OCA
MCID: OCL002
MIFTS: 60

Oculocutaneous Albinism (OCA) malady

Eye diseases, Skin diseases, Metabolic diseases categories

Summaries for Oculocutaneous Albinism

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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: Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to albinism and oculocutaneous albinism type 1, and has symptoms including astigmatism, iris albinism/ocular albinism and skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma). An important gene associated with Oculocutaneous Albinism is TYR (tyrosinase), and among its related pathways are Phenylalanine metabolism and Basal cell carcinoma. The compounds kojic acid and dhica have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

NIH Rare Diseases:42 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. last updated: 10/17/2012

Wikipedia:63 Oculocutaneous albinism is a form of albinism involving the eyes (\"oculo-\"), skin (\"-cutaneous\"),... more...

Description from OMIM:46 606574,203200,203290,606952,203100

Aliases & Classifications for Oculocutaneous Albinism

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 22GTR, 44Novoseek, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
oculocutaneous albinism:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

oculocutaneous albinism 8 42 21 10 48
albinism, oculocutaneous 42 22 21
oca 42 21 48
albinism oculocutaneous 44


External Ids:

Disease Ontology8 DOID:0050632
MESH via Orphanet35 D016115
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet57 63844009
UMLS via Orphanet61 C0078918

Related Diseases for Oculocutaneous Albinism

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17GeneCards, 18GeneDecks
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Diseases in the Oculocutaneous Albinism Type 1 family:

oculocutaneous albinism Oculocutaneous Albinism Type 2
Oculocutaneous Albinism Type 4 Oculocutaneous Albinism Type 3
Oculocutaneous Albinism Type 1b Albinism, Oculocutaneous, Type V
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type Vi

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1albinism32.0OCA2, TYR, TYRP1, HPS1, MC1R, GPR143
2oculocutaneous albinism type 131.3TYR
3oculocutaneous albinism type 231.2OCA2
4oculocutaneous albinism type 431.0SLC45A2
5hermansky-pudlak syndrome30.9OCA2, BLOC1S3, TYR, TYRP1, HPS6, HPS1
6melanoma30.9TYR, TYRP1, HPS1, GPR143, SLC45A2, MC1R
7ocular albinism30.7GPR143, TYR
8amelanotic melanoma30.7TYR, TYRP1
9chediak-higashi syndrome30.5TYR
10pulmonary fibrosis30.4HPS1, HPS4, HPS3
11hermansky-pudlak syndrome 130.2HPS1
12strabismus30.2GPR143
13vitiligo30.2TYR, TYRP1, PMEL
14platelet storage pool deficiency30.2HPS1, HPS4, HPS3, HPS6, BLOC1S3
15oculocutaneous albinism type 1b10.6
16oculocutaneous albinism type 310.6
17rufous oculocutaneous albinism10.5
18albinism, oculocutaneous, type v10.4
19glaucoma10.4
20albinism, oculocutaneous, type vi10.4
21minimal pigment oculocutaneous albinism type 110.4
22angelman syndrome10.3
23choroiditis10.3
24prader-willi syndrome10.3
25schizophrenia10.3
26pulmonary fibrosis, familial10.3
27hermansky pudlak syndrome 210.3
28albinism, oculocutaneous, type ii, modifier of10.3
29burns10.1
30menkes disease10.1
31cryptorchidism10.1
32dysplastic nevus syndrome10.1
33autistic disorder10.1
34diffuse pulmonary fibrosis10.1
35neuronitis10.1
36duane retraction syndrome10.1
37acute kidney tubular necrosis10.1
38aneurysm disease10.1
39bipolar disorder10.1
40cheilitis10.1
41complement deficiency10.1
42diabetes mellitus10.1
43in situ carcinoma10.1
44keratoconus10.1
45meningitis10.1
46motor neuron disease10.1
47neutropenia10.1
48refractive error10.1
49retinitis10.1
50squamous cell carcinoma10.1

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



Diseases related to oculocutaneous albinism

Clinical Features for Oculocutaneous Albinism

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

606574,203200,203290,606952,203100

Symptoms:

48 (show all 17)
  • astigmatism
  • iris albinism/ocular albinism
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • hypermetropia
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • albinism (hair)
  • myopia
  • nystagmus
  • mild visual loss/impaired visual acuity
  • visual loss/blindness/amblyopia
  • photophobia
  • skin photosensitivity
  • strabismus/squint
  • macular dystrophy/absence/hypoplasia of the macula
  • anomalies of eyelids, eyelashes and lacrimal system
  • decreased hair pigmentation/hypopigmentation of hair
  • autosomal recessive inheritance

Drugs & Therapeutics for Oculocutaneous Albinism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Oculocutaneous Albinism

Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism

Search NIH Clinical Center for Oculocutaneous Albinism

Search CenterWatch for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

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22GTR
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Genetic tests related to Oculocutaneous Albinism:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism22

Anatomical Context for Oculocutaneous Albinism

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32MalaCards
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MalaCards organs/tissues related to Oculocutaneous Albinism:

32
Skin, Eye, Retina, Testes, Nk cells, Bone

Animal Models for Oculocutaneous Albinism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Oculocutaneous Albinism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.9HPS1, TYR, BLOC1S3, OCA2, MC1R
2MP:00053779.5MC1R, SLC24A5, HPS1, HPS6, TYRP1, BLOC1S3
3MP:00053829.4SLC24A5, MC1R, HPS4, HPS1, HPS6, TYRP1
4MP:00030129.3OCA2, HPS1, MC1R, HPS3, PMEL, TYR
5MP:00053769.0HPS1, HPS4, SLC45A2, HPS6, PMEL, CTSC
6MP:00053918.9OCA2, BLOC1S3, TYR, TYRP1, HPS6, SLC45A2
7MP:00011868.8HPS4, OCA2, BLOC1S3, TYR, TYRP1, HPS6
8MP:00107718.8SLC45A2, PMEL, CTSC, BLOC1S3, TYR, TYRP1

Publications for Oculocutaneous Albinism

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50PubMed
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Articles related to Oculocutaneous Albinism:

(show top 50)    (show all 325)
idTitleAuthorsYear
1
Microperimetric biofeedback in a patient with oculocutaneous albinism. (24093197)
2013
2
Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or CalAc--a study of 83 cases. (24308209)
2013
3
Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism. (23190901)
2013
4
An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. (23242301)
2012
5
Oculocutaneous albinism associated with multiple malformations and psychomotor retardation. (20537085)
2010
6
A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. (19397757)
2009
7
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. (19610114)
2009
8
Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1. (18383608)
2007
9
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter. (17931990)
2007
10
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
11
Prenatal gene diagnosis of oculocutaneous albinism type I]. (16767664)
2006
12
Topographical retinal function in oculocutaneous albinism. (16765699)
2006
13
A Case of oculocutaneous albinism in a Maltese. (16294003)
2005
14
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1. (15991333)
2005
15
P gene mutations associated with oculocutaneous albinism type II (OCA2). (15712365)
2005
16
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. (15173252)
2004
17
Oculocutaneous albinism and spurious pulse oximetry. (14742411)
2004
18
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
19
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. (12028586)
2002
20
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). (11858948)
2002
21
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
22
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. (10571953)
1999
23
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. (9568405)
1998
24
Histology of fetal eyes with oculocutaneous albinism. (8619776)
1996
25
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. (8953413)
1996
26
Distribution of oculocutaneous albinism in Zimbabwe. (8863154)
1996
27
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. (8592327)
1995
28
Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. (7636828)
1995
29
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). (7886000)
1994
30
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. (8128955)
1994
31
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. (8477259)
1993
32
Oculocutaneous Albinism Type 2 (20301410)
1993
33
Pathogenesis of the platinum (cp) mutation, a model for oculocutaneous albinism. (7688401)
1993
34
A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. (8364542)
1993
35
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. (1487241)
1992
36
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
37
Duane syndrome associated with oculocutaneous albinism. (2019956)
1991
38
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. (2342539)
1990
39
Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism. (2517365)
1989
40
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. (2511845)
1989
41
The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man. (3130302)
1988
42
Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. (3148727)
1988
43
Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence. (6499256)
1984
44
Malignant melanoma with oculocutaneous albinism. (7142477)
1982
45
Oculocutaneous albinism with Axenfeld's anomaly. (6789680)
1981
46
Partial oculocutaneous albinism in Mystromys albicaudatus: nonhomology with the Chediak-Higashi syndrome. (439847)
1979
47
X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. (985163)
1976
48
Hairbulb tyrosinase activity in oculocutaneous albinism. (822352)
1976
49
Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. (4351103)
1973
50
Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. (4624656)
1972

Genetic Variations for Oculocutaneous Albinism

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Expression for genes affiliated with Oculocutaneous Albinism

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculocutaneous Albinism

Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for genes affiliated with Oculocutaneous Albinism

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29KEGG
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Pathways related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2TYRP1, TYR
2
Hide members
10.1MC1R, TYRP1, TYR

Compounds for genes affiliated with Oculocutaneous Albinism

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44Novoseek, 2BitterDB, 24HMDB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience
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Compounds related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1kojic acid4410.5TYRP1, TYR
2dhica4410.5TYRP1, TYR
3arbutin2 4411.4TYR, TYRP1
4phaeomelanin4410.4TYR, MC1R
5eumelanin4410.4MC1R, TYRP1, TYR
6dopaquinone44 2411.4TYRP1, TYR
7l-dopa28 2411.3GPR143, TYR
8hmba4410.2TYRP1, TYR
9levodopa44 1111.2TYR, TYRP1, HPS1, MC1R
10dopachrome4410.2MC1R, TYRP1, TYR, PMEL
11hemocyanin4410.1TYR, PMEL
12silver4410.0PMEL, TYRP1, MC1R
13ibmx44 28 5911.8MC1R, TYRP1, TYR

GO Terms for genes affiliated with Oculocutaneous Albinism

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16Gene Ontology
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Cellular components related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:01000810.0OCA2, TYRP1, ZFYVE20
2melanosome membraneGO:0331629.8TYRP1, GPR143, SLC45A2, OCA2, TYR
3lysosomeGO:0057649.6CTSC, TYR, HPS1, HPS4
4melanosomeGO:0424709.5GPR143, HPS4, TYRP1, TYR, SLC24A5, PMEL

Biological processes related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1secretion of lysosomal enzymesGO:03329910.4BLOC1S3, HPS1
2eye pigment biosynthetic processGO:00672610.3GPR143, TYR, OCA2
3positive regulation of natural killer cell activationGO:03281610.3HPS1, BLOC1S3
4pigmentationGO:04347310.2BLOC1S3, HPS3, MC1R
5organelle organizationGO:00699610.2HPS3, HPS6
6melanosome transportGO:03240210.1BLOC1S3, GPR143
7melanosome organizationGO:03243810.1PMEL, TYRP1, GPR143, BLOC1S3
8visual perceptionGO:00760110.1TYR, HPS1, GPR143, SLC45A2
9melanin biosynthetic processGO:04243810.0PMEL, SLC45A2, OCA2, MC1R, TYRP1
10melanocyte differentiationGO:0303189.9OCA2, HPS1, HPS6, TYRP1, C10orf11, HPS4
11lysosome organizationGO:0070409.9HPS4, HPS1
12blood coagulationGO:0075969.8HPS6, HPS1, ZFYVE20, HPS4

Products for genes affiliated with Oculocutaneous Albinism

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Sources for Oculocutaneous Albinism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet