OCA4
MCID: OCL019
MIFTS: 38

Oculocutaneous Albinism Type 4 (OCA4) malady

Eye diseases, Skin diseases, Metabolic diseases categories

Summaries for Oculocutaneous Albinism Type 4

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46OMIM, 19GeneReviews, 32MalaCards
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MalaCards: Oculocutaneous Albinism Type 4, also known as albinism, oculocutaneous, type iv, is related to oculocutaneous albinism and albinism, and has symptoms including iris albinism/ocular albinism, skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma) and diffuse/generalised skin hypopigmentation/cutaneous albinism. An important gene associated with Oculocutaneous Albinism Type 4 is SLC45A2 (solute carrier family 45, member 2). Affiliated tissues include skin and eye, and related mouse phenotype pigmentation.

Description from OMIM:46 606574

GeneReviews summary for oca4

Aliases & Classifications for Oculocutaneous Albinism Type 4

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Sources:
19GeneReviews, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 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 type 4:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

oculocutaneous albinism type 4 19 20 22 48
albinism, oculocutaneous, type iv 46 60
oca4 19 48


External Ids:

OMIM46 606574
ICD10 via Orphanet26 E70.3

Related Diseases for Oculocutaneous Albinism Type 4

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Sources:
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 Type 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism31.0TYRP1, SLC45A2
2albinism31.0TYRP1, SLC45A2
3oculocutaneous albinism type 110.0
4melanoma10.0TYRP1, SLC45A2
5ocular albinism10.0SLC45A2, TYRP1

Graphical network of diseases related to Oculocutaneous Albinism Type 4:



Diseases related to oculocutaneous albinism type 4

Clinical Features for Oculocutaneous Albinism Type 4

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

606574

Symptoms:

48 (show all 11)
  • iris albinism/ocular albinism
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • decreased hair pigmentation/hypopigmentation of hair
  • macular dystrophy/absence/hypoplasia of the macula
  • strabismus/squint
  • photophobia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • retinitis pigmentosa/retinal pigmentary changes
  • mild visual loss/impaired visual acuity
  • nystagmus

Drugs & Therapeutics for Oculocutaneous Albinism Type 4

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Oculocutaneous Albinism Type 4

Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism Type 4

Search NIH Clinical Center for Oculocutaneous Albinism Type 4

Search CenterWatch for Oculocutaneous Albinism Type 4

Genetic Tests for Oculocutaneous Albinism Type 4

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20GeneTests, 22GTR
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Genetic tests related to Oculocutaneous Albinism Type 4:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 420 22 SLC45A2

Anatomical Context for Oculocutaneous Albinism Type 4

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Sources:
32MalaCards
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MalaCards organs/tissues related to Oculocutaneous Albinism Type 4:

32
Skin, Eye

Animal Models for Oculocutaneous Albinism Type 4 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 4:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3SLC45A2, TYRP1

Publications for Oculocutaneous Albinism Type 4

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50PubMed
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Articles related to Oculocutaneous Albinism Type 4:

idTitleAuthorsYear
1
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. (22987308)
2012
2
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. (18245373)
2008
3
A Chinese case of oculocutaneous albinism type 4 with two novel mutations. (18986462)
2008
4
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. (18407468)
2008
5
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. (17516931)
2007
6
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. (16965274)
2006
7
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (14722913)
2004
8
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. (14961451)
2004
9
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
10
Oculocutaneous Albinism Type 4 (20301683)
1993

Genetic Variations for Oculocutaneous Albinism Type 4

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Oculocutaneous Albinism Type 4:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1SLC45A2p.Pro58AlaVAR_022710
2SLC45A2p.Pro58SerVAR_022711
3SLC45A2p.Asp157AsnVAR_022712
4SLC45A2p.Gly188ValVAR_022713
5SLC45A2p.Trp202CysVAR_022714
6SLC45A2p.Tyr317CysVAR_022717
7SLC45A2p.Leu361ProVAR_022718rs28939380
8SLC45A2p.Ala477ThrVAR_022719
9SLC45A2p.Ala486ValVAR_022720
10SLC45A2p.Met42IleVAR_067071
11SLC45A2p.Gly64SerVAR_067072
12SLC45A2p.Thr302SerVAR_067073
13SLC45A2p.Arg348CysVAR_067074

Expression for genes affiliated with Oculocutaneous Albinism Type 4

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculocutaneous Albinism Type 4

Search GEO for disease gene expression data for Oculocutaneous Albinism Type 4.

Pathways for genes affiliated with Oculocutaneous Albinism Type 4

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Compounds for genes affiliated with Oculocutaneous Albinism Type 4

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GO Terms for genes affiliated with Oculocutaneous Albinism Type 4

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Sources:
16Gene Ontology
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Cellular components related to Oculocutaneous Albinism Type 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:0331629.3SLC45A2, TYRP1

Biological processes related to Oculocutaneous Albinism Type 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:0424389.3SLC45A2, TYRP1

Products for genes affiliated with Oculocutaneous Albinism Type 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculocutaneous Albinism Type 4

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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