MCID: ALB019
MIFTS: 29

Albinism, Oculocutaneous, Type Iv

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Iv:

Name: Albinism, Oculocutaneous, Type Iv 57 40
Oca4 57 12 24 59 75
Oculocutaneous Albinism Type 4 24 59 29 6
Oculocutaneous Albinism, Type Iv 57 13 73
Oculocutaneous Albinism Type Iv 12 75
Albinism, Oculocutaneous, 4 75

Characteristics:

Orphanet epidemiological data:

59
oculocutaneous albinism type 4
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
albinism, oculocutaneous, type iv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Albinism, Oculocutaneous, Type Iv

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Albinism, Oculocutaneous, Type Iv is SLC45A2 (Solute Carrier Family 45 Member 2). Affiliated tissues include skin and eye, and related phenotypes are strabismus and visual impairment

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:

# 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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
2 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
3 abnormality of the optic nerve 59 32 frequent (33%) Frequent (79-30%) HP:0000587
4 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
5 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
6 albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001022
7 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
8 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
9 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
10 hypopigmentation of hair 59 32 Very frequent (99-80%) HP:0005599
11 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
12 iris hypopigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007730
13 hypoplasia of the fovea 59 32 occasional (7.5%) Occasional (29-5%) HP:0007750
14 hypopigmentation of the skin 59 Very frequent (99-80%)
15 blue irides 32 HP:0000635
16 macular hypoplasia 32 HP:0001104
17 hypopigmentation of the fundus 32 HP:0007894

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 29 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

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

41
Skin, Eye

Publications for Albinism, Oculocutaneous, Type Iv

Articles related to Albinism, Oculocutaneous, Type Iv:

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

Variations for Albinism, Oculocutaneous, Type Iv

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

75 (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 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC45A2 NM_016180.4(SLC45A2): c.563-1G> A single nucleotide variant Pathogenic rs730880270 GRCh38 Chromosome 5, 33964017: 33964017
2 SLC45A2 NM_016180.4(SLC45A2): c.563-1G> A single nucleotide variant Pathogenic rs730880270 GRCh37 Chromosome 5, 33964122: 33964122
3 SLC45A2 NM_016180.4(SLC45A2): c.986delC (p.Thr329Lysfs) deletion Pathogenic rs387906317 GRCh37 Chromosome 5, 33954512: 33954512
4 SLC45A2 NM_016180.4(SLC45A2): c.986delC (p.Thr329Lysfs) deletion Pathogenic rs387906317 GRCh38 Chromosome 5, 33954407: 33954407
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.661_663delTTC (p.Phe221del) deletion Pathogenic rs387906318 GRCh38 Chromosome 5, 33963916: 33963918
7 SLC45A2 NM_016180.4(SLC45A2): c.1457C> T (p.Ala486Val) single nucleotide variant Pathogenic rs121912620 GRCh37 Chromosome 5, 33944889: 33944889
8 SLC45A2 NM_016180.4(SLC45A2): c.1457C> T (p.Ala486Val) single nucleotide variant Pathogenic rs121912620 GRCh38 Chromosome 5, 33944784: 33944784
9 SLC45A2 NM_016180.4(SLC45A2): c.469G> A (p.Asp157Asn) single nucleotide variant Pathogenic rs121912621 GRCh37 Chromosome 5, 33982434: 33982434
10 SLC45A2 NM_016180.4(SLC45A2): c.469G> A (p.Asp157Asn) single nucleotide variant Pathogenic rs121912621 GRCh38 Chromosome 5, 33982329: 33982329
11 SLC45A2 NM_016180.4(SLC45A2): c.1121delT (p.Phe374Serfs) deletion Pathogenic rs730880271 GRCh38 Chromosome 5, 33951589: 33951589
12 SLC45A2 NM_016180.4(SLC45A2): c.1121delT (p.Phe374Serfs) deletion Pathogenic rs730880271 GRCh37 Chromosome 5, 33951694: 33951694
13 SLC45A2 NM_016180.4(SLC45A2): c.856C> T (p.Gln286Ter) single nucleotide variant Pathogenic rs794727511 GRCh37 Chromosome 5, 33963828: 33963828
14 SLC45A2 NM_016180.4(SLC45A2): c.856C> T (p.Gln286Ter) single nucleotide variant Pathogenic rs794727511 GRCh38 Chromosome 5, 33963723: 33963723
15 SLC45A2 NM_001012509.3(SLC45A2): c.1273delC (p.Leu425Trpfs) deletion Pathogenic rs759411189 GRCh37 Chromosome 5, 33947363: 33947363
16 SLC45A2 NM_001012509.3(SLC45A2): c.1273delC (p.Leu425Trpfs) deletion Pathogenic rs759411189 GRCh38 Chromosome 5, 33947258: 33947258
17 SLC45A2 NM_016180.4(SLC45A2): c.578T> G (p.Leu193Arg) single nucleotide variant Likely pathogenic rs797045970 GRCh38 Chromosome 5, 33964001: 33964001
18 SLC45A2 NM_016180.4(SLC45A2): c.578T> G (p.Leu193Arg) single nucleotide variant Likely pathogenic rs797045970 GRCh37 Chromosome 5, 33964106: 33964106
19 SLC45A2 NM_016180.4(SLC45A2): c.1454T> C (p.Leu485Pro) single nucleotide variant no interpretation for the single variant rs749544685 GRCh38 Chromosome 5, 33944787: 33944787
20 SLC45A2 NM_016180.4(SLC45A2): c.1454T> C (p.Leu485Pro) single nucleotide variant no interpretation for the single variant rs749544685 GRCh37 Chromosome 5, 33944892: 33944892
21 SLC45A2 NM_016180.4(SLC45A2): c.264delC (p.Gly89Aspfs) deletion no interpretation for the single variant rs775387808 GRCh38 Chromosome 5, 33984320: 33984320
22 SLC45A2 NM_016180.4(SLC45A2): c.264delC (p.Gly89Aspfs) deletion no interpretation for the single variant rs775387808 GRCh37 Chromosome 5, 33984425: 33984425
23 SLC45A2 NM_016180.4(SLC45A2): c.1152T> G (p.Tyr384Ter) single nucleotide variant Pathogenic rs886042344 GRCh37 Chromosome 5, 33951663: 33951663
24 SLC45A2 NM_016180.4(SLC45A2): c.1152T> G (p.Tyr384Ter) single nucleotide variant Pathogenic rs886042344 GRCh38 Chromosome 5, 33951558: 33951558
25 SLC45A2 NM_016180.4(SLC45A2): c.834C> G (p.Tyr278Ter) single nucleotide variant Pathogenic rs116887602 GRCh37 Chromosome 5, 33963850: 33963850
26 SLC45A2 NM_016180.4(SLC45A2): c.834C> G (p.Tyr278Ter) single nucleotide variant Pathogenic rs116887602 GRCh38 Chromosome 5, 33963745: 33963745
27 SLC45A2 NM_016180.4(SLC45A2): c.1076_1077delAG (p.Glu359Valfs) deletion Conflicting interpretations of pathogenicity rs753485165 GRCh37 Chromosome 5, 33951738: 33951739
28 SLC45A2 NM_016180.4(SLC45A2): c.1076_1077delAG (p.Glu359Valfs) deletion Conflicting interpretations of pathogenicity rs753485165 GRCh38 Chromosome 5, 33951633: 33951634
29 SLC45A2 NM_016180.4(SLC45A2): c.163dupT (p.Tyr55Leufs) duplication Pathogenic rs1057518722 GRCh38 Chromosome 5, 33984421: 33984421
30 SLC45A2 NM_016180.4(SLC45A2): c.163dupT (p.Tyr55Leufs) duplication Pathogenic rs1057518722 GRCh37 Chromosome 5, 33984526: 33984526
31 SLC45A2 NM_016180.4(SLC45A2): c.1368+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 5, 33947267: 33947267
32 SLC45A2 NM_016180.4(SLC45A2): c.1368+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 5, 33947162: 33947162
33 SLC45A2 NM_016180.4(SLC45A2): c.210C> A (p.Tyr70Ter) single nucleotide variant Pathogenic rs562624441 GRCh37 Chromosome 5, 33984479: 33984479
34 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

GO Terms for Albinism, Oculocutaneous, Type Iv

Sources for Albinism, Oculocutaneous, Type Iv

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