OCA4
MCID: OCL019
MIFTS: 38

Oculocutaneous Albinism Type 4 (OCA4) malady

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

Summaries for Oculocutaneous Albinism Type 4

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MalaCards based summary: Oculocutaneous Albinism Type 4, also known as albinism, oculocutaneous, type iv, is related to albinism and oculocutaneous albinism, and has symptoms including strabismus, hypopigmentation of hair and generalized hypopigmentation. 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:46 606574

GeneReviews summary for oca4

Aliases & Classifications for Oculocutaneous Albinism Type 4

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Sources:
20GeneReviews, 21GeneTests, 23GTR, 48Orphanet, 46OMIM, 61UMLS, 27ICD10 via Orphanet
See all sources

Oculocutaneous Albinism Type 4, Aliases & Descriptions:

Name: Oculocutaneous Albinism Type 4 20 21 23 48
Albinism, Oculocutaneous, Type Iv 46 61
 
Oca4 20 48


Classifications:



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


External Ids:

OMIM46 606574
ICD10 via Orphanet27 E70.3

Related Diseases for Oculocutaneous Albinism Type 4

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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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Clinical features from OMIM:

606574

Symptoms:

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

HPO human phenotypes related to Oculocutaneous Albinism Type 4:

(show all 18)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 hypopigmentation of hair hallmark (90%) HP:0005599
3 generalized hypopigmentation hallmark (90%) HP:0007513
4 visual impairment typical (50%) HP:0000505
5 photophobia typical (50%) HP:0000613
6 nystagmus typical (50%) HP:0000639
7 optic atrophy typical (50%) HP:0000648
8 ocular albinism typical (50%) HP:0001107
9 abnormal retinal pigmentation typical (50%) HP:0007703
10 abnormality of the macula occasional (7.5%) HP:0001103
11 neoplasm of the skin occasional (7.5%) HP:0008069
12 autosomal recessive inheritance HP:0000007
13 visual impairment HP:0000505
14 blue irides HP:0000635
15 nystagmus HP:0000639
16 macular hypoplasia HP:0001104
17 hypopigmentation of hair HP:0005599
18 hypopigmentation of the fundus HP:0007894

Drugs & Therapeutics for Oculocutaneous Albinism Type 4

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Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism Type 4

Search NIH Clinical Center for Oculocutaneous Albinism Type 4

Genetic Tests for Oculocutaneous Albinism Type 4

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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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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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MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 4:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.3SLC45A2, TYRP1
2MP:00011869.0SLC45A2, TYRP1

Publications for Oculocutaneous Albinism Type 4

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Articles related to Oculocutaneous Albinism Type 4:

idTitleAuthorsYear
1
A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping. (25296693)
2014
2
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. (22987308)
2012
3
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. (18245373)
2008
4
A Chinese case of oculocutaneous albinism type 4 with two novel mutations. (18986462)
2008
5
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. (16965274)
2006
6
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (14722913)
2004
7
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. (14961451)
2004
8
Oculocutaneous Albinism Type 4 (20301683)
1993

Variations for Oculocutaneous Albinism Type 4

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UniProtKB/Swiss-Prot genetic disease variations for Oculocutaneous Albinism Type 4:

63 (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:

7
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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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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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
  • Proteins
  • Kits and Assays

Sources for Oculocutaneous Albinism Type 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet