OCA4
MCID: OCL019
MIFTS: 37

Oculocutaneous Albinism Type 4 (OCA4) malady

Genetic diseases, Eye diseases, Skin diseases, Rare diseases categories

Summaries for Oculocutaneous Albinism Type 4

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48OMIM, 20GeneReviews, 34MalaCards
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MalaCards: Oculocutaneous Albinism Type 4, also known as albinism, oculocutaneous, type iv, is related to albinism and oculocutaneous 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 phenotypes are vision/eye and pigmentation.

Description from OMIM:48 606574

GeneReviews summary for oca4

Aliases & Classifications for Oculocutaneous Albinism Type 4

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Sources:
20GeneReviews, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 20 21 23 50
albinism, oculocutaneous, type iv 48 63
oca4 20 50


External Ids:

OMIM48 606574
ICD10 via Orphanet27 E70.3

Related Diseases for Oculocutaneous Albinism Type 4

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of diseases related to Oculocutaneous Albinism Type 4:



Diseases related to oculocutaneous albinism type 4

Symptoms for Oculocutaneous Albinism Type 4

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48OMIM, 50Orphanet
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Clinical features from OMIM:

606574

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Oculocutaneous Albinism Type 4:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 421 23 SLC45A2

Anatomical Context for Oculocutaneous Albinism Type 4

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34MalaCards
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MalaCards organs/tissues related to Oculocutaneous Albinism Type 4:

34
Skin, Eye

Animal Models for Oculocutaneous Albinism Type 4 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 4:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.3SLC45A2, TYRP1
2MP:00011869.0SLC45A2, TYRP1

Publications for Oculocutaneous Albinism Type 4

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Sources:
53PubMed
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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
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. (16965274)
2006
5
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (14722913)
2004
6
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. (14961451)
2004
7
Oculocutaneous Albinism Type 4 (20301683)
1993

Variations for Oculocutaneous Albinism Type 4

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Oculocutaneous Albinism Type 4:

65 (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

Clinvar genetic disease variations for Oculocutaneous Albinism Type 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC45A2SLC45A2, IVS2, G-A, -1single nucleotide variantPathogenic
2SLC45A2NM_016180.3(SLC45A2): c.1082T> C (p.Leu361Pro)single nucleotide variantPathogenicrs121912619GRCh37Chr 5, 33951733: 33951733
3SLC45A2NM_016180.3(SLC45A2): c.986delC (p.Thr329Argfs)deletionPathogenicrs387906317GRCh37Chr 5, 33954512: 33954512
4SLC45A2NM_016180.3(SLC45A2): c.661_663delTTC (p.Phe221del)deletionPathogenicrs387906318GRCh37Chr 5, 33964021: 33964023
5SLC45A2NM_016180.3(SLC45A2): c.1457C> T (p.Ala486Val)single nucleotide variantPathogenicrs121912620GRCh37Chr 5, 33944889: 33944889
6SLC45A2NM_016180.3(SLC45A2): c.469G> A (p.Asp157Asn)single nucleotide variantPathogenicrs121912621GRCh37Chr 5, 33982434: 33982434
7SLC45A2SLC45A2, 1-BP DEL, 1121TdeletionPathogenic

Expression for genes affiliated with Oculocutaneous Albinism Type 4

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Sources:
2BioGPS, 16Gene 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:
17Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet