OCA4
MCID: OCL019
MIFTS: 23

Oculocutaneous Albinism Type 4 (OCA4) malady

Eye, Skin, Metabolic categories

Summaries for Oculocutaneous Albinism Type 4

Sources:
47OMIM, 19GeneReviews, 33MalaCards
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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 nystagmus, mild visual loss/impaired visual acuity and retinitis pigmentosa/retinal pigmentary changes. An important gene associated with Oculocutaneous Albinism Type 4 is SLC45A2 (solute carrier family 45, member 2). Related mouse phenotype pigmentation.

Description from OMIM:47 606574

GeneReviews summary for oca4

Aliases & Classifications for Oculocutaneous Albinism Type 4

Sources:
19GeneReviews, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 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 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 49
albinism, oculocutaneous, type iv 47 61
oca4 19 49


External Ids:

OMIM47 606574
ICD10 via Orphanet26 E70.3

Related Diseases for Oculocutaneous Albinism Type 4

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

idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism31.0SLC45A2, TYRP1
2albinism31.0SLC45A2, TYRP1
3oculocutaneous albinism type 110.0
4skin cancer10.0TYRP1
5ocular albinism10.0TYRP1, SLC45A2
6melanoma10.0SLC45A2, 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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

606574

Symptoms:

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

Drugs & Therapeutics for Oculocutaneous Albinism Type 4

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Oculocutaneous Albinism Type 4 or affiliated genes

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

MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 4:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3SLC45A2, TYRP1

Publications for Oculocutaneous Albinism Type 4

Genetic Variations for Oculocutaneous Albinism Type 4

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Oculocutaneous Albinism Type 4:

63 (show all 13)
id Symbol AA change Variation 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

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

Compounds for genes affiliated with Oculocutaneous Albinism Type 4

GO Terms for genes affiliated with Oculocutaneous Albinism Type 4

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculocutaneous Albinism Type 4

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