OCA4
MCID: ALB019
MIFTS: 47

Albinism, Oculocutaneous, Type Iv (OCA4)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Iv:

Name: Albinism, Oculocutaneous, Type Iv 58 41
Oca4 58 12 25 60 76
Oculocutaneous Albinism Type 4 25 60 30 6
Oculocutaneous Albinism, Type Iv 58 13 74
Oculocutaneous Albinism Type Iv 12 76 15
Albinism, Oculocutaneous, 4 76

Characteristics:

Orphanet epidemiological data:

60
oculocutaneous albinism type 4
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

33
albinism, oculocutaneous, type iv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Albinism, Oculocutaneous, Type Iv

UniProtKB/Swiss-Prot : 76 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 oculocutaneous albinism and albinism. An important gene associated with Albinism, Oculocutaneous, Type Iv is SLC45A2 (Solute Carrier Family 45 Member 2), and among its related pathways/superpathways are Tyrosine metabolism and Melanin biosynthesis. Affiliated tissues include skin and eye, and related phenotypes are strabismus and albinism

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2.

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:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 oculocutaneous albinism 29.8 AP3B1 LRMDA OCA2 SLC24A5 SLC45A2 TYR
2 albinism 29.4 GPR143 LRMDA MITF OCA2 SLC24A5 SLC45A2
3 amelanotic melanoma 10.3 TYR TYRP1
4 acute contagious conjunctivitis 10.2 OCA2 TYR
5 albinism, ocular, with late-onset sensorineural deafness 10.2 MITF TYR
6 albinism, ocular, with sensorineural deafness 10.2 MITF TYR
7 pigmented basal cell carcinoma 10.2 MITF TYR
8 hypomelanosis of ito 10.2 MITF TYR
9 malignant spindle cell melanoma 10.2 MITF TYR
10 alpha-methylacyl-coa racemase deficiency 10.2
11 melanoma 10.2
12 epithelioid cell melanoma 10.2 MITF TYR
13 breast angiosarcoma 10.1 MITF TYR
14 tietz albinism-deafness syndrome 10.1 MITF TYR
15 congenital nystagmus 10.1 GPR143 OCA2 TYR
16 bowenoid papulosis 10.1
17 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 MITF TYR TYRP1
18 dyschromatosis symmetrica hereditaria 10.1 MITF OCA2 TYR
19 dowling-degos disease 1 10.1 MITF TYR TYRP1
20 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 MITF TYR TYRP1
21 pathologic nystagmus 10.0 GPR143 OCA2 SLC45A2 TYR
22 waardenburg syndrome, type 1 10.0 MITF TYR
23 glycogen storage disease ia 10.0 G6PC G6PC3
24 fructose-1,6-bisphosphatase deficiency 10.0 G6PC G6PC3
25 strabismus 10.0 GPR143 SLC24A5 TYR TYRP1
26 angiomyolipoma 9.9 MITF TYR
27 albinism, oculocutaneous, type iii 9.9 LRMDA OCA2 SLC45A2 TYR TYRP1
28 hermansky-pudlak syndrome 9.9 AP3B1 LAMP2 TYR TYRP1
29 hermansky-pudlak syndrome 1 9.9 AP3B1 OCA2 SLC24A5 SLC45A2 TYR
30 mutism 9.8 GJB2 MITF
31 albinism, oculocutaneous, type ib 9.8 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
32 albinism, oculocutaneous, type vii 9.8 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
33 albinism, oculocutaneous, type ia 9.8 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
34 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.8 GJB2 MITF
35 hermansky-pudlak syndrome 3 9.8 DCT MITF TYR TYRP1
36 glycogen storage disease 9.8 G6PC G6PC3 LAMP2
37 albinism, oculocutaneous, type ii 9.7 OCA2 SLC24A4 SLC24A5 SLC45A2 TYR TYRP1
38 microphthalmia 9.7 DCT MITF TYR TYRP1
39 waardenburg syndrome, type 2a 9.6 GJB2 MITF TYR TYRP1
40 waardenburg's syndrome 9.6 GJB2 MITF TYR TYRP1
41 albinism, oculocutaneous, type v 9.6 LRMDA OCA2 SLC24A4 SLC24A5 SLC45A2 TYR
42 ocular albinism 9.6 GPR143 MITF OCA2 SLC45A2 TYR TYRP1
43 deafness, autosomal dominant 6 9.5 GJB2 MITF

Graphical network of the top 20 diseases related to Albinism, Oculocutaneous, Type Iv:



Diseases related to Albinism, Oculocutaneous, Type Iv

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Iv

Human phenotypes related to Albinism, Oculocutaneous, Type Iv:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
2 albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001022
3 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
4 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
5 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
6 thickened skin 60 33 frequent (33%) Frequent (79-30%) HP:0001072
7 iris hypopigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007730
8 abnormality of the optic nerve 60 33 frequent (33%) Frequent (79-30%) HP:0000587
9 melanoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002861
10 squamous cell carcinoma of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0006739
11 hypoplasia of the fovea 60 33 occasional (7.5%) Occasional (29-5%) HP:0007750
12 basal cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002671
13 hypopigmentation of hair 60 33 Very frequent (99-80%) HP:0005599
14 blue irides 33 HP:0000635
15 hypopigmentation of the fundus 33 HP:0007894
16 hypopigmentation of the skin 60 Very frequent (99-80%)
17 macular hypoplasia 33 HP:0001104

Clinical features from OMIM:

606574

MGI Mouse Phenotypes related to Albinism, Oculocutaneous, Type Iv:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 AP3B1 G6PC G6PC3 GJB2 LAMP2 MITF
2 homeostasis/metabolism MP:0005376 10.26 AP3B1 G6PC G6PC3 GJB2 LAMP2 MITF
3 behavior/neurological MP:0005386 10.25 AP3B1 G6PC LAMP2 LRMDA MITF OCA2
4 craniofacial MP:0005382 10.19 AP3B1 GJB2 LAMP2 MITF OCA2 SLC24A4
5 integument MP:0010771 10.13 AP3B1 DCT GJB2 LAMP2 MITF OCA2
6 immune system MP:0005387 10.11 AP3B1 G6PC3 GJB2 LAMP2 LRMDA MITF
7 hematopoietic system MP:0005397 10.1 AP3B1 G6PC3 LAMP2 LRMDA MITF OCA2
8 mortality/aging MP:0010768 10.07 AP3B1 G6PC G6PC3 GJB2 LAMP2 MITF
9 nervous system MP:0003631 10.06 AP3B1 DCT G6PC GJB2 GPR143 LAMP2
10 hearing/vestibular/ear MP:0005377 10.05 AP3B1 GJB2 MITF OCA2 SLC24A5 TYR
11 pigmentation MP:0001186 9.91 AP3B1 DCT GPR143 MITF OCA2 SLC24A5
12 limbs/digits/tail MP:0005371 9.8 AP3B1 GJB2 MITF OCA2 TYR
13 reproductive system MP:0005389 9.76 AP3B1 GJB2 LAMP2 MITF OCA2 SLC45A2
14 skeleton MP:0005390 9.56 G6PC GJB2 LAMP2 MITF OCA2 SLC24A4
15 vision/eye MP:0005391 9.32 AP3B1 DCT GJB2 GPR143 MITF OCA2

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 30 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

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

42
Skin, Eye

Publications for Albinism, Oculocutaneous, Type Iv

Articles related to Albinism, Oculocutaneous, Type Iv:

(show all 12)
# Title Authors Year
1
A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients. ( 30019506 )
2018
2
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
3
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
4
A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping. ( 25296693 )
2014
5
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. ( 22987308 )
2012
6
Functional analysis of OCA4 mutant sequences using under white mouse melanocytes. ( 19220778 )
2009
7
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. ( 18245373 )
2008
8
A Chinese case of oculocutaneous albinism type 4 with two novel mutations. ( 18986462 )
2008
9
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. ( 16965274 )
2006
10
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. ( 14961451 )
2004
11
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. ( 14722913 )
2004
12
Oculocutaneous Albinism Type 4 ( 20301683 )
1993

Variations for Albinism, Oculocutaneous, Type Iv

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

76 (show all 21)
# Symbol AA change Variation ID SNP ID
1 SLC45A2 p.Pro58Ala VAR_022710 rs129058460
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 rs135299911
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 rs760780597
18 SLC45A2 p.His233Gln VAR_073169
19 SLC45A2 p.Gly349Arg VAR_073170 rs146930801
20 SLC45A2 p.Glu368Lys VAR_073171 rs130713718
21 SLC45A2 p.Phe418Leu VAR_073172 rs144503724

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC45A2 NM_001012509.3(SLC45A2): c.1273delC (p.Leu425Trpfs) deletion Pathogenic rs759411189 GRCh37 Chromosome 5, 33947363: 33947363
2 SLC45A2 NM_001012509.3(SLC45A2): c.1273delC (p.Leu425Trpfs) deletion Pathogenic rs759411189 GRCh38 Chromosome 5, 33947258: 33947258
3 SLC45A2 NM_016180.4(SLC45A2): c.578T> G (p.Leu193Arg) single nucleotide variant Likely pathogenic rs797045970 GRCh38 Chromosome 5, 33964001: 33964001
4 SLC45A2 NM_016180.4(SLC45A2): c.578T> G (p.Leu193Arg) single nucleotide variant Likely pathogenic rs797045970 GRCh37 Chromosome 5, 33964106: 33964106
5 SLC45A2 NM_016180.4(SLC45A2): c.563-1G> A single nucleotide variant Pathogenic rs730880270 GRCh38 Chromosome 5, 33964017: 33964017
6 SLC45A2 NM_016180.4(SLC45A2): c.563-1G> A single nucleotide variant Pathogenic rs730880270 GRCh37 Chromosome 5, 33964122: 33964122
7 SLC45A2 NM_016180.4(SLC45A2): c.1082T> C (p.Leu361Pro) single nucleotide variant Uncertain significance rs121912619 GRCh37 Chromosome 5, 33951733: 33951733
8 SLC45A2 NM_016180.4(SLC45A2): c.1082T> C (p.Leu361Pro) single nucleotide variant Uncertain significance rs121912619 GRCh38 Chromosome 5, 33951628: 33951628
9 SLC45A2 NM_016180.4(SLC45A2): c.986delC (p.Thr329Lysfs) deletion Pathogenic rs387906317 GRCh37 Chromosome 5, 33954512: 33954512
10 SLC45A2 NM_016180.4(SLC45A2): c.986delC (p.Thr329Lysfs) deletion Pathogenic rs387906317 GRCh38 Chromosome 5, 33954407: 33954407
11 SLC45A2 NM_016180.4(SLC45A2): c.661_663delTTC (p.Phe221del) deletion Pathogenic rs387906318 GRCh37 Chromosome 5, 33964021: 33964023
12 SLC45A2 NM_016180.4(SLC45A2): c.661_663delTTC (p.Phe221del) deletion Pathogenic rs387906318 GRCh38 Chromosome 5, 33963916: 33963918
13 SLC45A2 NM_016180.4(SLC45A2): c.1457C> T (p.Ala486Val) single nucleotide variant Pathogenic rs121912620 GRCh37 Chromosome 5, 33944889: 33944889
14 SLC45A2 NM_016180.4(SLC45A2): c.1457C> T (p.Ala486Val) single nucleotide variant Pathogenic rs121912620 GRCh38 Chromosome 5, 33944784: 33944784
15 SLC45A2 NM_016180.4(SLC45A2): c.469G> A (p.Asp157Asn) single nucleotide variant Pathogenic rs121912621 GRCh37 Chromosome 5, 33982434: 33982434
16 SLC45A2 NM_016180.4(SLC45A2): c.469G> A (p.Asp157Asn) single nucleotide variant Pathogenic rs121912621 GRCh38 Chromosome 5, 33982329: 33982329
17 SLC45A2 NM_016180.4(SLC45A2): c.1121delT (p.Phe374Serfs) deletion Pathogenic rs730880271 GRCh38 Chromosome 5, 33951589: 33951589
18 SLC45A2 NM_016180.4(SLC45A2): c.1121delT (p.Phe374Serfs) deletion Pathogenic rs730880271 GRCh37 Chromosome 5, 33951694: 33951694
19 SLC45A2 NM_016180.4(SLC45A2): c.1076_1077delAG (p.Glu359Valfs) deletion Conflicting interpretations of pathogenicity rs753485165 GRCh37 Chromosome 5, 33951738: 33951739
20 SLC45A2 NM_016180.4(SLC45A2): c.1076_1077delAG (p.Glu359Valfs) deletion Conflicting interpretations of pathogenicity rs753485165 GRCh38 Chromosome 5, 33951633: 33951634
21 SLC45A2 NM_016180.4(SLC45A2): c.163dupT (p.Tyr55Leufs) duplication Pathogenic rs1057518722 GRCh38 Chromosome 5, 33984421: 33984421
22 SLC45A2 NM_016180.4(SLC45A2): c.163dupT (p.Tyr55Leufs) duplication Pathogenic rs1057518722 GRCh37 Chromosome 5, 33984526: 33984526
23 SLC45A2 NM_016180.4(SLC45A2): c.1368+1G> T single nucleotide variant Pathogenic rs1294369944 GRCh37 Chromosome 5, 33947267: 33947267
24 SLC45A2 NM_016180.4(SLC45A2): c.1368+1G> T single nucleotide variant Pathogenic rs1294369944 GRCh38 Chromosome 5, 33947162: 33947162
25 SLC45A2 NM_016180.4(SLC45A2): c.210C> A (p.Tyr70Ter) single nucleotide variant Pathogenic rs562624441 GRCh37 Chromosome 5, 33984479: 33984479
26 SLC45A2 NM_016180.4(SLC45A2): c.210C> A (p.Tyr70Ter) single nucleotide variant Pathogenic rs562624441 GRCh38 Chromosome 5, 33984374: 33984374

Expression for Albinism, Oculocutaneous, Type Iv

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

Pathways for Albinism, Oculocutaneous, Type Iv

Pathways related to Albinism, Oculocutaneous, Type Iv according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.01 DCT TYR TYRP1
2 9.72 DCT OCA2 SLC45A2 TYR TYRP1

GO Terms for Albinism, Oculocutaneous, Type Iv

Cellular components related to Albinism, Oculocutaneous, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.93 DCT G6PC G6PC3 GJB2 GPR143 LAMP2
2 lysosomal membrane GO:0005765 9.62 AP3B1 GPR143 LAMP2 OCA2
3 endosome membrane GO:0010008 9.54 LAMP2 OCA2 TYRP1
4 melanosome GO:0042470 9.35 DCT GPR143 SLC24A5 TYR TYRP1
5 melanosome membrane GO:0033162 9.1 DCT GPR143 OCA2 SLC45A2 TYR TYRP1
6 membrane GO:0016020 10.07 AP3B1 DCT G6PC G6PC3 GJB2 GPR143

Biological processes related to Albinism, Oculocutaneous, Type Iv according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.81 GJB2 OCA2 SLC24A4 SLC24A5
2 visual perception GO:0007601 9.67 GPR143 SLC45A2 TYR
3 melanosome organization GO:0032438 9.54 AP3B1 GPR143 TYRP1
4 developmental pigmentation GO:0048066 9.5 DCT OCA2 SLC45A2
5 phosphate-containing compound metabolic process GO:0006796 9.48 G6PC G6PC3
6 glucose 6-phosphate metabolic process GO:0051156 9.46 G6PC G6PC3
7 melanocyte differentiation GO:0030318 9.46 LRMDA MITF OCA2 TYRP1
8 glucose-6-phosphate transport GO:0015760 9.43 G6PC G6PC3
9 eye pigment biosynthetic process GO:0006726 9.43 GPR143 OCA2 TYR
10 melanin biosynthetic process from tyrosine GO:0006583 9.4 DCT TYR
11 pigmentation GO:0043473 9.35 DCT MITF OCA2 TYR TYRP1
12 melanin biosynthetic process GO:0042438 9.02 DCT OCA2 SLC45A2 TYR TYRP1

Molecular functions related to Albinism, Oculocutaneous, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium, potassium:sodium antiporter activity GO:0008273 8.96 SLC24A4 SLC24A5
2 glucose-6-phosphatase activity GO:0004346 8.62 G6PC G6PC3

Sources for Albinism, Oculocutaneous, Type Iv

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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