OA1
MCID: ALB024
MIFTS: 41

Albinism, Ocular, Type I (OA1)

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

Aliases & Classifications for Albinism, Ocular, Type I

MalaCards integrated aliases for Albinism, Ocular, Type I:

Name: Albinism, Ocular, Type I 58 41
Ocular Albinism, Type I 30 6 74
Oa1 58 60 76
Ocular Albinism, Type I, Nettleship-Falls Type 58 13
Nettleship-Falls Type Ocular Albinism 58 76
Ocular Albinism, Nettleship-Falls Type 60
X-Linked Recessive Ocular Albinism 60
Ocular Albinism Type 1 60
Albinism Ocular 1 76
Xloa 60
Oa-1 76

Characteristics:

Orphanet epidemiological data:

60
x-linked recessive ocular albinism
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Denmark); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked


HPO:

33
albinism, ocular, type i:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 300500
MeSH 45 D016117
MESH via Orphanet 46 C537863
ICD10 via Orphanet 35 E70.3
UMLS via Orphanet 75 C0342684
Orphanet 60 ORPHA54
MedGen 43 C0342684
UMLS 74 C0342684

Summaries for Albinism, Ocular, Type I

OMIM : 58 Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009). (300500)

MalaCards based summary : Albinism, Ocular, Type I, also known as ocular albinism, type i, is related to ocular albinism, x-linked and orotic aciduria. An important gene associated with Albinism, Ocular, Type I is GPR143 (G Protein-Coupled Receptor 143). The drugs Naproxen and Fasinumab have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are nystagmus and photophobia

UniProtKB/Swiss-Prot : 76 Albinism ocular 1: Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.

Wikipedia : 77 Ocular albinism type 1 (OA1), is the most common type of ocular albinism, with a prevalence rate of... more...

Related Diseases for Albinism, Ocular, Type I

Diseases in the Ocular Albinism family:

Albinism, Ocular, Type I

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 ocular albinism, x-linked 12.0
2 orotic aciduria 11.4
3 albinism, oculocutaneous, type ib 11.2
4 nystagmus 1, congenital, x-linked 11.1
5 albinism 10.8
6 ocular albinism 10.8
7 pathologic nystagmus 10.3
8 microphthalmia 10.2
9 congenital nystagmus 10.2
10 chromosome xp deletion 10.2
11 melanoma 10.0

Graphical network of the top 20 diseases related to Albinism, Ocular, Type I:



Diseases related to Albinism, Ocular, Type I

Symptoms & Phenotypes for Albinism, Ocular, Type I

Human phenotypes related to Albinism, Ocular, Type I:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
3 ocular albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001107
4 astigmatism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000483
5 abnormal pupil morphology 33 hallmark (90%) HP:0000615
6 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
7 freckling 60 33 frequent (33%) Frequent (79-30%) HP:0001480
8 hypoplasia of the fovea 60 33 frequent (33%) Frequent (79-30%) HP:0007750
9 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
10 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
11 neoplasm of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0008069
12 giant melanosomes in melanocytes 60 33 occasional (7.5%) Occasional (29-5%) HP:0005592
13 abnormality of the macula 60 Frequent (79-30%)
14 abnormality of the pupil 60 Very frequent (99-80%)
15 nystagmus-induced head nodding 33 HP:0001361
16 iris hypopigmentation 60 Very frequent (99-80%)
17 depigmented fundus 33 HP:0007680

Symptoms via clinical synopsis from OMIM:

58
Eyes:
nystagmus
photophobia
impaired vision
albino pupillary reflex
depigmented fundus
more
Skin:
normal pigmentation

Lab:
macromelanosomes on em

Head:
head nodding

Misc:
mosaic fundal pigmentation in carrier females

Clinical features from OMIM:

300500

Drugs & Therapeutics for Albinism, Ocular, Type I

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Naproxen Approved, Vet_approved Phase 3 22204-53-1 156391 1302
2 Fasinumab Investigational Phase 3 1190239-42-9
3 Pharmaceutical Solutions Phase 3,Not Applicable
4 Peripheral Nervous System Agents Phase 3,Not Applicable
5 Anti-Inflammatory Agents Phase 3,Not Applicable
6 Analgesics Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 3
8 Analgesics, Non-Narcotic Phase 3
9 Cyclooxygenase Inhibitors Phase 3
10 Antirheumatic Agents Phase 3
11
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
12
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
13
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
14
Racepinephrine Approved Not Applicable 329-65-7 838
15
Hyaluronic acid Approved, Vet_approved Not Applicable 9004-61-9 53477741
16
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
17
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
18
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
19
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
20 Antineoplastic Agents, Hormonal Not Applicable
21 Adjuvants, Immunologic Not Applicable
22 Hormone Antagonists Not Applicable
23 Antiemetics Not Applicable
24 Hylan Not Applicable
25 Hormones Not Applicable
26 Epinephryl borate Not Applicable
27 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
28 Gastrointestinal Agents Not Applicable
29 glucocorticoids Not Applicable
30 Autonomic Agents Not Applicable
31 Immunologic Factors Not Applicable
32 Methylprednisolone Acetate Not Applicable
33 Viscosupplements Not Applicable
34 Protective Agents Not Applicable
35 Neuroprotective Agents Not Applicable
36 Prednisolone acetate Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Determine the Safety and the Efficacy of Fasinumab Compared to Placebo and Naproxen for Treatment of Adults With Pain From Osteoarthritis of the Knee or Hip Recruiting NCT03161093 Phase 3 Fasinumab;Naproxen;Fasinumab-matching placebo;Naproxen-matching placebo
2 Dose-escalation of Cellistem-OA in Patients With Knee Osteoarthritis Recruiting NCT03810521 Phase 1
3 Influence of Oxidative Dysbalance on Secondary Osteoarthritis Unknown status NCT01228487
4 A Study Comparing Viscosupplementation and Corticosteroid Injections for Knee Osteoarthritis Unknown status NCT01132677 Not Applicable Methylprednisolone (Corticosteroid)
5 Exposure to Potential Cytochrome P450 Pharmacokinetic Drug-Drug Interactions Among Osteoarthritis Patients: Incremental Risk of Multiple Prescriptions Completed NCT01177254
6 Multimodal Assessment of Knee Conditions Completed NCT02937064
7 Cohort Study to Evaluate Ovarian Function Recruiting NCT02294500

Search NIH Clinical Center for Albinism, Ocular, Type I

Genetic Tests for Albinism, Ocular, Type I

Genetic tests related to Albinism, Ocular, Type I:

# Genetic test Affiliating Genes
1 Ocular Albinism, Type I 30 GPR143

Anatomical Context for Albinism, Ocular, Type I

MalaCards organs/tissues related to Albinism, Ocular, Type I:

42
Skin, Eye, Testes, T Cells, Bone

Publications for Albinism, Ocular, Type I

Articles related to Albinism, Ocular, Type I:

(show top 50) (show all 78)
# Title Authors Year
1
Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143. ( 30513407 )
2018
2
Cathelicidin-OA1, a novel antioxidant peptide identified from an amphibian, accelerates skin wound healing. ( 29343843 )
2018
3
Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence. ( 29847651 )
2018
4
Author Correction: Cathelicidin-OA1, a novel antioxidant peptide identified from an amphibian, accelerates skin wound healing. ( 30349056 )
2018
5
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
6
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
7
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
8
A Novel Acetaldehyde Dehydrogenase with Salicylaldehyde Dehydrogenase Activity from Rhodococcus ruber Strain OA1. ( 28849423 )
2017
9
Albinism in a patient with mutations at both the OA1 and OCA3 loci. ( 26247803 )
2016
10
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
11
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
12
Roles of OA1 octopamine receptor and Dop1 dopamine receptor in mediating appetitive and aversive reinforcement revealed by RNAi studies. ( 27412401 )
2016
13
Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. ( 25601010 )
2015
14
Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL. ( 25690007 )
2015
15
OA1 There's plenty of talk about advance care planning but should women be listening? ( 25960449 )
2015
16
Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. ( 24736838 )
2014
17
Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression. ( 24650003 )
2014
18
Expression of OA1 limits the fusion of a subset of MVBs with lysosomes - a mechanism potentially involved in the initial biogenesis of melanosomes. ( 24006264 )
2013
19
A constitutively active Gαi3 protein corrects the abnormal retinal pigment epithelium phenotype of Oa1-/- mice. ( 24098784 )
2013
20
Structural insights into human GPCR protein OA1: a computational perspective. ( 21938455 )
2012
21
Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. ( 22984402 )
2012
22
A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome. ( 23091330 )
2012
23
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137 )
2011
24
Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium. ( 21931697 )
2011
25
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. ( 20649618 )
2010
26
Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular. ( 19320034 )
2009
27
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. ( 19610097 )
2009
28
The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition. ( 19717472 )
2009
29
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 18697795 )
2008
30
Retinal function in X-linked ocular albinism (OA1). ( 18798082 )
2008
31
Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation. ( 18378571 )
2008
32
L-DOPA is an endogenous ligand for OA1. ( 18828673 )
2008
33
New mutations identified in the ocular albinism type 1 gene. ( 17822861 )
2007
34
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. ( 17920058 )
2007
35
A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males. ( 17163525 )
2007
36
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. ( 16550551 )
2006
37
Eight previously unidentified mutations found in the OA1 ocular albinism gene. ( 16646960 )
2006
38
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. ( 16754205 )
2006
39
The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. ( 16524428 )
2006
40
An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1. ( 16621890 )
2006
41
Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. ( 15965158 )
2005
42
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. ( 16029416 )
2005
43
The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. ( 16303920 )
2005
44
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. ( 15254223 )
2004
45
Mutational analysis of the OA1 gene in ocular albinism. ( 12868035 )
2003
46
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. ( 12515581 )
2003
47
Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1. ( 12538723 )
2003
48
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. ( 11793467 )
2002
49
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. ( 12180081 )
2002
50
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. ( 11214907 )
2001

Variations for Albinism, Ocular, Type I

UniProtKB/Swiss-Prot genetic disease variations for Albinism, Ocular, Type I:

76 (show all 33)
# Symbol AA change Variation ID SNP ID
1 GPR143 p.Gly35Asp VAR_005507 rs62635018
2 GPR143 p.Gly84Asp VAR_005508 rs62635027
3 GPR143 p.Gly84Arg VAR_005509 rs62635026
4 GPR143 p.Cys116Arg VAR_005510 rs62635030
5 GPR143 p.Gly118Glu VAR_005511 rs62635031
6 GPR143 p.Trp133Arg VAR_005513 rs137852296
7 GPR143 p.Ala138Val VAR_005514 rs62635762
8 GPR143 p.Ser152Asn VAR_005515 rs58933950
9 GPR143 p.Ala173Asp VAR_005516 rs62635035
10 GPR143 p.Thr232Lys VAR_005517 rs137852297
11 GPR143 p.Glu235Lys VAR_005518
12 GPR143 p.Trp292Gly VAR_005520 rs62635045
13 GPR143 p.Arg5Cys VAR_018130 rs62635289
14 GPR143 p.Leu39Arg VAR_018131 rs62635019
15 GPR143 p.Asp78Asn VAR_018132 rs62635024
16 GPR143 p.Asp78Val VAR_018133 rs62635025
17 GPR143 p.Cys116Ser VAR_018134 rs62635029
18 GPR143 p.Gln124Arg VAR_018135 rs62635032
19 GPR143 p.Gly229Val VAR_018136 rs62635037
20 GPR143 p.Glu233Lys VAR_018137 rs62635038
21 GPR143 p.Ile244Val VAR_018138 rs62635040
22 GPR143 p.Ile261Asn VAR_018139
23 GPR143 p.Glu271Gly VAR_018140 rs62635043
24 GPR143 p.Trp292Cys VAR_018141 rs62635046
25 GPR143 p.Gly81Val VAR_063265
26 GPR143 p.Cys116Gly VAR_063267
27 GPR143 p.Cys116Trp VAR_063268
28 GPR143 p.Trp132Arg VAR_063269
29 GPR143 p.Leu134Pro VAR_063270
30 GPR143 p.Thr166Asn VAR_063271
31 GPR143 p.Glu185Lys VAR_063272
32 GPR143 p.Arg186Pro VAR_063273
33 GPR143 p.Arg186Trp VAR_063274 rs199899645

ClinVar genetic disease variations for Albinism, Ocular, Type I:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPR143 GPR143, 2-BP INS, NT992 insertion Pathogenic
2 GPR143 GPR143, 17-BP DEL deletion Pathogenic
3 GPR143 NM_000273.2(GPR143): c.397T> C (p.Trp133Arg) single nucleotide variant Pathogenic rs137852296 GRCh37 Chromosome X, 9727430: 9727430
4 GPR143 NM_000273.2(GPR143): c.397T> C (p.Trp133Arg) single nucleotide variant Pathogenic rs137852296 GRCh38 Chromosome X, 9759390: 9759390
5 GPR143 NM_000273.2(GPR143): c.455G> A (p.Ser152Asn) single nucleotide variant Pathogenic rs58933950 GRCh37 Chromosome X, 9727372: 9727372
6 GPR143 NM_000273.2(GPR143): c.455G> A (p.Ser152Asn) single nucleotide variant Pathogenic rs58933950 GRCh38 Chromosome X, 9759332: 9759332
7 GPR143 NM_000273.2(GPR143): c.695C> A (p.Thr232Lys) single nucleotide variant Pathogenic rs137852297 GRCh37 Chromosome X, 9711677: 9711677
8 GPR143 NM_000273.2(GPR143): c.695C> A (p.Thr232Lys) single nucleotide variant Pathogenic rs137852297 GRCh38 Chromosome X, 9743637: 9743637
9 GPR143 NM_000273.2(GPR143): c.397T> A (p.Trp133Arg) single nucleotide variant Pathogenic rs137852296 GRCh37 Chromosome X, 9727430: 9727430
10 GPR143 NM_000273.2(GPR143): c.397T> A (p.Trp133Arg) single nucleotide variant Pathogenic rs137852296 GRCh38 Chromosome X, 9759390: 9759390
11 GPR143 GPR143, 420G-A single nucleotide variant Pathogenic
12 GPR143 NM_000273.2(GPR143): c.104G> A (p.Gly35Asp) single nucleotide variant Pathogenic rs62635018 GRCh37 Chromosome X, 9733754: 9733754
13 GPR143 NM_000273.2(GPR143): c.104G> A (p.Gly35Asp) single nucleotide variant Pathogenic rs62635018 GRCh38 Chromosome X, 9765714: 9765714
14 GPR143 GPR143, 14-BP DEL, NT816 deletion Pathogenic
15 GPR143 NC_000023.9: g.9688757-?_9693917+?del deletion Pathogenic NCBI36 Chromosome X, 9688757: 9688757
16 GPR143 NM_000273.2(GPR143): c.223dupG (p.Ala75Glyfs) duplication Likely pathogenic rs672601353 GRCh37 Chromosome X, 9733635: 9733635
17 GPR143 NM_000273.2(GPR143): c.223dupG (p.Ala75Glyfs) duplication Likely pathogenic rs672601353 GRCh38 Chromosome X, 9765595: 9765595

Expression for Albinism, Ocular, Type I

Search GEO for disease gene expression data for Albinism, Ocular, Type I.

Pathways for Albinism, Ocular, Type I

GO Terms for Albinism, Ocular, Type I

Sources for Albinism, Ocular, Type I

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