11.1
20 albinism, minimal pigment type 11.0
21 kotzot-richter syndrome 11.0
22 hermansky-pudlak syndrome 7 11.0
23 hermansky-pudlak syndrome 8 11.0
24 hermansky-pudlak syndrome 6 11.0
25 albinism-microcephaly-digital anomalies syndrome 11.0
26 hermansky-pudlak syndrome 3 11.0
27 hermansky-pudlak syndrome 9 11.0
28 prostate cancer, hereditary, 7 10.4 OCA2 TYRP1
29 melanoma 10.4
30 malignant breast melanoma 10.4 TYR TYRP1
31 oral mucosa leukoplakia 10.3 OCA2 TYR
32 epidermolysis bullosa simplex-mcr 10.3 TYR TYRP1
33 small intestine diverticulitis 10.3 OCA2 TYR
34 autoinflammation with arthritis and dyskeratosis 10.2 TYR TYRP1
35 rh deficiency syndrome 10.2 OCA2 SLC45A2 TYR
36 choroiditis 10.2
37 amelanotic melanoma 10.2
38 dyschromatosis symmetrica hereditaria 10.2 OCA2 TYR TYRP1
39 squamous cell carcinoma 10.1
40 basal cell carcinoma 10.0
41 schizophrenia 10.0
42 cataract 10.0
43 prader-willi syndrome 10.0
44 angelman syndrome 10.0
45 keratoconus 10.0
46 pulmonary fibrosis 10.0
47 paraparetic variant of guillain-barré syndrome 10.0 HPS3 HPS6
48 anterior corneal pigmentation 9.9 TYR TYRP1
49 alpha-methylacyl-coa racemase deficiency 9.8
50 actinic keratosis 9.8
51 cryptorchidism 9.8
52 colitis 9.8
53 waardenburg's syndrome 9.8
54 dysplastic nevus syndrome 9.8
55 meningitis 9.8
56 neurofibroma 9.8
57 menkes disease 9.8
58 duane retraction syndrome 9.8
59 refractive error 9.8
60 hemophilia b 9.8
61 keratosis 9.8
62 hemophilia 9.8
63 amelogenesis imperfecta 9.8
64 cheilitis 9.8
65 sickle cell disease 9.8
66 aniridia 9.8
67 bipolar disorder 9.8
68 actinic cheilitis 9.8
69 burns 9.8
70 albinism immunodeficiency 9.8
71 retinitis 9.8
72 hemophagocytic lymphohistiocytosis 9.8
73 bowen's disease 9.8
74 cryptophthalmos 9.8
75 trichomegaly 9.8
76 motor neuron disease 9.8
77 plexiform neurofibroma 9.8
78 neutropenia 9.8
79 strabismus 9.8
80 neuronitis 9.8
81 aneurysm 9.8
82 autism susceptibility 16 9.3 HPS3 HPS6 TYR TYRP1
83 renal oncocytoma 9.1 HPS3 HPS4 HPS6
84 collagenopathy, types ii and xi 8.7 HPS4 LRMDA OCA2 SLC45A2 TYR TYRP1
85 cystic angiomatosis of bone, diffuse 8.6 AP3B1 HPS3 HPS4 HPS6
86 agammaglobulinemia 4 8.4 AP3B1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
87 pseudohermaphroditism 7.6 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 TYR
88 primary cutaneous amyloidosis 6.2 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 LRMDA

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

MGI Mouse Phenotypes related to Oculocutaneous Albinism:

44 (showing 11, show less)
id 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 AP3B1 HPS3 HPS4 HPS6 LRMDA OCA2
5 hearing/vestibular/ear MP:0005377 10.03 TYRP1 AP3B1 BLOC1S3 HPS4 HPS6 OCA2
6 integument MP:0010771 9.96 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 OCA2
7 hematopoietic system MP:0005397 9.88 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 OCA2
8 pigmentation MP:0001186 9.85 TYRP1 AP3B1 BLOC1S3 HPS3 HPS4 HPS6
9 immune system MP:0005387 9.8 AP3B1 BLOC1S3 HPS3 HPS6 OCA2 TYR
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):

(showing 52, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2 28860-95-9 34359 38101
2
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2 59-92-7 6047
4
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
5
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
6
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
7
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
8
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
9
Pirfenidone Investigational Phase 2 53179-13-8 40632
10
Angiotensin II Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
11 Antiparkinson Agents Phase 2
12 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
13 Autonomic Agents Phase 2
14 Carbidopa, levodopa drug combination Phase 2
15 Dopamine Agents Phase 2
16 Neurotransmitter Agents Phase 2
17 Peripheral Nervous System Agents Phase 2,Phase 1
18 Protective Agents Phase 2,Phase 1
19 Analgesics Phase 2,Phase 1
20 Analgesics, Non-Narcotic Phase 2,Phase 1
21 Anti-Inflammatory Agents Phase 2,Phase 1
22 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
23 Antirheumatic 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
51 Respiratory System Agents Phase 1, Phase 2
52
Lutein Nutraceutical 127-40-2 6433159 5368396

Interventional clinical trials:

(showing 12, show less)

id Name Status NCT ID Phase Drugs
1 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2 Levodopa/carbidopa
2 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2 Nitisinone (NTBC)
3 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Active, not recruiting NCT00001596 Phase 2 Pirfenidone;Placebo
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 Basic 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:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism 29

Anatomical Context for Oculocutaneous Albinism

MalaCards organs/tissues related to Oculocutaneous Albinism:

39
Skin, Eye, Retina, Testes, Nk Cells, Bone

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(showing 377, show less)
id Title Authors Year
1
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
2
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
3
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
4
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
5
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
6
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
7
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
8
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
9
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
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
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
13
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
14
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
15
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
16
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
17
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
18
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
19
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
20
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
21
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
22
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
23
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
24
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
25
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
26
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
27
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015
28
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis. ( 26033137 )
2015
29
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. ( 26691042 )
2015
30
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
31
Quality of life in patients with oculocutaneous albinism. ( 26375220 )
2015
32
Oculocutaneous albinism. ( 25763554 )
2015
33
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
34
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. ( 26167114 )
2015
35
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. ( 25690523 )
2015
36
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
37
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. ( 26474820 )
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
Visual deficits in Nepalese patients with oculocutaneous albinism. ( 25823539 )
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
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
43
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. ( 25919014 )
2015
44
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. ( 26347819 )
2015
45
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
46
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. ( 26703494 )
2015
47
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2015
48
Evaluation of choroidal thickness among patients with oculocutaneous albinism. ( 24814965 )
2014
49
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. ( 24361966 )
2014
50
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. ( 25541665 )
2014
51
Oculocutaneous Albinism in Sub-Saharan Africa: Adverse Sun-Associated Health Effects and Photoprotection. ( 25298350 )
2014
52
SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism. ( 23985994 )
2014
53
Case of oculocutaneous albinism complicated with squamous cell carcinoma, Bowen's disease and actinic keratosis. ( 25182297 )
2014
54
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. ( 24721949 )
2014
55
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. ( 24876456 )
2014
56
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. ( 25455140 )
2014
57
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. ( 24096233 )
2014
58
Maple syrup urine disease and oculocutaneous albinism in twins. ( 24741546 )
2014
59
Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism. ( 24659353 )
2014
60
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. ( 24647637 )
2014
61
Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. ( 24934919 )
2014
62
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. ( 24118800 )
2014
63
An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism. ( 25005209 )
2014
64
Mutational analysis of oculocutaneous albinism: a compact review. ( 25093188 )
2014
65
A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping. ( 25296693 )
2014
66
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). ( 25216246 )
2014
67
Squamous cell carcinoma of external auditory canal lacking epidermal growth factor receptor protein overexpression, in an elderly Omani with oculocutaneous albinism treated with palliative radiotherapy. ( 24907210 )
2014
68
Clinical utility gene card for: Oculocutaneous albinism. ( 24518832 )
2014
69
[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type a8!]. ( 25119903 )
2014
70
Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism. ( 24555117 )
2014
71
Macular pigment optical density spatial distribution measured in a subject with oculocutaneous albinism. ( 25323647 )
2014
72
Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations. ( 24461674 )
2014
73
Prevalence and profile of ophthalmic disorders in oculocutaneous albinism: a field report from South-eastern Nigeria. ( 24806601 )
2014
74
Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism. ( 23190901 )
2013
75
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. ( 23504663 )
2013
76
Oral medicine case book 51: actinic cheilitis in a patient with oculocutaneous albinism. ( 23971281 )
2013
77
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. ( 24300644 )
2013
78
Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. ( 23882993 )
2013
79
Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or CalAc--a study of 83 cases. ( 24308209 )
2013
80
Dermoscopy of melanocytic lesions in patients affected by oculocutaneous albinism: a case series. ( 23816758 )
2013
81
Oculocutaneous Albinism: Identifying and Overcoming Barriers to Vision Care in a Nigerian Population. ( 24198136 )
2013
82
Microperimetric biofeedback in a patient with oculocutaneous albinism. ( 24093197 )
2013
83
Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism. ( 23901257 )
2013
84
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. ( 23050561 )
2013
85
Newborn With Oculocutaneous Albinism. ( 24145105 )
2013
86
An interesting case of bilateral bifid insertion of superior rectus muscle as an intra-operative finding in a patient with oculocutaneous albinism. ( 23975092 )
2013
87
Genetic analyses of Chinese patients with digenic oculocutaneous albinism. ( 23324268 )
2013
88
Implantation of phakic intraocular lens in 3 patients with oculocutaneous albinism. ( 24075162 )
2013
89
MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family. ( 23312576 )
2013
90
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. ( 23364476 )
2013
91
Pigmented choroidal nevus in a child with oculocutaneous albinism. ( 23352722 )
2013
92
Oculocutaneous albinism. ( 23772437 )
2013
93
Oculocutaneous albinism and skin cancer risk. ( 22757611 )
2013
94
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. ( 23970088 )
2013
95
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. ( 22987308 )
2012
96
Refractive profile in oculocutaneous albinism and its correlation with final visual outcome. ( 22133989 )
2012
97
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report. ( 22548044 )
2012
98
[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family]. ( 22490798 )
2012
99
Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. ( 21985232 )
2012
100
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. ( 23242301 )
2012
101
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. ( 22294196 )
2012
102
Molecular analysis of Korean patients with oculocutaneous albinism. ( 22042571 )
2012
103
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. ( 22734612 )
2012
104
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. ( 20861851 )
2011
105
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. ( 21996312 )
2011
106
[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]. ( 21287499 )
2011
107
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. ( 21968110 )
2011
108
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. ( 21458243 )
2011
109
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. ( 21968107 )
2011
110
Granulomatous colitis in oculocutaneous albinism. ( 19833565 )
2011
111
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. ( 21739261 )
2011
112
A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation. ( 21614985 )
2011
113
[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients]. ( 22097729 )
2011
114
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. ( 21677667 )
2011
115
Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism. ( 22031648 )
2011
116
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China. ( 22088535 )
2011
117
Oculocutaneous albinism associated with multiple malformations and psychomotor retardation. ( 20537085 )
2010
118
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. ( 20426782 )
2010
119
Visual acuity and nystagmus following strabismus surgery in patients with oculocutaneous albinism. ( 21261179 )
2010
120
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. ( 19865097 )
2010
121
Two cases of burns in children from French Guinea with oculocutaneous albinism. ( 21991215 )
2010
122
Oculocutaneous Albinism associated with Axenfeld's Anomaly: Three case reports. ( 21509091 )
2010
123
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. ( 20447099 )
2010
124
Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family. ( 23112997 )
2010
125
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. ( 20019752 )
2010
126
A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. ( 19397757 )
2009
127
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. ( 19610114 )
2009
128
Multiple inflamed nevi in a child with oculocutaneous albinism: what lessons can be learned? ( 19250424 )
2009
129
Oculocutaneous albinism in Suncus murinus: establishment of a strain and identification of its responsible gene. ( 19151509 )
2009
130
Dermatoscopy of pigmented melanocytic nevi in patients with oculocutaneous albinism. ( 19231645 )
2009
131
Malignant amelanotic melanoma developing from an intradermal naevus in a patient with oculocutaneous albinism. ( 19486065 )
2009
132
Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. ( 19626598 )
2009
133
[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism]. ( 18683130 )
2008
134
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. ( 19006216 )
2008
135
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. ( 18821858 )
2008
136
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. ( 18407468 )
2008
137
A Chinese case of oculocutaneous albinism type 4 with two novel mutations. ( 18986462 )
2008
138
Multifocal visual evoked potentials reveal normal optic nerve projections in human carriers of oculocutaneous albinism type 1a. ( 18296661 )
2008
139
Oculocutaneous albinism type 1A: a case report. ( 19094851 )
2008
140
Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect? ( 18202852 )
2008
141
Lack of adequate sun protection for children with oculocutaneous albinism in South Africa. ( 18590551 )
2008
142
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2). ( 18036783 )
2008
143
Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report. ( 18294379 )
2008
144
Bilateral keratoconus with oculocutaneous albinism. ( 18797083 )
2008
145
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. ( 18463683 )
2008
146
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. ( 18245373 )
2008
147
Oculocutaneous albinism accompanied by minor morphologic stigmata. ( 18551315 )
2008
148
GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism. ( 17353214 )
2007
149
Oculocutaneous albinism in a rural community of South Africa: a population genetic study. ( 17620156 )
2007
150
Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. ( 17385796 )
2007
151
SLC45A2 variations in Indian oculocutaneous albinism patients. ( 17768386 )
2007
152
What's your diagnosis? Sporadic oculocutaneous albinism associated with Chen's iridal rings (secondary to equatorial lenticular shadows). ( 17694824 )
2007
153
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
154
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter. ( 17931990 )
2007
155
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. ( 17355913 )
2007
156
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. ( 17516931 )
2007
157
Pulmonary aneurysms and intracardiac thrombi due to BehAset's disease in an African-American adolescent with oculocutaneous albinism. ( 17047893 )
2007
158
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. ( 17960121 )
2007
159
Oculocutaneous albinism. ( 17980020 )
2007
160
Foveal thickness and macular volume in patients with oculocutaneous albinism. ( 18046229 )
2007
161
A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism. ( 16517127 )
2006
162
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. ( 17090889 )
2006
163
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
164
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. ( 16965274 )
2006
165
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. ( 16704458 )
2006
166
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. ( 16417222 )
2006
167
[Prenatal gene diagnosis of oculocutaneous albinism type I]. ( 16767664 )
2006
168
Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. ( 16570240 )
2006
169
[A new form of Oculocutaneous albinism, OCA4]. ( 16963427 )
2006
170
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. ( 17041891 )
2006
171
Topographical retinal function in oculocutaneous albinism. ( 16765699 )
2006
172
Comparative mapping of oculocutaneous albinism type II (OCA2), transient receptor potential cation channel, subfamily M member 1 (TRPM1) and two equine microsatellites, ASB08 and 1CA43, among four equid species by fluorescence in situ hybridization. ( 16717457 )
2006
173
Two novel mutations detected in Japanese patients with oculocutaneous albinism. ( 17008060 )
2006
174
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? ( 16868655 )
2006
175
P gene mutations associated with oculocutaneous albinism type II (OCA2). ( 15712365 )
2005
176
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. ( 15565285 )
2005
177
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. ( 15937636 )
2005
178
Choroidal amelanotic melanoma in a patient with oculocutaneous albinism. ( 16391642 )
2005
179
A Case of oculocutaneous albinism in a Maltese. ( 16294003 )
2005
180
[Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]. ( 16555521 )
2005
181
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. ( 15656822 )
2005
182
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. ( 16225631 )
2005
183
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. ( 15942220 )
2005
184
Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene. ( 16170149 )
2005
185
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. ( 15996218 )
2005
186
Reversion mutation of ib oculocutaneous albinism to wild-type pigmentation in medaka fish. ( 16162178 )
2005
187
Oculocutaneous albinism in southern Africa: population structure, health and genetic care. ( 16096213 )
2005
188
Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). ( 16098056 )
2005
189
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. ( 14722913 )
2004
190
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. ( 15381243 )
2004
191
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. ( 14961451 )
2004
192
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. ( 15635296 )
2004
193
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. ( 15173252 )
2004
194
Coinheritance of two rare genodermatoses (Papillon-LefA"vre syndrome and oculocutaneous albinism type 1) in two families: a genetic study. ( 15606524 )
2004
195
A case of familial trichomegaly in association with oculocutaneous albinism type 1. ( 14752500 )
2004
196
Oculocutaneous albinism and spurious pulse oximetry. ( 14742411 )
2004
197
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). ( 12876664 )
2003
198
Amelanotic melanoma in a child with oculocutaneous albinism. ( 12825234 )
2003
199
Oculocutaneous albinism type 1: the last 100 years. ( 12753405 )
2003
200
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. ( 12713581 )
2003
201
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. ( 12749060 )
2003
202
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). ( 12727022 )
2003
203
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. ( 12829739 )
2003
204
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. ( 13680365 )
2003
205
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. ( 12469324 )
2003
206
Oculocutaneous albinism. ( 12702061 )
2003
207
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). ( 11858948 )
2002
208
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. ( 12128226 )
2002
209
Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. ( 11860983 )
2002
210
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. ( 12028586 )
2002
211
Diagnostic and therapeutic challenges. A 50-year-old woman with oculocutaneous albinism (OCA) and Type II diabetes mellitus (DM) reported bilateral progressive visual loss, especially during the last month. ( 11508884 )
2001
212
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. ( 11179026 )
2001
213
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. ( 11284711 )
2001
214
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. ( 11384158 )
2001
215
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. ( 11295837 )
2001
216
Tyrp1 and oculocutaneous albinism type 3. ( 11775055 )
2001
217
Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele. ( 11260608 )
2001
218
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. ( 11134238 )
2001
219
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. ( 11310796 )
2001
220
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. ( 11574907 )
2001
221
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins. ( 11641241 )
2001
222
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. ( 10649493 )
2000
223
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-saharan africa; robyn kerr, gwynneth stevens, prashiela manga, sarah salm, premila john, tabitha haw, and michele ramsay; (Article was originally published in human mutation 15:166-172, 2000) ( 10874310 )
2000
224
Electron microscopic DOPA reaction test for oculocutaneous albinism. ( 10929771 )
2000
225
Malignant melanoma in a patient with oculocutaneous albinism. ( 11003720 )
2000
226
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. ( 11041207 )
2000
227
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. ( 10905897 )
2000
228
Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome? ( 11045591 )
2000
229
Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. ( 11041370 )
2000
230
Small-bowel stricture in a woman with oculocutaneous albinism (Hermansky-Pudlak syndrome). ( 10749270 )
2000
231
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. ( 10571953 )
1999
232
Oculocutaneous albinism. ( 10332009 )
1999
233
Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience. ( 10441617 )
1999
234
A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. ( 10559577 )
1999
235
Bilateral abortive cryptophthalmos associated with oculocutaneous albinism. ( 10321549 )
1999
236
Oculocutaneous albinism in the i6 mutant of the medaka fish is associated with a deletion in the tyrosinase gene. ( 10454293 )
1999
237
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) [correction of (Hennansky-Pudlak)]. ( 10037574 )
1999
238
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). ( 10671067 )
1998
239
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. ( 9568405 )
1998
240
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). ( 9562579 )
1998
241
Metastatic melanoma of the nasal cavity in a patient with oculocutaneous albinism. ( 9890545 )
1998
242
Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients. ( 9879192 )
1998
243
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). ( 10671066 )
1998
244
Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. ( 9321758 )
1997
245
Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. ( 9059668 )
1997
246
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. ( 9163730 )
1997
247
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). ( 9259202 )
1997
248
Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism. ( 9170165 )
1997
249
DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1). ( 9560949 )
1997
250
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). ( 9259203 )
1997
251
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. ( 9345097 )
1997
252
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. ( 9341887 )
1997
253
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. ( 9099845 )
1997
254
Histology of fetal eyes with oculocutaneous albinism. ( 8619776 )
1996
255
Oculocutaneous albinism. ( 8804841 )
1996
256
Might the refractive state in oculocutaneous albino patients be a clue for distinguishing between tyrosinase-positive and tyrosinase-negative forms of oculocutaneous albinism? ( 9479530 )
1996
257
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. ( 8953413 )
1996
258
Distribution of oculocutaneous albinism in Zimbabwe. ( 8863154 )
1996
259
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". ( 8651291 )
1996
260
Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism. ( 8996965 )
1996
261
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. ( 8618053 )
1996
262
Diagnosis of oculocutaneous albinism with molecular analysis. ( 8644824 )
1996
263
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). ( 7762554 )
1995
264
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. ( 7887411 )
1995
265
Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. ( 7636828 )
1995
266
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A). ( 7617575 )
1995
267
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. ( 8592327 )
1995
268
Epidermal melanocytes in normal and tyrosinase-negative oculocutaneous albinism fetuses. ( 7487137 )
1995
269
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). ( 7886000 )
1994
270
Molecular basis of oculocutaneous albinism. ( 7963676 )
1994
271
Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. ( 8025067 )
1994
272
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). ( 7874125 )
1994
273
Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. ( 7991586 )
1994
274
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. ( 7920637 )
1994
275
Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. ( 8027570 )
1994
276
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. ( 8198130 )
1994
277
Ophthalmic features of minimal pigment oculocutaneous albinism. ( 8190479 )
1994
278
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. ( 8302318 )
1994
279
Molecular genetics of oculocutaneous albinism. ( 7849740 )
1994
280
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. ( 8128955 )
1994
281
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin. ( 7937580 )
1994
282
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? ( 8042664 )
1994
283
Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism. ( 8051921 )
1994
284
Amelanotic metastatic melanoma in a patient with oculocutaneous albinism. ( 8491890 )
1993
285
Molecular genetics of oculocutaneous albinism. ( 8217557 )
1993
286
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. ( 8477259 )
1993
287
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. ( 8421497 )
1993
288
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). ( 7902671 )
1993
289
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. ( 8434585 )
1993
290
Oculocutaneous Albinism Type 4 ( 20301683 )
1993
291
A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. ( 8364542 )
1993
292
Oculocutaneous Albinism Type 1 ( 20301345 )
1993
293
Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism. ( 8428754 )
1993
294
Pathogenesis of the platinum (cp) mutation, a model for oculocutaneous albinism. ( 7688401 )
1993
295
Oculocutaneous Albinism Type 2 ( 20301410 )
1993
296
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. ( 1355848 )
1992
297
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. ( 1642278 )
1992
298
Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism. ( 1498098 )
1992
299
Foveal hypoplasia in complete oculocutaneous albinism. A histopathologic study. ( 1410836 )
1992
300
Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene. ( 1409445 )
1992
301
Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism. ( 1409426 )
1992
302
Malignant melanoma in a child with oculocutaneous albinism. ( 1405654 )
1992
303
Mutations of the tyrosinase gene in oculocutaneous albinism. ( 1292010 )
1992
304
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. ( 1487241 )
1992
305
Posterior chamber intraocular lens implantation in a patient with oculocutaneous albinism. ( 1403762 )
1992
306
Oculocutaneous albinism: variable expressivity of nystagmus in a sibship. ( 1432506 )
1992
307
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. ( 1415228 )
1992
308
The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism. ( 1409411 )
1992
309
Malignant melanoma occurring in a case of oculocutaneous albinism. ( 1634204 )
1992
310
Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism. ( 1292009 )
1992
311
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. ( 1900307 )
1991
312
Eumelanin and pheomelanin contents in hair and 5-S-cysteinyldopa and 5-hydroxy-6-methoxyindole-2-carboxylic acid levels in urine in Japanese oculocutaneous albinism. ( 2059060 )
1991
313
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. ( 1832718 )
1991
314
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. ( 1711223 )
1991
315
Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. ( 1903591 )
1991
316
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. ( 1943686 )
1991
317
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. ( 1905879 )
1991
318
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. ( 1899321 )
1991
319
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. ( 1900309 )
1991
320
Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism. ( 1676041 )
1991
321
Duane syndrome associated with oculocutaneous albinism. ( 2019956 )
1991
322
Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. ( 2120217 )
1990
323
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. ( 1970634 )
1990
324
In quest of the tyrosinase-positive oculocutaneous albinism gene. ( 1982896 )
1990
325
A hereditary syndrome association of oculocutaneous albinism, dysmorphic features and short stature. ( 2280979 )
1990
326
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. ( 2342539 )
1990
327
Oculocutaneous albinism in Cameroon. A 15-year follow-up study. ( 2096353 )
1990
328
Electroretinographic findings in human oculocutaneous albinism. ( 2516301 )
1989
329
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. ( 2511845 )
1989
330
Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype. ( 2732995 )
1989
331
Malignant melanoma in oculocutaneous albinism. ( 2684028 )
1989
332
Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism. ( 2517365 )
1989
333
Oculocutaneous albinism and schizophrenia-like psychosis. ( 2915216 )
1989
334
Mechanisms of hypopigmentation in human oculocutaneous albinism. ( 3285349 )
1988
335
Developmental glaucoma in oculocutaneous albinism. ( 3405588 )
1988
336
The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man. ( 3130302 )
1988
337
Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. ( 3148727 )
1988
338
Oculocutaneous albinism associated with congenital glaucoma. ( 3405593 )
1988
339
Segregation analysis of brown oculocutaneous albinism. ( 3742854 )
1986
340
Minimal pigment: a new type of oculocutaneous albinism. ( 3081286 )
1986
341
Oculocutaneous albinism and schizophrenia. ( 3730462 )
1986
342
Zinc and copper metabolism in oculocutaneous albinism in the Caucasian. ( 3133536 )
1986
343
Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism. ( 2408424 )
1985
344
Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. ( 3918447 )
1985
345
Histopathologic evaluation of melanocytic nervi in oculocutaneous albinism. ( 2484848 )
1985
346
Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization. ( 3935994 )
1985
347
Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence. ( 6499256 )
1984
348
Dysplastic nevus syndrome with multiple primary amelanotic melanomas in oculocutaneous albinism. ( 6490997 )
1984
349
Visual acuity development in tyrosinase negative oculocutaneous albinism. ( 6425027 )
1984
350
Oculocutaneous albinism, platelet storage pool disease, and progressive lupus nephritis. ( 6340629 )
1983
351
Copper metabolism study in oculocutaneous albinism. ( 6656620 )
1983
352
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. ( 6616879 )
1983
353
Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. ( 6827132 )
1983
354
Malignant melanoma with oculocutaneous albinism. ( 7142477 )
1982
355
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). ( 7065089 )
1982
356
Lentigo maligna in a woman with oculocutaneous albinism. ( 7247429 )
1981
357
Oculocutaneous albinism with Axenfeld's anomaly. ( 6789680 )
1981
358
Can oculocutaneous albinism be diagnosed prenatally? ( 7346821 )
1981
359
Allelism in human oculocutaneous albinism. ( 6787918 )
1981
360
Oculocutaneous albinism and corneal mesodermal dysgenesis. ( 7294125 )
1981
361
Oculocutaneous albinism associated with corneal mesodermal dysgenesis. ( 7211991 )
1981
362
Familial diffuse interstitial pulmonary fibrosis associated with oculocutaneous albinism. Report of two cases with a family study. ( 493902 )
1979
363
Partial oculocutaneous albinism in Mystromys albicaudatus: nonhomology with the Chediak-Higashi syndrome. ( 439847 )
1979
364
Oculocutaneous albinism and mental disorder. A report of two autistic boys. ( 413782 )
1978
365
Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation. ( 115122 )
1978
366
Oculocutaneous albinism associated with motor neuron disease. ( 632111 )
1978
367
Trysinase positive oculocutaneous albinism in the goldfish, Carassius auratus l., and ultrastructural and biochemical study of the eye. ( 411572 )
1977
368
Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. ( 15451 )
1977
369
Oculocutaneous albinism associated with Apert's syndrome. ( 596398 )
1977
370
Oculocutaneous albinism and multiple pigmented naevi. ( 414774 )
1977
371
Hairbulb tyrosinase activity in oculocutaneous albinism. ( 822352 )
1976
372
Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. ( 940919 )
1976
373
Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. ( 4351103 )
1973
374
Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. ( 4624656 )
1972
375
Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. ( 5173133 )
1971
376
Investigation of a case of oculocutaneous albinism. ( 5006146 )
1971
377
Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. ( 4983623 )
1970

Variations for Oculocutaneous Albinism

ClinVar genetic disease variations for Oculocutaneous Albinism:

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

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 GeneCards Suite gene sharing:

(showing 1, show less)
id 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:

(showing 5, show less)
id 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:

(showing 10, show less)
id 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:

(showing 2, show less)
id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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