OCA4
MCID: ALB019
MIFTS: 32

Albinism, Oculocutaneous, Type Iv (OCA4) malady

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

Aliases & Descriptions for Albinism, Oculocutaneous, Type Iv:

Name: Albinism, Oculocutaneous, Type Iv 54
Oca4 23 24 56 66
Oculocutaneous Albinism Type 4 23 24 56
Oculocutaneous Albinism, Type Iv 13 69
Oculocutaneous Albinism Type Iv 66 29
Albinism, Oculocutaneous, 4 66

Characteristics:

Orphanet epidemiological data:

56
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:



External Ids:

OMIM 54 606574
Orphanet 56 ORPHA79435
ICD10 via Orphanet 34 E70.3
MedGen 40 C1847836
MeSH 42 D016115

Summaries for Albinism, Oculocutaneous, Type Iv

UniProtKB/Swiss-Prot : 66 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, oculocutaneous, type ia 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). The drugs Pravastatin and Erythromycin have been mentioned in the context of this disorder. 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 V Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

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

id Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ia 10.9
2 oculocutaneous albinism 10.4
3 albinism 10.4
4 alpha-methylacyl-coa racemase deficiency 9.9
5 melanoma 9.9

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

Clinical features from OMIM:

606574

Human phenotypes related to Albinism, Oculocutaneous, Type Iv:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Frequent (79-30%) HP:0000613
2 nystagmus 56 32 Frequent (79-30%) HP:0000639
3 visual impairment 56 32 Frequent (79-30%) HP:0000505
4 strabismus 56 32 Very frequent (99-80%) HP:0000486
5 hypopigmentation of hair 56 32 Very frequent (99-80%) HP:0005599
6 thickened skin 56 32 Frequent (79-30%) HP:0001072
7 melanoma 56 32 Occasional (29-5%) HP:0002861
8 iris hypopigmentation 56 32 Frequent (79-30%) HP:0007730
9 squamous cell carcinoma of the skin 56 32 Occasional (29-5%) HP:0006739
10 hypoplasia of the fovea 56 32 Occasional (29-5%) HP:0007750
11 abnormality of the optic nerve 56 32 Frequent (79-30%) HP:0000587
12 basal cell carcinoma 56 32 Occasional (29-5%) HP:0002671
13 albinism 56 32 Very frequent (99-80%) HP:0001022
14 blue irides 32 HP:0000635
15 hypopigmentation of the fundus 32 HP:0007894
16 hypopigmentation of the skin 56 Very frequent (99-80%)
17 macular hypoplasia 32 HP:0001104

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iv

Drugs for Albinism, Oculocutaneous, Type Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
2
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
3
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
4
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
5
Angiotensin II Phase 1, Phase 2 68521-88-0, 11128-99-7 65143 172198
6 Analgesics Phase 1, Phase 2
7 N-monoacetylcystine Phase 1, Phase 2
8 Gastrointestinal Agents Phase 1, Phase 2
9 Analgesics, Non-Narcotic Phase 1, Phase 2
10 Hormone Antagonists Phase 1, Phase 2
11 Hormones Phase 1, Phase 2
12 Peripheral Nervous System Agents Phase 1, Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
14 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
15 Angiotensin Receptor Antagonists Phase 1, Phase 2
16 Angiotensinogen Phase 1, Phase 2
17 Pharmaceutical Solutions Phase 1, Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
19 Erythromycin Estolate Phase 1, Phase 2
20 Erythromycin Ethylsuccinate Phase 1, Phase 2
21 Anti-Arrhythmia Agents Phase 1, Phase 2
22 Erythromycin stearate Phase 1, Phase 2
23 Anti-Bacterial Agents Phase 1, Phase 2
24 Hypolipidemic Agents Phase 1, Phase 2
25 Expectorants Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Anticholesteremic Agents Phase 1, Phase 2
28 Protective Agents Phase 1, Phase 2
29 Antidotes Phase 1, Phase 2
30 Anti-Inflammatory Agents Phase 1, Phase 2
31 Antihypertensive Agents Phase 1, Phase 2
32 Leukotriene Antagonists Phase 1, Phase 2
33 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
34 Lipid Regulating Agents Phase 1, Phase 2
35 Antimetabolites Phase 1, Phase 2
36 Lipoxygenase Inhibitors Phase 1, Phase 2
37 Respiratory System Agents Phase 1, Phase 2
38 Antirheumatic Agents Phase 1, Phase 2
39 Antiviral Agents Phase 1, Phase 2
40 Antioxidants Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Iv

Genetic Tests for Albinism, Oculocutaneous, Type Iv

Genetic tests related to Albinism, Oculocutaneous, Type Iv:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 4 29 24 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

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

39
Skin, Eye

Publications for Albinism, Oculocutaneous, Type Iv

Variations for Albinism, Oculocutaneous, Type Iv

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

66 (show all 21)
id 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 rs28939380
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
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 12)
id 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.986delC (p.Thr329Lysfs) deletion Pathogenic rs387906317 GRCh37 Chromosome 5, 33954512: 33954512
3 SLC45A2 NM_016180.4(SLC45A2): c.661_663delTTC (p.Phe221del) deletion Pathogenic rs387906318 GRCh37 Chromosome 5, 33964021: 33964023
4 SLC45A2 NM_016180.4(SLC45A2): c.1457C> T (p.Ala486Val) single nucleotide variant Pathogenic rs121912620 GRCh37 Chromosome 5, 33944889: 33944889
5 SLC45A2 NM_016180.4(SLC45A2): c.469G> A (p.Asp157Asn) single nucleotide variant Pathogenic rs121912621 GRCh37 Chromosome 5, 33982434: 33982434
6 SLC45A2 NM_016180.4(SLC45A2): c.1121delT (p.Phe374Serfs) deletion Pathogenic rs730880271 GRCh38 Chromosome 5, 33951589: 33951589
7 SLC45A2 NM_016180.4(SLC45A2): c.856C> T (p.Gln286Ter) single nucleotide variant Pathogenic rs794727511 GRCh37 Chromosome 5, 33963828: 33963828
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

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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70 UMLS via Orphanet
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