MCID: OCL002
MIFTS: 57

Oculocutaneous Albinism

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

Aliases & Classifications for Oculocutaneous Albinism

MalaCards integrated aliases for Oculocutaneous Albinism:

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

Classifications:



Summaries for Oculocutaneous Albinism

Genetics Home Reference : 24 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).

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

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

NIH Rare Diseases : 49 Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  All types of oculocutaneous albinism are caused by genemutations that are inherited in an autosomal recessive manner.  Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses. Last updated: 10/17/2012

Wikipedia : 72 Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous),... more...

Related Diseases for Oculocutaneous Albinism

Diseases in the Oculocutaneous Albinism family:

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

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

(showing 96, show less)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ii 33.9 OCA2 TYRP1
2 chediak-higashi syndrome 33.1 TYR TYRP1
3 amelanotic melanoma 30.8 TYR TYRP1
4 hermansky-pudlak syndrome 3 30.6 HPS3 HPS6 TYR TYRP1
5 albinism 30.6 HPS4 LRMDA OCA2 SLC45A2 TYR TYRP1
6 hermansky-pudlak syndrome 1 30.3 AP3B1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
7 ocular albinism 30.1 OCA2 SLC45A2 TYR
8 hermansky-pudlak syndrome 30.0 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 TYR
9 vitiligo-associated multiple autoimmune disease susceptibility 1 29.7 TYR TYRP1
10 pulmonary fibrosis 29.1 HPS3 HPS4 HPS6
11 storage pool platelet disease 28.3 AP3B1 HPS3 HPS4 HPS6
12 albinism, oculocutaneous, type ia 12.3
13 albinism, oculocutaneous, type iii 12.3
14 albinism, oculocutaneous, type ib 12.2
15 minimal pigment oculocutaneous albinism type 1 12.1
16 albinism, oculocutaneous, type vi 12.0
17 albinism, oculocutaneous, type v 11.9
18 albinism, oculocutaneous, type iv 11.8
19 hermansky-pudlak syndrome 2 11.8
20 kotzot-richter syndrome 11.4
21 albinism, oculocutaneous, type vii 11.2
22 hermansky-pudlak syndrome 4 11.2
23 hermansky-pudlak syndrome 5 11.2
24 hermansky-pudlak syndrome 10 11.2
25 albinism, minimal pigment type 11.1
26 albinism-microcephaly-digital anomalies syndrome 11.1
27 hermansky-pudlak syndrome 6 11.1
28 hermansky-pudlak syndrome 7 11.1
29 hermansky-pudlak syndrome 8 11.1
30 hermansky-pudlak syndrome 9 11.1
31 melanoma 10.5
32 tyrosinase-like 10.3 TYR TYRP1
33 blood group, i system 10.3
34 choroiditis 10.3
35 congenital nystagmus 10.2 OCA2 TYR
36 dowling-degos disease 1 10.2 TYR TYRP1
37 squamous cell carcinoma 10.2
38 acute contagious conjunctivitis 10.2 OCA2 TYR
39 dyschromatosis symmetrica hereditaria 10.1 OCA2 TYR TYRP1
40 angelman syndrome 10.1
41 fibrosis of extraocular muscles, congenital, 1 10.1
42 prader-willi syndrome 10.1
43 schizophrenia 10.1
44 autism 10.1
45 basal cell carcinoma 1 10.1
46 cataract 10.1
47 keratoconus 10.1
48 basal cell carcinoma 10.1
49 vogt-koyanagi-harada disease 10.0 TYR TYRP1
50 aniridia 1 9.9
51 coloboma of macula 9.9
52 dilution, pigmentary 9.9
53 duane retraction syndrome 1 9.9
54 strabismus 9.9
55 trichomegaly 9.9
56 cryptorchidism, unilateral or bilateral 9.9
57 maple syrup urine disease 9.9
58 hemophilia b 9.9
59 menkes disease 9.9
60 ayme-gripp syndrome 9.9
61 branchiootic syndrome 1 9.9
62 complement component 6 deficiency 9.9
63 alpha-methylacyl-coa racemase deficiency 9.9
64 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9
65 amelogenesis imperfecta 9.9
66 bipolar disorder 9.9
67 burns 9.9
68 diabetes mellitus 9.9
69 hemophagocytic lymphohistiocytosis 9.9
70 motor neuron disease 9.9
71 neutropenia 9.9
72 colitis 9.9
73 dysplastic nevus syndrome 9.9
74 pigmentation disease 9.9
75 duane retraction syndrome 9.9
76 disease of mental health 9.9
77 keratosis 9.9
78 cheilitis 9.9
79 retinitis 9.9
80 plexiform neurofibroma 9.9
81 neuronitis 9.9
82 actinic keratosis 9.9
83 waardenburg's syndrome 9.9
84 meningitis 9.9
85 neurofibroma 9.9
86 refractive error 9.9
87 hemophilia 9.9
88 sickle cell disease 9.9
89 actinic cheilitis 9.9
90 albinism immunodeficiency 9.9
91 basal cell carcinoma, multiple 9.9
92 bowen's disease 9.9
93 cryptophthalmos 9.9
94 isolated duane retraction syndrome 9.9
95 aneurysm 9.9
96 hermansky-pudlak syndrome without pulmonary fibrosis 9.8 HPS3 HPS6

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



Diseases related to Oculocutaneous Albinism

Symptoms & Phenotypes for Oculocutaneous Albinism

Human phenotypes related to Oculocutaneous Albinism:

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

MGI Mouse Phenotypes related to Oculocutaneous Albinism:

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

Drugs & Therapeutics for Oculocutaneous Albinism

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

(showing 52, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
2
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
3
Carbidopa Approved Phase 2 28860-95-9 38101 34359
4
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
5
Levodopa Approved Phase 2 59-92-7 6047
6
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
7
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
8
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
9
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
10
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
11 Analgesics Phase 2,Phase 1
12 Analgesics, Non-Narcotic Phase 2,Phase 1
13 Anti-Inflammatory Agents Phase 2,Phase 1
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
15 Antirheumatic Agents Phase 2,Phase 1
16 Peripheral Nervous System Agents Phase 2,Phase 1
17 Antiparkinson Agents Phase 2
18 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
19 Autonomic Agents Phase 2
20 Carbidopa, levodopa drug combination Phase 2
21 Dopamine Agents Phase 2
22 Neurotransmitter Agents Phase 2
23 Protective Agents Phase 2,Phase 1
24 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
25 Angiotensin Receptor Antagonists Phase 1, Phase 2
26 Angiotensinogen Phase 1, Phase 2
27 Anti-Arrhythmia Agents Phase 1, Phase 2
28 Anti-Bacterial Agents Phase 1, Phase 2
29 Anticholesteremic Agents Phase 1, Phase 2
30 Antidotes Phase 1, Phase 2
31 Antihypertensive Agents Phase 1, Phase 2
32 Anti-Infective Agents Phase 1, Phase 2
33 Antimetabolites Phase 1, Phase 2
34 Antioxidants Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Erythromycin Estolate Phase 1, Phase 2
37 Erythromycin Ethylsuccinate Phase 1, Phase 2
38 Erythromycin stearate Phase 1, Phase 2
39 Expectorants Phase 1, Phase 2
40 Gastrointestinal Agents Phase 1, Phase 2
41 Hormone Antagonists Phase 1, Phase 2
42 Hormones Phase 1, Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
45 Hypolipidemic Agents Phase 1, Phase 2
46 Leukotriene Antagonists Phase 1, Phase 2
47 Lipid Regulating Agents Phase 1, Phase 2
48 Lipoxygenase Inhibitors Phase 1, Phase 2
49 N-monoacetylcystine Phase 1, Phase 2
50 Pharmaceutical Solutions Phase 1, Phase 2
51 Respiratory System Agents Phase 1, Phase 2
52
Lutein Approved, Investigational, Nutraceutical 127-40-2 6433159

Interventional clinical trials:

(showing 12, show less)

# Name Status NCT ID Phase Drugs
1 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
2 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
3 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2 Levodopa/carbidopa
4 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
5 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
6 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
7 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
8 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263
9 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
10 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
11 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
12 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

Genetic tests related to Oculocutaneous Albinism:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism 28

Anatomical Context for Oculocutaneous Albinism

MalaCards organs/tissues related to Oculocutaneous Albinism:

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

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(showing 381, show less)
# Title Authors Year
1
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. ( 29437493 )
2018
2
Oculocutaneous albinism with iridofundal coloboma. ( 29374654 )
2018
3
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
4
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
5
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
6
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
7
Retrospective analysis in oculocutaneous albinism patients for the 2.7A kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. ( 28451379 )
2017
8
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ( 28973042 )
2017
9
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
10
Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 28546946 )
2017
11
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
12
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
13
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
14
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
15
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
16
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
17
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. ( 28982372 )
2017
18
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
19
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
20
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
21
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
22
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
23
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
24
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
25
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
26
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
27
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
28
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
29
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
30
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
31
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
32
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. ( 25736709 )
2015
33
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
34
Oculocutaneous albinism. ( 25763554 )
2015
35
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. ( 26347819 )
2015
36
Visual deficits in Nepalese patients with oculocutaneous albinism. ( 25823539 )
2015
37
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. ( 25919014 )
2015
38
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. ( 26703494 )
2015
39
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. ( 26167114 )
2015
40
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. ( 25703744 )
2015
41
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
42
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. ( 25690523 )
2015
43
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. ( 26252096 )
2015
44
Quality of life in patients with oculocutaneous albinism. ( 26375220 )
2015
45
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
46
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. ( 26474820 )
2015
47
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
48
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
49
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2015
50
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015
51
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. ( 26691042 )
2015
52
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis. ( 26033137 )
2015
53
Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism. ( 24659353 )
2014
54
Clinical utility gene card for: Oculocutaneous albinism. ( 24518832 )
2014
55
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. ( 24647637 )
2014
56
Prevalence and profile of ophthalmic disorders in oculocutaneous albinism: a field report from South-eastern Nigeria. ( 24806601 )
2014
57
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
58
Macular pigment optical density spatial distribution measured in a subject with oculocutaneous albinism. ( 25323647 )
2014
59
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. ( 25541665 )
2014
60
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. ( 24721949 )
2014
61
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. ( 24361966 )
2014
62
[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type a8!]. ( 25119903 )
2014
63
Case of oculocutaneous albinism complicated with squamous cell carcinoma, Bowen's disease and actinic keratosis. ( 25182297 )
2014
64
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
65
Maple syrup urine disease and oculocutaneous albinism in twins. ( 24741546 )
2014
66
Mutational analysis of oculocutaneous albinism: a compact review. ( 25093188 )
2014
67
Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism. ( 24555117 )
2014
68
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. ( 24876456 )
2014
69
Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. ( 24934919 )
2014
70
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. ( 25455140 )
2014
71
Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations. ( 24461674 )
2014
72
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. ( 24096233 )
2014
73
Oculocutaneous Albinism in Sub-Saharan Africa: Adverse Sun-Associated Health Effects and Photoprotection. ( 25298350 )
2014
74
Evaluation of choroidal thickness among patients with oculocutaneous albinism. ( 24814965 )
2014
75
An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism. ( 25005209 )
2014
76
SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism. ( 23985994 )
2014
77
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). ( 25216246 )
2014
78
A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping. ( 25296693 )
2014
79
Pigmented choroidal nevus in a child with oculocutaneous albinism. ( 23352722 )
2013
80
Oculocutaneous albinism and skin cancer risk. ( 22757611 )
2013
81
Genetic analyses of Chinese patients with digenic oculocutaneous albinism. ( 23324268 )
2013
82
Oral medicine case book 51: actinic cheilitis in a patient with oculocutaneous albinism. ( 23971281 )
2013
83
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. ( 23050561 )
2013
84
Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism. ( 23901257 )
2013
85
Oculocutaneous Albinism: Identifying and Overcoming Barriers to Vision Care in a Nigerian Population. ( 24198136 )
2013
86
Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or CalAc--a study of 83 cases. ( 24308209 )
2013
87
Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. ( 23882993 )
2013
88
Microperimetric biofeedback in a patient with oculocutaneous albinism. ( 24093197 )
2013
89
Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism. ( 23190901 )
2013
90
MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family. ( 23312576 )
2013
91
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. ( 23504663 )
2013
92
Dermoscopy of melanocytic lesions in patients affected by oculocutaneous albinism: a case series. ( 23816758 )
2013
93
Implantation of phakic intraocular lens in 3 patients with oculocutaneous albinism. ( 24075162 )
2013
94
Oculocutaneous albinism. ( 23772437 )
2013
95
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. ( 24300644 )
2013
96
An interesting case of bilateral bifid insertion of superior rectus muscle as an intra-operative finding in a patient with oculocutaneous albinism. ( 23975092 )
2013
97
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. ( 23970088 )
2013
98
Newborn With Oculocutaneous Albinism. ( 24145105 )
2013
99
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. ( 23364476 )
2013
100
Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. ( 21985232 )
2012
101
Molecular analysis of Korean patients with oculocutaneous albinism. ( 22042571 )
2012
102
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. ( 23242301 )
2012
103
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report. ( 22548044 )
2012
104
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. ( 22294196 )
2012
105
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. ( 22987308 )
2012
106
[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family]. ( 22490798 )
2012
107
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. ( 22734612 )
2012
108
Refractive profile in oculocutaneous albinism and its correlation with final visual outcome. ( 22133989 )
2012
109
[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]. ( 21287499 )
2011
110
Granulomatous colitis in oculocutaneous albinism. ( 19833565 )
2011
111
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. ( 21968107 )
2011
112
[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients]. ( 22097729 )
2011
113
Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism. ( 22031648 )
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
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. ( 20861851 )
2011
116
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. ( 21739261 )
2011
117
A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation. ( 21614985 )
2011
118
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. ( 21458243 )
2011
119
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. ( 21968110 )
2011
120
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China. ( 22088535 )
2011
121
Oculocutaneous albinism associated with multiple malformations and psychomotor retardation. ( 20537085 )
2010
122
Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family. ( 23112997 )
2010
123
Oculocutaneous Albinism associated with Axenfeld's Anomaly: Three case reports. ( 21509091 )
2010
124
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. ( 19865097 )
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
Two cases of burns in children from French Guinea with oculocutaneous albinism. ( 21991215 )
2010
127
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. ( 20426782 )
2010
128
Visual acuity and nystagmus following strabismus surgery in patients with oculocutaneous albinism. ( 21261179 )
2010
129
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. ( 20447099 )
2010
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
A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. ( 19397757 )
2009
133
Oculocutaneous albinism in Suncus murinus: establishment of a strain and identification of its responsible gene. ( 19151509 )
2009
134
Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. ( 19626598 )
2009
135
Multiple inflamed nevi in a child with oculocutaneous albinism: what lessons can be learned? ( 19250424 )
2009
136
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. ( 19610114 )
2009
137
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. ( 18821858 )
2008
138
[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism]. ( 18683130 )
2008
139
A Chinese case of oculocutaneous albinism type 4 with two novel mutations. ( 18986462 )
2008
140
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. ( 18407468 )
2008
141
Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report. ( 18294379 )
2008
142
Multifocal visual evoked potentials reveal normal optic nerve projections in human carriers of oculocutaneous albinism type 1a. ( 18296661 )
2008
143
Oculocutaneous albinism type 1A: a case report. ( 19094851 )
2008
144
Lack of adequate sun protection for children with oculocutaneous albinism in South Africa. ( 18590551 )
2008
145
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. ( 19006216 )
2008
146
Oculocutaneous albinism accompanied by minor morphologic stigmata. ( 18551315 )
2008
147
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. ( 18245373 )
2008
148
Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect? ( 18202852 )
2008
149
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. ( 18463683 )
2008
150
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2). ( 18036783 )
2008
151
Bilateral keratoconus with oculocutaneous albinism. ( 18797083 )
2008
152
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
153
Foveal thickness and macular volume in patients with oculocutaneous albinism. ( 18046229 )
2007
154
Oculocutaneous albinism. ( 17980020 )
2007
155
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. ( 17516931 )
2007
156
Pulmonary aneurysms and intracardiac thrombi due to BehAset's disease in an African-American adolescent with oculocutaneous albinism. ( 17047893 )
2007
157
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
158
What's your diagnosis? Sporadic oculocutaneous albinism associated with Chen's iridal rings (secondary to equatorial lenticular shadows). ( 17694824 )
2007
159
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. ( 17960121 )
2007
160
SLC45A2 variations in Indian oculocutaneous albinism patients. ( 17768386 )
2007
161
Oculocutaneous albinism in a rural community of South Africa: a population genetic study. ( 17620156 )
2007
162
Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. ( 17385796 )
2007
163
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. ( 17355913 )
2007
164
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter. ( 17931990 )
2007
165
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. ( 16965274 )
2006
166
Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. ( 16570240 )
2006
167
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. ( 17041891 )
2006
168
[A new form of Oculocutaneous albinism, OCA4]. ( 16963427 )
2006
169
A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism. ( 16517127 )
2006
170
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? ( 16868655 )
2006
171
Two novel mutations detected in Japanese patients with oculocutaneous albinism. ( 17008060 )
2006
172
[Prenatal gene diagnosis of oculocutaneous albinism type I]. ( 16767664 )
2006
173
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
174
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
175
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. ( 16417222 )
2006
176
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. ( 17090889 )
2006
177
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. ( 16704458 )
2006
178
Topographical retinal function in oculocutaneous albinism. ( 16765699 )
2006
179
Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). ( 16098056 )
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
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. ( 15996218 )
2005
183
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. ( 15942220 )
2005
184
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. ( 15565285 )
2005
185
Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene. ( 16170149 )
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
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. ( 15937636 )
2005
189
A Case of oculocutaneous albinism in a Maltese. ( 16294003 )
2005
190
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. ( 16225631 )
2005
191
P gene mutations associated with oculocutaneous albinism type II (OCA2). ( 15712365 )
2005
192
Choroidal amelanotic melanoma in a patient with oculocutaneous albinism. ( 16391642 )
2005
193
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. ( 15381243 )
2004
194
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. ( 14961451 )
2004
195
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. ( 15635296 )
2004
196
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. ( 15173252 )
2004
197
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. ( 14722913 )
2004
198
A case of familial trichomegaly in association with oculocutaneous albinism type 1. ( 14752500 )
2004
199
Oculocutaneous albinism and spurious pulse oximetry. ( 14742411 )
2004
200
Coinheritance of two rare genodermatoses (Papillon-LefA"vre syndrome and oculocutaneous albinism type 1) in two families: a genetic study. ( 15606524 )
2004
201
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. ( 13680365 )
2003
202
Amelanotic melanoma in a child with oculocutaneous albinism. ( 12825234 )
2003
203
Oculocutaneous albinism. ( 12702061 )
2003
204
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. ( 12713581 )
2003
205
Oculocutaneous albinism type 1: the last 100 years. ( 12753405 )
2003
206
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. ( 12749060 )
2003
207
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
208
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). ( 12876664 )
2003
209
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. ( 12469324 )
2003
210
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). ( 12727022 )
2003
211
Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. ( 11860983 )
2002
212
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). ( 11858948 )
2002
213
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. ( 12028586 )
2002
214
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. ( 12128226 )
2002
215
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. ( 11295837 )
2001
216
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
217
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. ( 11310796 )
2001
218
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
219
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. ( 11574907 )
2001
220
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. ( 11284711 )
2001
221
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. ( 11134238 )
2001
222
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. ( 11384158 )
2001
223
Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele. ( 11260608 )
2001
224
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. ( 11179026 )
2001
225
Tyrp1 and oculocutaneous albinism type 3. ( 11775055 )
2001
226
Small-bowel stricture in a woman with oculocutaneous albinism (Hermansky-Pudlak syndrome). ( 10749270 )
2000
227
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
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
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. ( 10905897 )
2000
231
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. ( 10649493 )
2000
232
Malignant melanoma in a patient with oculocutaneous albinism. ( 11003720 )
2000
233
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. ( 11041207 )
2000
234
Electron microscopic DOPA reaction test for oculocutaneous albinism. ( 10929771 )
2000
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
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. ( 10571953 )
1999
239
Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience. ( 10441617 )
1999
240
A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. ( 10559577 )
1999
241
Oculocutaneous albinism. ( 10332009 )
1999
242
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). ( 10671066 )
1998
243
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. ( 9568405 )
1998
244
Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients. ( 9879192 )
1998
245
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). ( 9562579 )
1998
246
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). ( 10671067 )
1998
247
Metastatic melanoma of the nasal cavity in a patient with oculocutaneous albinism. ( 9890545 )
1998
248
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. ( 9163730 )
1997
249
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. ( 9099845 )
1997
250
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). ( 9259203 )
1997
251
Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. ( 9321758 )
1997
252
DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1). ( 9560949 )
1997
253
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). ( 9259202 )
1997
254
Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism. ( 9170165 )
1997
255
Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. ( 9059668 )
1997
256
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. ( 9341887 )
1997
257
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. ( 9345097 )
1997
258
Diagnosis of oculocutaneous albinism with molecular analysis. ( 8644824 )
1996
259
Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism. ( 8996965 )
1996
260
Oculocutaneous albinism. ( 8804841 )
1996
261
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
262
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
263
Distribution of oculocutaneous albinism in Zimbabwe. ( 8863154 )
1996
264
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. ( 8953413 )
1996
265
Histology of fetal eyes with oculocutaneous albinism. ( 8619776 )
1996
266
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. ( 8618053 )
1996
267
Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. ( 7636828 )
1995
268
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. ( 7887411 )
1995
269
Epidermal melanocytes in normal and tyrosinase-negative oculocutaneous albinism fetuses. ( 7487137 )
1995
270
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. ( 8592327 )
1995
271
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A). ( 7617575 )
1995
272
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). ( 7762554 )
1995
273
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. ( 7920637 )
1994
274
Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. ( 8025067 )
1994
275
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. ( 8198130 )
1994
276
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. ( 8302318 )
1994
277
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). ( 7874125 )
1994
278
Molecular genetics of oculocutaneous albinism. ( 7849740 )
1994
279
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? ( 8042664 )
1994
280
Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. ( 7991586 )
1994
281
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). ( 7886000 )
1994
282
Molecular basis of oculocutaneous albinism. ( 7963676 )
1994
283
Ophthalmic features of minimal pigment oculocutaneous albinism. ( 8190479 )
1994
284
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. ( 8128955 )
1994
285
Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism. ( 8051921 )
1994
286
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin. ( 7937580 )
1994
287
Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. ( 8027570 )
1994
288
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). ( 7902671 )
1993
289
Oculocutaneous Albinism Type 2 ( 20301410 )
1993
290
A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. ( 8364542 )
1993
291
Oculocutaneous Albinism Type 4 ( 20301683 )
1993
292
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. ( 8477259 )
1993
293
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. ( 8434585 )
1993
294
Pathogenesis of the platinum (cp) mutation, a model for oculocutaneous albinism. ( 7688401 )
1993
295
Amelanotic metastatic melanoma in a patient with oculocutaneous albinism. ( 8491890 )
1993
296
Oculocutaneous Albinism Type 1 ( 20301345 )
1993
297
Molecular genetics of oculocutaneous albinism. ( 8217557 )
1993
298
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. ( 8421497 )
1993
299
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
300
The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism. ( 1409411 )
1992
301
Malignant melanoma occurring in a case of oculocutaneous albinism. ( 1634204 )
1992
302
Malignant melanoma in a child with oculocutaneous albinism. ( 1405654 )
1992
303
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. ( 1642278 )
1992
304
Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism. ( 1498098 )
1992
305
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. ( 1415228 )
1992
306
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. ( 1355848 )
1992
307
Oculocutaneous albinism: variable expressivity of nystagmus in a sibship. ( 1432506 )
1992
308
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. ( 1487241 )
1992
309
Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism. ( 1292009 )
1992
310
Mutations of the tyrosinase gene in oculocutaneous albinism. ( 1292010 )
1992
311
Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene. ( 1409445 )
1992
312
Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism. ( 1409426 )
1992
313
Posterior chamber intraocular lens implantation in a patient with oculocutaneous albinism. ( 1403762 )
1992
314
Foveal hypoplasia in complete oculocutaneous albinism. A histopathologic study. ( 1410836 )
1992
315
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. ( 1711223 )
1991
316
Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism. ( 1676041 )
1991
317
Duane syndrome associated with oculocutaneous albinism. ( 2019956 )
1991
318
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. ( 1905879 )
1991
319
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. ( 1943686 )
1991
320
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
321
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
322
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. ( 1832718 )
1991
323
Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. ( 1903591 )
1991
324
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. ( 1899321 )
1991
325
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. ( 1900307 )
1991
326
In quest of the tyrosinase-positive oculocutaneous albinism gene. ( 1982896 )
1990
327
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. ( 1970634 )
1990
328
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. ( 2342539 )
1990
329
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
330
Oculocutaneous albinism in Cameroon. A 15-year follow-up study. ( 2096353 )
1990
331
A hereditary syndrome association of oculocutaneous albinism, dysmorphic features and short stature. ( 2280979 )
1990
332
Oculocutaneous albinism and schizophrenia-like psychosis. ( 2915216 )
1989
333
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. ( 2511845 )
1989
334
Malignant melanoma in oculocutaneous albinism. ( 2684028 )
1989
335
Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype. ( 2732995 )
1989
336
Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism. ( 2517365 )
1989
337
Electroretinographic findings in human oculocutaneous albinism. ( 2516301 )
1989
338
Oculocutaneous albinism associated with congenital glaucoma. ( 3405593 )
1988
339
The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man. ( 3130302 )
1988
340
Mechanisms of hypopigmentation in human oculocutaneous albinism. ( 3285349 )
1988
341
Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. ( 3148727 )
1988
342
Developmental glaucoma in oculocutaneous albinism. ( 3405588 )
1988
343
Zinc and copper metabolism in oculocutaneous albinism in the Caucasian. ( 3133536 )
1986
344
Minimal pigment: a new type of oculocutaneous albinism. ( 3081286 )
1986
345
Oculocutaneous albinism and schizophrenia. ( 3730462 )
1986
346
Segregation analysis of brown oculocutaneous albinism. ( 3742854 )
1986
347
Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization. ( 3935994 )
1985
348
Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism. ( 2408424 )
1985
349
Histopathologic evaluation of melanocytic nervi in oculocutaneous albinism. ( 2484848 )
1985
350
Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. ( 3918447 )
1985
351
Visual acuity development in tyrosinase negative oculocutaneous albinism. ( 6425027 )
1984
352
Dysplastic nevus syndrome with multiple primary amelanotic melanomas in oculocutaneous albinism. ( 6490997 )
1984
353
Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence. ( 6499256 )
1984
354
Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. ( 6827132 )
1983
355
Oculocutaneous albinism, platelet storage pool disease, and progressive lupus nephritis. ( 6340629 )
1983
356
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. ( 6616879 )
1983
357
Copper metabolism study in oculocutaneous albinism. ( 6656620 )
1983
358
Malignant melanoma with oculocutaneous albinism. ( 7142477 )
1982
359
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). ( 7065089 )
1982
360
Oculocutaneous albinism with Axenfeld's anomaly. ( 6789680 )
1981
361
Allelism in human oculocutaneous albinism. ( 6787918 )
1981
362
Oculocutaneous albinism associated with corneal mesodermal dysgenesis. ( 7211991 )
1981
363
Can oculocutaneous albinism be diagnosed prenatally? ( 7346821 )
1981
364
Oculocutaneous albinism and corneal mesodermal dysgenesis. ( 7294125 )
1981
365
Lentigo maligna in a woman with oculocutaneous albinism. ( 7247429 )
1981
366
Partial oculocutaneous albinism in Mystromys albicaudatus: nonhomology with the Chediak-Higashi syndrome. ( 439847 )
1979
367
Familial diffuse interstitial pulmonary fibrosis associated with oculocutaneous albinism. Report of two cases with a family study. ( 493902 )
1979
368
Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation. ( 115122 )
1978
369
Oculocutaneous albinism associated with motor neuron disease. ( 632111 )
1978
370
Oculocutaneous albinism and mental disorder. A report of two autistic boys. ( 413782 )
1978
371
Oculocutaneous albinism associated with Apert's syndrome. ( 596398 )
1977
372
Trysinase positive oculocutaneous albinism in the goldfish, Carassius auratus l., and ultrastructural and biochemical study of the eye. ( 411572 )
1977
373
Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. ( 15451 )
1977
374
Oculocutaneous albinism and multiple pigmented naevi. ( 414774 )
1977
375
Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. ( 940919 )
1976
376
Hairbulb tyrosinase activity in oculocutaneous albinism. ( 822352 )
1976
377
Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. ( 4351103 )
1973
378
Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. ( 4624656 )
1972
379
Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. ( 5173133 )
1971
380
Investigation of a case of oculocutaneous albinism. ( 5006146 )
1971
381
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)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
2 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
3 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
4 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973

Expression for Oculocutaneous Albinism

Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for Oculocutaneous Albinism

Pathways related to Oculocutaneous Albinism according to KEGG:

36
(showing 2, show less)
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Melanogenesis hsa04916

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

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

Sources for Oculocutaneous Albinism

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