OCA
MCID: OCL002
MIFTS: 60

Oculocutaneous Albinism (OCA)

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

Aliases & Classifications for Oculocutaneous Albinism

MalaCards integrated aliases for Oculocutaneous Albinism:

Name: Oculocutaneous Albinism 12 52 25 58 36 29 6 15
Albinism, Oculocutaneous 52 25 43 39
Oca 52 25 58
Albinism Oculocutaneous 54

Characteristics:

Orphanet epidemiological data:

58
oculocutaneous albinism
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050632
KEGG 36 H00168
MeSH 43 D016115
ICD10 32 E70.3
MESH via Orphanet 44 D016115
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C0078918
Orphanet 58 ORPHA55

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). Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2. Several additional types of this disorder have been proposed, each affecting one or a few families.

MalaCards based summary : Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to syndromic oculocutaneous albinism and albinism, oculocutaneous, type ia. 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 cutaneous photosensitivity and nystagmus

Disease Ontology : 12 A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.

NIH Rare Diseases : 52 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 gene mutations 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.

KEGG : 36 Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes.

Wikipedia : 74 Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and... more...

Related Diseases for Oculocutaneous Albinism

Diseases in the Oculocutaneous Albinism family:

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

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

(show top 50) (show all 221)
# Related Disease Score Top Affiliating Genes
1 syndromic oculocutaneous albinism 33.9 SLC24A5 OCA5 OCA2 HPS6 CD63
2 albinism, oculocutaneous, type ia 33.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
3 hermansky-pudlak syndrome 2 33.8 HPS3 CD63 AP3B1
4 albinism, oculocutaneous, type ib 33.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
5 albinism, oculocutaneous, type vii 33.6 TYRP1 SLC45A2 SLC24A5 OCA5 OCA2 LRMDA
6 albinism, oculocutaneous, type v 33.6 TYRP1 TYR SLC45A2 SLC24A5 OCA5 OCA2
7 chediak-higashi syndrome 33.6 TYRP1 TYR HPS1 CD63 AP3B1
8 albinism, oculocutaneous, type iii 33.5 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
9 albinism, oculocutaneous, type iv 33.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
10 albinism, oculocutaneous, type ii 33.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
11 hermansky-pudlak syndrome 5 33.2 HPS6 HPS5
12 hermansky-pudlak syndrome 6 33.0 HPS6 HPS5
13 hermansky-pudlak syndrome 3 32.8 HPS6 HPS5 HPS3
14 hermansky-pudlak syndrome 1 32.7 SLC24A5 HPS4 HPS1 DTNBP1 AP3B1
15 hermansky-pudlak syndrome 9 32.5 HPS4 BLOC1S6
16 albinism 31.6 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
17 congenital nystagmus 31.1 TYR OCA2 MC1R
18 melanoma 31.0 TYRP1 TYR SLC45A2 OCA2 MC1R CD63
19 skin melanoma 31.0 TYR MC1R CD63
20 hermansky-pudlak syndrome with pulmonary fibrosis 30.8 HPS4 HPS1
21 vitiligo-associated multiple autoimmune disease susceptibility 1 30.6 TYRP1 TYR MC1R
22 exotropia 30.5 HPS3 BLOC1S3
23 pulmonary fibrosis 30.5 HPS6 HPS5 HPS4 HPS3 HPS1
24 hermansky-pudlak syndrome 30.4 TYRP1 TYR SLC45A2 RAB38 OCA2 HPS6
25 pathologic nystagmus 30.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
26 ocular albinism 30.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
27 lentigines 30.2 TYR MC1R
28 piebald trait 30.1 TYRP1 TYR SLC45A2 RAB38 OCA2 MC1R
29 storage pool platelet disease 28.9 HPS6 HPS5 HPS4 HPS3 DTNBP1 CD63
30 albinism, oculocutaneous, type vi 12.4
31 minimal pigment oculocutaneous albinism type 1 12.4
32 hermansky-pudlak syndrome 4 11.9
33 albinism-microcephaly-digital anomalies syndrome 11.9
34 kotzot-richter syndrome 11.7
35 primary biliary cirrhosis 11.7
36 hermansky-pudlak syndrome 10 11.5
37 hermansky-pudlak syndrome 7 11.4
38 hermansky-pudlak syndrome 8 11.4
39 autosomal recessive disease 10.9
40 skin carcinoma 10.7
41 hypopigmentation of the skin 10.7
42 strabismus 10.7
43 mechanical strabismus 10.7
44 refractive error 10.7
45 melanoma, cutaneous malignant 10 10.6
46 amelanotic melanoma 10.5
47 angelman syndrome 10.5
48 astigmatism 10.5
49 joint laxity, short stature, and myopia 10.5
50 myopia 10.5

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:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 generalized hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007513
4 white hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0011364
5 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
6 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
7 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
8 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
9 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
10 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
11 white eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0002227
12 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
13 hypoplasia of the fovea 58 31 frequent (33%) Frequent (79-30%) HP:0007750
14 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
15 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
16 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
17 hypopigmentation of hair 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Oculocutaneous Albinism:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 AP3B1 BLOC1S3 BLOC1S6 CD63 DTNBP1 HPS6
2 growth/size/body region MP:0005378 10.31 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 HPS5
3 homeostasis/metabolism MP:0005376 10.31 AP3B1 BLOC1S6 CD63 DTNBP1 HPS1 HPS3
4 hematopoietic system MP:0005397 10.27 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
5 integument MP:0010771 10.27 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
6 hearing/vestibular/ear MP:0005377 10.26 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS4 HPS5
7 craniofacial MP:0005382 10.25 AP3B1 BLOC1S3 HPS1 HPS4 HPS5 HPS6
8 immune system MP:0005387 10.14 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
9 pigmentation MP:0001186 10.06 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
10 limbs/digits/tail MP:0005371 9.92 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS5 MC1R
11 no phenotypic analysis MP:0003012 9.86 AP3B1 HPS1 HPS3 HPS5 MC1R OCA2
12 renal/urinary system MP:0005367 9.65 AP3B1 BLOC1S6 CD63 DTNBP1 HPS1 HPS4
13 vision/eye MP:0005391 9.5 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3

Drugs & Therapeutics for Oculocutaneous Albinism

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

(show all 43)
# 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
Levodopa Approved Phase 2 59-92-7 6047
4
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
5
Carbidopa Approved Phase 2 28860-95-9 34359
6
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560 441411
7
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
8
Angiotensin II Approved, Investigational Phase 1, Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
9
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
10
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
11 Dihydroxyphenylalanine Phase 2
12 Antiparkinson Agents Phase 2
13 Neurotransmitter Agents Phase 2
14 Carbidopa, levodopa drug combination Phase 2
15 Dopamine Agents Phase 2
16 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
17 Erythromycin Estolate Phase 1, Phase 2
18 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
19 Respiratory System Agents Phase 1, Phase 2
20 Angiotensinogen Phase 1, Phase 2
21 Pharmaceutical Solutions Phase 1, Phase 2
22 Erythromycin stearate Phase 1, Phase 2
23 Hormones Phase 1, Phase 2
24 Antihypertensive Agents Phase 1, Phase 2
25 Antioxidants Phase 1, Phase 2
26 Leukotriene Antagonists Phase 1, Phase 2
27 Hormone Antagonists Phase 1, Phase 2
28 Angiotensin Receptor Antagonists Phase 1, Phase 2
29 Anti-Arrhythmia Agents Phase 1, Phase 2
30 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
31 Lipid Regulating Agents Phase 1, Phase 2
32 Giapreza Phase 1, Phase 2
33 Antidotes Phase 1, Phase 2
34 Erythromycin Ethylsuccinate Phase 1, Phase 2
35 Anti-Infective Agents Phase 1, Phase 2
36 Anti-Bacterial Agents Phase 1, Phase 2
37 Expectorants Phase 1, Phase 2
38 Antiviral Agents Phase 1, Phase 2
39 Anticholesteremic Agents Phase 1, Phase 2
40 Protective Agents Phase 1, Phase 2
41 N-monoacetylcystine Phase 1, Phase 2
42 Hypolipidemic Agents Phase 1, Phase 2
43
Lutein Approved, Investigational, Nutraceutical 127-40-2 6433159

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Pilot Study of Nitisinone in the Treatment of Oculocutaneous Albinism, Type 1B Completed NCT01838655 Phase 1, Phase 2 Nitisinone
2 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
3 Clinical Trial to Evaluate Levodopa as Treatment to Improve Vision in Individuals With Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Placebo
4 Interventional Study of Levodopa Replacement on Retinal Function in Oculocutaneous Albinism Terminated NCT01663935 Phase 2 Levodopa/carbidopa
5 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
6 An Observational Study of the Immunopathogenesis of and Response to Step-Up Inflammatory Bowel Disease Therapy for Hermansky-Pudlak Syndrome-Associated Colitis Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
7 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
8 New Strategies of Genetic Study of Patients With Oculocutaneous Albinism Completed NCT04068961
9 A Randomized Placebo-controlled Trial to Investigate the Effect of Lutein and Zeaxanthin Supplementation on Macular Pigment and Visual Function in Albinism - LUtein for VIsion in Albinism (LUVIA) Completed NCT02200263
10 Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism Completed NCT00808106
11 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
12 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
13 Investigations Into Chediak-Higashi Syndrome and Related Disorders Recruiting NCT00005917
14 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847

Search NIH Clinical Center for Oculocutaneous Albinism

Cochrane evidence based reviews: albinism, oculocutaneous

Genetic Tests for Oculocutaneous Albinism

Genetic tests related to Oculocutaneous Albinism:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism 29

Anatomical Context for Oculocutaneous Albinism

MalaCards organs/tissues related to Oculocutaneous Albinism:

40
Skin, Eye, Retina, Lung, Testes, Bone, Nk Cells

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(show top 50) (show all 1025)
# Title Authors PMID Year
1
Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. 54 61
19710684 2010
2
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. 61 54
20019752 2010
3
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. 54 61
20447099 2010
4
Role of the ubiquitin proteasome system in regulating skin pigmentation. 54 61
20057953 2009
5
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. 54 61
19523149 2009
6
Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function. 54 61
19116314 2009
7
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 54 61
19208379 2009
8
Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2. 54 61
18528436 2008
9
[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism]. 54 61
18683130 2008
10
Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects. 61 54
18392143 2008
11
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 61 54
18326704 2008
12
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. 54 61
18245373 2008
13
Analysis and expression of Rab38 in oculocutaneous lung disease. 54 61
18413250 2008
14
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter. 61 54
17931990 2007
15
Novel insights from adaptor protein 3 complex deficiency. 61 54
17931556 2007
16
Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. 61 54
17570052 2007
17
SLC45A2 variations in Indian oculocutaneous albinism patients. 61 54
17768386 2007
18
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation. 54 61
17358008 2007
19
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. 61 54
17355913 2007
20
Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. 61 54
17385796 2007
21
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. 61 54
17568986 2007
22
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. 54 61
16965274 2006
23
OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene. 61 54
16907708 2006
24
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. 54 61
16704458 2006
25
Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. 61 54
16550546 2006
26
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. 61 54
16199032 2006
27
[Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families]. 54 61
16555521 2005
28
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. 61 54
15996218 2005
29
Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification. 61 54
15895460 2005
30
A Tyrosinase missense mutation causes albinism in the Wistar rat. 54 61
15760344 2005
31
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. 54 61
15635296 2004
32
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 61 54
15146472 2004
33
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. 61 54
14722913 2004
34
Syndromic albinism: a review of genetics and phenotypes. 61 54
14996378 2003
35
Coexpression of wild-type tyrosinase enhances maturation of temperature-sensitive tyrosinase mutants. 61 54
12190874 2002
36
Mutation of melanosome protein RAB38 in chocolate mice. 61 54
11917121 2002
37
Tyrp1 and oculocutaneous albinism type 3. 54 61
11775055 2001
38
Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. 61 54
11499678 2001
39
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. 61 54
11284711 2001
40
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. 61 54
11310796 2001
41
Identification of genes from a schizophrenia-linked translocation breakpoint region. 61 54
11352574 2001
42
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. 54 61
11179026 2001
43
The tyrosinase gene in gorillas and the albinism of 'Snowflake'. 54 61
11153699 2000
44
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. 61 54
11041207 2000
45
Mutant alleles at the brown locus encoding tyrosinase-related protein-1 (TRP-1) affect proliferation of mouse melanocytes in culture. 54 61
11041210 2000
46
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. 54 61
10823941 2000
47
Molecular basis of albinism in the rhesus monkey. 61 54
10751629 2000
48
Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. 54 61
11041370 2000
49
Human tyrosinase related protein-1 (TRP-1) does not function as a DHICA oxidase activity in contrast to murine TRP-1. 54 61
9758418 1998
50
Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. 54 61
9579545 1998

Variations for Oculocutaneous Albinism

ClinVar genetic disease variations for Oculocutaneous Albinism:

6 (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR):c.242C>T (p.Pro81Leu)SNV Pathogenic 3772 rs28940876 11:88911363-88911363 11:89178195-89178195
2 TYR NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)SNV Pathogenic 3790 rs28940879 11:88911285-88911285 11:89178117-89178117
3 TYR NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)SNV Pathogenic 3774 rs61754388 11:88961072-88961072 11:89227904-89227904
4 TYR NM_000372.5(TYR):c.832C>T (p.Arg278Ter)SNV Pathogenic 99583 rs62645904 11:88924382-88924382 11:89191214-89191214
5 TYR NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)SNV Pathogenic/Likely pathogenic 3777 rs104894313 11:89017973-89017973 11:89284805-89284805
6 TYR NM_000372.5(TYR):c.650G>A (p.Arg217Gln)SNV Pathogenic/Likely pathogenic 99575 rs61754365 11:88911771-88911771 11:89178603-89178603
7 TYR NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)SNV Pathogenic/Likely pathogenic 3801 rs104894317 11:89018092-89018092 11:89284924-89284924
8 TYR NM_000372.5(TYR):c.1037-7T>ASNV Pathogenic/Likely pathogenic 99527 rs61754381 11:88960984-88960984 11:89227816-89227816
9 TYR NM_000372.5(TYR):c.823G>T (p.Val275Phe)SNV Pathogenic/Likely pathogenic 3773 rs104894314 11:88924373-88924373 11:89191205-89191205
10 SLC24A5 NM_205850.3(SLC24A5):c.1078+1G>ASNV Likely pathogenic 667388 15:48431373-48431373 15:48139176-48139176
11 TYR NM_000372.5(TYR):c.573A>G (p.Gly191=)SNV Conflicting interpretations of pathogenicity 785373 11:88911694-88911694 11:89178526-89178526
12 TYR NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)SNV Conflicting interpretations of pathogenicity 585280 rs1031268531 11:88924530-88924530 11:89191362-89191362
13 TYR NM_000372.5(TYR):c.915C>A (p.Asp305Glu)SNV Conflicting interpretations of pathogenicity 418532 rs142170797 11:88924465-88924465 11:89191297-89191297
14 TYR NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)SNV Conflicting interpretations of pathogenicity, other 3779 rs1126809 11:89017961-89017961 11:89284793-89284793
15 OCA2 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)SNV Conflicting interpretations of pathogenicity 194918 rs371412500 15:28171332-28171332 15:27926186-27926186
16 TYR NM_000372.5(TYR):c.1064C>T (p.Ala355Val)SNV Conflicting interpretations of pathogenicity 212520 rs151206295 11:88961018-88961018 11:89227850-89227850
17 HPS4 NM_152841.2(HPS4):c.736A>T (p.Thr246Ser)SNV Conflicting interpretations of pathogenicity 341016 rs34962745 22:26861473-26861473 22:26465507-26465507
18 SLC45A2 NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs)short repeat Conflicting interpretations of pathogenicity 353216 rs753485165 5:33951738-33951739 5:33951633-33951634
19 TYRP1 NM_000550.3(TYRP1):c.*319_*320dupduplication Uncertain significance 364864 rs886063414 9:12709499-12709500 9:12709499-12709500
20 TYRP1 NM_000550.3(TYRP1):c.*955dupduplication Uncertain significance 364874 rs763340664 9:12710131-12710132 9:12710131-12710132
21 TYR NM_000372.5(TYR):c.-37G>ASNV Uncertain significance 306442 rs755069000 11:88911085-88911085 11:89177917-89177917
22 TYR NM_000372.5(TYR):c.1270T>A (p.Ser424Thr)SNV Uncertain significance 306445 rs748618759 11:89018026-89018026 11:89284858-89284858
23 SLC45A2 NM_016180.4(SLC45A2):c.*29C>GSNV Uncertain significance 353210 rs886060518 5:33944724-33944724 5:33944619-33944619
24 TYR NM_000372.5(TYR):c.*230G>ASNV Uncertain significance 306446 rs532489606 11:89028764-89028764 11:89295596-89295596
25 TYR NM_000372.5(TYR):c.194T>C (p.Leu65Pro)SNV Uncertain significance 306444 rs886048745 11:88911315-88911315 11:89178147-89178147
26 TYR NM_000372.5(TYR):c.-41A>GSNV Uncertain significance 306441 rs886048744 11:88911081-88911081 11:89177913-89177913
27 TYR NM_000372.5(TYR):c.191C>T (p.Pro64Leu)SNV Uncertain significance 306443 rs370798325 11:88911312-88911312 11:89178144-89178144
28 OCA2 NM_000275.3(OCA2):c.1504-12_1504-9deldeletion Uncertain significance 315465 rs886051022 15:28211977-28211980 15:27966831-27966834
29 TYR NM_000372.5(TYR):c.504C>T (p.Asn168=)SNV Uncertain significance 288251 rs148813091 11:88911625-88911625 11:89178457-89178457
30 TYR NM_000372.5(TYR):c.1366+4A>GSNV Uncertain significance 99548 rs61754398 11:89018126-89018126 11:89284958-89284958
31 TYR NM_000372.5(TYR):c.1446G>C (p.Ala482=)SNV Uncertain significance 499569 rs3913543 11:89028390-89028390 11:89295222-89295222
32 TYR NM_000372.5(TYR):c.665T>C (p.Ile222Thr)SNV Uncertain significance 499705 rs34878847 11:88911786-88911786 11:89178618-89178618
33 TYR NM_000372.5(TYR):c.1161T>C (p.Leu387=)SNV Uncertain significance 596458 rs141967840 11:88961115-88961115 11:89227947-89227947
34 TYR NM_000372.5(TYR):c.705T>G (p.Tyr235Ter)SNV Uncertain significance 631668 rs138817690 11:88911826-88911826 11:89178658-89178658
35 TYR NM_000372.5(TYR):c.67G>A (p.Ala23Thr)SNV Uncertain significance 882561 11:88911188-88911188 11:89178020-89178020
36 TYR NM_000372.5(TYR):c.454C>T (p.Pro152Ser)SNV Uncertain significance 883341 11:88911575-88911575 11:89178407-89178407
37 TYR NM_000372.5(TYR):c.464C>T (p.Thr155Ile)SNV Uncertain significance 883342 11:88911585-88911585 11:89178417-89178417
38 TYR NM_000372.5(TYR):c.833G>A (p.Arg278Gln)SNV Uncertain significance 880976 11:88924383-88924383 11:89191215-89191215
39 TYR NM_000372.5(TYR):c.978A>G (p.Gln326=)SNV Uncertain significance 880977 11:88924528-88924528 11:89191360-89191360
40 TYR NM_000372.5(TYR):c.1044T>C (p.Ala348=)SNV Uncertain significance 880978 11:88960998-88960998 11:89227830-89227830
41 TYR NM_000372.5(TYR):c.1065G>A (p.Ala355=)SNV Uncertain significance 882339 11:88961019-88961019 11:89227851-89227851
42 TYR NM_000372.5(TYR):c.1214G>A (p.Arg405His)SNV Uncertain significance 882340 11:89017970-89017970 11:89284802-89284802
43 TYR NM_000372.5(TYR):c.1307G>C (p.Gly436Ala)SNV Uncertain significance 882341 11:89018063-89018063 11:89284895-89284895
44 TYR NM_000372.5(TYR):c.1396T>G (p.Ser466Ala)SNV Uncertain significance 882342 11:89028340-89028340 11:89295172-89295172
45 TYR NM_000372.5(TYR):c.1525G>A (p.Glu509Lys)SNV Uncertain significance 882608 11:89028469-89028469 11:89295301-89295301
46 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*1070C>TSNV Likely benign 353238 rs16892064 5:33988128-33988128 5:33988023-33988023
47 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*982C>TSNV Likely benign 353239 rs16892066 5:33988216-33988216 5:33988111-33988111
48 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*617G>TSNV Likely benign 353245 rs12659370 5:33988581-33988581 5:33988476-33988476
49 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*1961G>ASNV Likely benign 353224 rs113746028 5:33987237-33987237 5:33987132-33987132
50 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*1144A>GSNV Likely benign 353237 rs840380 5:33988054-33988054 5:33987949-33987949

Cosmic variations for Oculocutaneous Albinism:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM118787231 skin,back,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 20

Expression for Oculocutaneous Albinism

Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for Oculocutaneous Albinism

Pathways related to Oculocutaneous Albinism according to KEGG:

36
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Melanogenesis hsa04916

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 RAB38 HPS4 HPS1 DTNBP1 BLOC1S6 BLOC1S3
2
Show member pathways
11.84 DTNBP1 BLOC1S6 BLOC1S3 AP3B1
3 11.39 RAB38 HPS4 HPS1
4 9.62 TYRP1 TYR SLC45A2 OCA2

GO Terms for Oculocutaneous Albinism

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.88 RAB38 HPS4 HPS1 DTNBP1 AP3B1
2 lysosome GO:0005764 9.85 TYR RAB38 HPS6 HPS4 HPS1 CD63
3 lysosomal membrane GO:0005765 9.83 OCA2 HPS6 HPS4 CD63 AP3B1
4 endosome membrane GO:0010008 9.76 TYRP1 OCA2 DTNBP1 CD63
5 axon cytoplasm GO:1904115 9.56 DTNBP1 BLOC1S6 BLOC1S3 AP3B1
6 BLOC-1 complex GO:0031083 9.5 DTNBP1 BLOC1S6 BLOC1S3
7 melanosome GO:0042470 9.43 TYRP1 TYR SLC24A5 RAB38 HPS4 CD63
8 BLOC-3 complex GO:0031085 9.4 HPS4 HPS1
9 BLOC-2 complex GO:0031084 9.33 HPS6 HPS5 HPS3
10 melanosome membrane GO:0033162 9.1 TYRP1 TYR SLC45A2 RAB38 OCA2 DTNBP1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.95 HPS6 HPS5 HPS4 DTNBP1 BLOC1S6 BLOC1S3
2 anterograde axonal transport GO:0008089 9.8 DTNBP1 BLOC1S6 BLOC1S3 AP3B1
3 neuron projection development GO:0031175 9.76 DTNBP1 BLOC1S6 BLOC1S3
4 anterograde synaptic vesicle transport GO:0048490 9.76 DTNBP1 BLOC1S6 BLOC1S3 AP3B1
5 endosome to melanosome transport GO:0035646 9.73 RAB38 CD63 BLOC1S6 BLOC1S3
6 melanosome organization GO:0032438 9.73 TYRP1 RAB38 DTNBP1 BLOC1S6 BLOC1S3 AP3B1
7 melanin biosynthetic process GO:0042438 9.72 TYRP1 TYR SLC45A2 OCA2 MC1R
8 lysosome organization GO:0007040 9.71 HPS4 HPS1 AP3B1
9 developmental pigmentation GO:0048066 9.69 SLC45A2 OCA2 BLOC1S3
10 platelet dense granule organization GO:0060155 9.67 RAB38 DTNBP1 BLOC1S3 AP3B1
11 melanosome assembly GO:1903232 9.65 RAB38 HPS4 HPS1
12 organelle organization GO:0006996 9.63 RAB38 HPS6 HPS5 HPS4 HPS3 DTNBP1
13 protein localization to membrane GO:0072657 9.58 RAB38 HPS6
14 melanosome transport GO:0032402 9.57 BLOC1S6 BLOC1S3
15 positive regulation of natural killer cell activation GO:0032816 9.56 BLOC1S6 BLOC1S3
16 secretion of lysosomal enzymes GO:0033299 9.55 BLOC1S6 BLOC1S3
17 eye pigment biosynthetic process GO:0006726 9.52 TYR OCA2
18 melanocyte differentiation GO:0030318 9.5 TYRP1 SLC24A5 OCA2 LRMDA HPS6 HPS4
19 pigmentation GO:0043473 9.36 TYRP1 TYR OCA2 MC1R HPS6 HPS5

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

# Name GO ID Score Top Affiliating Genes
1 monophenol monooxygenase activity GO:0004503 8.96 TYRP1 TYR
2 GTP-dependent protein binding GO:0030742 8.8 RAB38 HPS6 AP3B1

Sources for Oculocutaneous Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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