MCID: ALB019
MIFTS: 30

Albinism, Oculocutaneous, Type Iv

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Iv:

Name: Albinism, Oculocutaneous, Type Iv 53
Oca4 53 23 55 71
Oculocutaneous Albinism, Type Iv 53 13 69
Oculocutaneous Albinism Type 4 23 55 28
Oculocutaneous Albinism Type Iv 71
Albinism, Oculocutaneous, 4 71

Characteristics:

Orphanet epidemiological data:

55
oculocutaneous albinism type 4
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

31
albinism, oculocutaneous, type iv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Albinism, Oculocutaneous, Type Iv

UniProtKB/Swiss-Prot : 71 Albinism, oculocutaneous, 4: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

MalaCards based summary : Albinism, Oculocutaneous, Type Iv, also known as oca4, is related to albinism and oculocutaneous albinism, and has symptoms including photophobia, nystagmus and visual impairment. An important gene associated with Albinism, Oculocutaneous, Type Iv is SLC45A2 (Solute Carrier Family 45 Member 2). Affiliated tissues include skin and eye.

Description from OMIM: 606574
GeneReviews: NBK1510

Related Diseases for Albinism, Oculocutaneous, Type Iv

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Ia
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Iii
Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type V

Diseases related to Albinism, Oculocutaneous, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 albinism 10.2
2 oculocutaneous albinism 10.2

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Iv

Clinical features from OMIM:

606574

Human phenotypes related to Albinism, Oculocutaneous, Type Iv:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 55 31 frequent (33%) Frequent (79-30%) HP:0000613
2 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
3 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
4 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
5 melanoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002861
6 hypopigmentation of hair 55 31 Very frequent (99-80%) HP:0005599
7 thickened skin 55 31 frequent (33%) Frequent (79-30%) HP:0001072
8 iris hypopigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007730
9 squamous cell carcinoma of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0006739
10 hypoplasia of the fovea 55 31 occasional (7.5%) Occasional (29-5%) HP:0007750
11 abnormality of the optic nerve 55 31 frequent (33%) Frequent (79-30%) HP:0000587
12 albinism 55 31 hallmark (90%) Very frequent (99-80%) HP:0001022
13 basal cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002671
14 blue irides 31 HP:0000635
15 hypopigmentation of the fundus 31 HP:0007894
16 hypopigmentation of the skin 55 Very frequent (99-80%)
17 macular hypoplasia 31 HP:0001104

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iv

Search Clinical Trials , NIH Clinical Center for Albinism, Oculocutaneous, Type Iv

Genetic Tests for Albinism, Oculocutaneous, Type Iv

Genetic tests related to Albinism, Oculocutaneous, Type Iv:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 4 28 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Iv:

38
Skin, Eye

Publications for Albinism, Oculocutaneous, Type Iv

Articles related to Albinism, Oculocutaneous, Type Iv:

(show all 12)
# Title Authors Year
1
Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4) - A Molecular Dynamics Approach. ( 27019209 )
2016
2
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
3
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015
4
[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family]. ( 22490798 )
2012
5
[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]. ( 21287499 )
2011
6
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. ( 19610114 )
2009
7
[A new form of Oculocutaneous albinism, OCA4]. ( 16963427 )
2006
8
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. ( 15656822 )
2005
9
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. ( 16225631 )
2005
10
OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean. ( 16162179 )
2005
11
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. ( 12128226 )
2002
12
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. ( 11574907 )
2001

Variations for Albinism, Oculocutaneous, Type Iv

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

71 (show all 21)
# Symbol AA change Variation ID SNP ID
1 SLC45A2 p.Pro58Ala VAR_022710
2 SLC45A2 p.Pro58Ser VAR_022711
3 SLC45A2 p.Asp157Asn VAR_022712 rs121912621
4 SLC45A2 p.Gly188Val VAR_022713
5 SLC45A2 p.Trp202Cys VAR_022714 rs146802593
6 SLC45A2 p.Tyr317Cys VAR_022717
7 SLC45A2 p.Leu361Pro VAR_022718 rs121912619
8 SLC45A2 p.Ala477Thr VAR_022719
9 SLC45A2 p.Ala486Val VAR_022720 rs121912620
10 SLC45A2 p.Met42Ile VAR_067071
11 SLC45A2 p.Gly64Ser VAR_067072
12 SLC45A2 p.Thr302Ser VAR_067073 rs553073635
13 SLC45A2 p.Arg348Cys VAR_067074 rs372465070
14 SLC45A2 p.Leu60Arg VAR_072602 rs925113610
15 SLC45A2 p.Gly110Arg VAR_073166 rs762813061
16 SLC45A2 p.Leu151Pro VAR_073167
17 SLC45A2 p.Asp160His VAR_073168
18 SLC45A2 p.His233Gln VAR_073169
19 SLC45A2 p.Gly349Arg VAR_073170 rs146930801
20 SLC45A2 p.Glu368Lys VAR_073171
21 SLC45A2 p.Phe418Leu VAR_073172 rs144503724

ClinVar genetic disease variations for Albinism, Oculocutaneous, Type Iv:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC45A2 NM_016180.4(SLC45A2): c.856C> T (p.Gln286Ter) single nucleotide variant Pathogenic rs794727511 GRCh37 Chromosome 5, 33963828: 33963828
2 SLC45A2 NM_016180.4(SLC45A2): c.1121delT (p.Phe374Serfs) deletion Pathogenic rs730880271 GRCh38 Chromosome 5, 33951589: 33951589
3 SLC45A2 NM_016180.4(SLC45A2): c.563-1G> A single nucleotide variant Pathogenic rs730880270 GRCh38 Chromosome 5, 33964017: 33964017
4 SLC45A2 NM_016180.4(SLC45A2): c.986delC (p.Thr329Lysfs) deletion Pathogenic rs387906317 GRCh37 Chromosome 5, 33954512: 33954512
5 SLC45A2 NM_016180.4(SLC45A2): c.661_663delTTC (p.Phe221del) deletion Pathogenic rs387906318 GRCh37 Chromosome 5, 33964021: 33964023
6 SLC45A2 NM_016180.4(SLC45A2): c.1457C> T (p.Ala486Val) single nucleotide variant Pathogenic rs121912620 GRCh37 Chromosome 5, 33944889: 33944889
7 SLC45A2 NM_016180.4(SLC45A2): c.469G> A (p.Asp157Asn) single nucleotide variant Pathogenic rs121912621 GRCh37 Chromosome 5, 33982434: 33982434
8 SLC45A2 NM_001012509.3(SLC45A2): c.1273delC (p.Leu425Trpfs) deletion Pathogenic rs759411189 GRCh37 Chromosome 5, 33947363: 33947363
9 SLC45A2 NM_016180.4(SLC45A2): c.578T> G (p.Leu193Arg) single nucleotide variant Likely pathogenic rs797045970 GRCh38 Chromosome 5, 33964001: 33964001
10 SLC45A2 NM_016180.4(SLC45A2): c.1152T> G (p.Tyr384Ter) single nucleotide variant Pathogenic rs886042344 GRCh37 Chromosome 5, 33951663: 33951663
11 SLC45A2 NM_016180.4(SLC45A2): c.834C> G (p.Tyr278Ter) single nucleotide variant Pathogenic rs116887602 GRCh37 Chromosome 5, 33963850: 33963850
12 SLC45A2 NM_016180.4(SLC45A2): c.163dupT (p.Tyr55Leufs) duplication Pathogenic rs1057518722 GRCh37 Chromosome 5, 33984526: 33984526
13 SLC45A2 NM_016180.4(SLC45A2): c.1368+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 5, 33947267: 33947267
14 SLC45A2 NM_016180.4(SLC45A2): c.210C> A (p.Tyr70Ter) single nucleotide variant Pathogenic rs562624441 GRCh37 Chromosome 5, 33984479: 33984479

Expression for Albinism, Oculocutaneous, Type Iv

Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Iv.

Pathways for Albinism, Oculocutaneous, Type Iv

GO Terms for Albinism, Oculocutaneous, Type Iv

Sources for Albinism, Oculocutaneous, Type Iv

3 CDC
7 CNVD
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11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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