OCA
MCID: OCL002
MIFTS: 56

Oculocutaneous Albinism (OCA) malady

Eye, Skin, Metabolic categories

Summaries for Oculocutaneous Albinism

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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 autosomal recessive inheritance, nystagmus and mild visual loss/impaired visual acuity. 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, whole blood and retina, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

NIH Rare Diseases:43 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:64 Oculocutaneous albinism is a form of albinism involving the eyes (\"oculo-\"), skin (\"-cutaneous\"),... more...

Description from OMIM:47 606574,203200,203290,606952,203100

Aliases & Classifications for Oculocutaneous Albinism

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 22GTR, 45Novoseek, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
oculocutaneous albinism:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

oculocutaneous albinism 8 43 21 10 49
albinism, oculocutaneous 43 22 21
oca 43 21 49
albinism oculocutaneous 45


External Ids:

Disease Ontology8 DOID:0050632
MESH via Orphanet36 D016115
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet58 63844009
UMLS via Orphanet62 C0078918

Related Diseases for Oculocutaneous Albinism

Sources:
17GeneCards, 18GeneDecks
See all sources

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 73)
idRelated DiseaseScoreTop Affiliating Genes
1albinism32.1SLC45A2, GPR143, MC1R, HPS1, TYRP1, TYR
2oculocutaneous albinism type 131.1TYR
3hermansky-pudlak syndrome31.0HPS3, HPS4, HPS1, HPS6, TYRP1, TYR
4oculocutaneous albinism type 230.9OCA2
5oculocutaneous albinism type 430.7SLC45A2
6amelanotic melanoma30.7TYRP1, TYR
7ocular albinism30.7GPR143, TYR
8chediak-higashi syndrome30.6TYR
9hermansky-pudlak syndrome 130.2HPS1
10strabismus30.2GPR143
11vitiligo30.2PMEL, TYR, TYRP1
12platelet storage pool deficiency30.2BLOC1S3, HPS6, HPS1, HPS4, HPS3
13oculocutaneous albinism type 1b10.7
14oculocutaneous albinism type 310.6
15rufous oculocutaneous albinism10.6
16albinism, oculocutaneous, type v10.6
17albinism, brown oculocutaneous10.5
18albinism, oculocutaneous, type vi10.5
19n syndrome10.4
20albinism, minimal pigment type10.4
21minimal pigment oculocutaneous albinism type 110.4
22angelman syndrome10.3
23prader-willi syndrome10.3
24char syndrome10.3
25pulmonary fibrosis, familial10.3
26hermansky pudlak syndrome 210.3
27brown oca10.3
28albinism, oculocutaneous, type ii, modifier of10.3
29polyploidy10.3
30burns10.2
31menkes disease10.2
32cryptorchidism10.2
33dysplastic nevus syndrome10.2
34autistic disorder10.2
35diffuse pulmonary fibrosis10.2
36wilson disease10.2
37duane retraction syndrome10.2
38acute kidney tubular necrosis10.2
39aneurysm disease10.2
40bipolar disorder10.2
41squamous cell carcinoma10.2
42sickle cell disease10.2
43short syndrome10.2
44actinic cheilitis10.2
45albinism deafness syndrome10.2
46albinism immunodeficiency10.2
47kotzot-richter syndrome10.2
48complement component deficiency10.2
49cryptophthalmos10.2
50familial interstitial fibrosis10.2

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



Diseases related to oculocutaneous albinism

Clinical Features for Oculocutaneous Albinism

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

606574,203200,203290,606952,203100

Symptoms:

49 (show all 17)
  • autosomal recessive inheritance
  • 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
  • myopia
  • albinism (hair)
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • hypermetropia
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • iris albinism/ocular albinism
  • astigmatism

Drugs & Therapeutics for Oculocutaneous Albinism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Oculocutaneous Albinism:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism22

Anatomical Context for Oculocutaneous Albinism

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Oculocutaneous Albinism:

33
Skin, Whole blood, Retina, Nk cells, T cells, B cells

Animal Models for Oculocutaneous Albinism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Oculocutaneous Albinism

Sources:
51PubMed
See all sources

Articles related to Oculocutaneous Albinism:

(show top 50)    (show all 325)
idTitleAuthorsYear
1
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. (24096233)
2014
2
Oculocutaneous albinism and skin cancer risk. (22757611)
2013
3
An interesting case of bilateral bifid insertion of superior rectus muscle as an intra-operative finding in a patient with oculocutaneous albinism. (23975092)
2013
4
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. (22987308)
2012
5
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. (21739261)
2011
6
Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism. (22031648)
2011
7
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. (21677667)
2011
8
Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]. (21287499)
2011
9
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. (21458243)
2011
10
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. (21996312)
2011
11
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. (20426782)
2010
12
Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II. (21491616)
2010
13
Oculocutaneous Albinism associated with Axenfeld's Anomaly: Three case reports. (21509091)
2010
14
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. (20447099)
2010
15
Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II. (19309806)
2009
16
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1. (18846608)
2008
17
Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect? (18202852)
2008
18
Lack of adequate sun protection for children with oculocutaneous albinism in South Africa. (18590551)
2008
19
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. (18245373)
2008
20
A Chinese case of oculocutaneous albinism type 4 with two novel mutations. (18986462)
2008
21
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. (17960121)
2007
22
Two novel mutations detected in Japanese patients with oculocutaneous albinism. (17008060)
2006
23
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (15996218)
2005
24
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. (15656822)
2005
25
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1. (15838715)
2005
26
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. (15937636)
2005
27
Reversion mutation of ib oculocutaneous albinism to wild-type pigmentation in medaka fish. (16162178)
2005
28
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. (15635296)
2004
29
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. (12469324)
2003
30
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. (11384158)
2001
31
Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. (11041370)
2000
32
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. (11041207)
2000
33
Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome? (11045591)
2000
34
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). (9259203)
1997
35
Oculocutaneous albinism. (8804841)
1996
36
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
37
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. (7887411)
1995
38
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. (7920637)
1994
39
Molecular genetics of oculocutaneous albinism. (7849740)
1994
40
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. (8302318)
1994
41
Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. (8025067)
1994
42
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. (8421497)
1993
43
Oculocutaneous Albinism Type 1 (20301345)
1993
44
Malignant melanoma occurring in a case of oculocutaneous albinism. (1634204)
1992
45
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. (1943686)
1991
46
Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism. (1676041)
1991
47
Malignant melanoma in oculocutaneous albinism. (2684028)
1989
48
Oculocutaneous albinism associated with congenital glaucoma. (3405593)
1988
49
Zinc and copper metabolism in oculocutaneous albinism in the Caucasian. (3133536)
1986
50
Oculocutaneous albinism and corneal mesodermal dysgenesis. (7294125)
1981

Genetic Variations for Oculocutaneous Albinism

Expression for genes affiliated with Oculocutaneous Albinism

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG
See all sources

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

Sources:
45Novoseek, 2BitterDB, 24HMDB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience
See all sources

Compounds related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1kojic acid4510.5TYRP1, TYR
2dhica4510.5TYRP1, TYR
3arbutin2 4511.4TYR, TYRP1
4phaeomelanin4510.4TYR, MC1R
5eumelanin4510.4MC1R, TYRP1, TYR
6dopaquinone45 2411.4TYRP1, TYR
7l-dopa29 2411.3GPR143, TYR
8hmba4510.2TYRP1, TYR
9levodopa45 1111.2TYR, TYRP1, HPS1, MC1R
10dopachrome4510.2MC1R, TYRP1, TYR, PMEL
11hemocyanin4510.1TYR, PMEL
12silver4510.0PMEL, TYRP1, MC1R
13ibmx45 29 6011.8MC1R, TYRP1, TYR

GO Terms for genes affiliated with Oculocutaneous Albinism

Sources:
16Gene Ontology
See all sources

Cellular components related to Oculocutaneous Albinism according to GeneCards/GeneDecks:

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

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1secretion of lysosomal enzymesGO:03329910.4HPS1, BLOC1S3
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:00699610.2HPS6, HPS3
6melanosome transportGO:03240210.1GPR143, BLOC1S3
7melanosome organizationGO:03243810.1PMEL, BLOC1S3, TYRP1, GPR143
8visual perceptionGO:00760110.1TYR, HPS1, GPR143, SLC45A2
9melanin biosynthetic processGO:04243810.0PMEL, OCA2, TYRP1, MC1R, SLC45A2
10melanocyte differentiationGO:0303189.9HPS4, HPS1, HPS6, TYRP1, OCA2, C10orf11
11lysosome organizationGO:0070409.9HPS4, HPS1
12blood coagulationGO:0075969.8ZFYVE20, HPS4, HPS1, HPS6

Products for genes affiliated with Oculocutaneous Albinism

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculocutaneous Albinism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet