MCID: ALB024
MIFTS: 38

Albinism, Ocular, Type I

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

Aliases & Classifications for Albinism, Ocular, Type I

MalaCards integrated aliases for Albinism, Ocular, Type I:

Name: Albinism, Ocular, Type I 57 40
Ocular Albinism, Type I 29 6 73
Oa1 57 59 75
Ocular Albinism, Type I, Nettleship-Falls Type 57 13
Nettleship-Falls Type Ocular Albinism 57 75
Ocular Albinism, Nettleship-Falls Type 59
X-Linked Recessive Ocular Albinism 59
Ocular Albinism Type 1 59
Albinism Ocular 1 75
Albinism, Ocular 44
Xloa 59
Oa-1 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
x-linked


HPO:

32
albinism, ocular, type i:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300500
Orphanet 59 ORPHA54
MESH via Orphanet 45 C537863
UMLS via Orphanet 74 C0342684
ICD10 via Orphanet 34 E70.3
MedGen 42 C0342684
MeSH 44 D016117
UMLS 73 C0342684

Summaries for Albinism, Ocular, Type I

OMIM : 57 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 albinism, ocular, with sensorineural deafness and albinism, ocular, with late-onset sensorineural deafness. An important gene associated with Albinism, Ocular, Type I is GPR143 (G Protein-Coupled Receptor 143). The drugs Naproxen and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are visual impairment and photophobia

UniProtKB/Swiss-Prot : 75 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.

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 14)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with sensorineural deafness 12.2
2 albinism, ocular, with late-onset sensorineural deafness 12.1
3 ocular albinism, x-linked 11.8
4 orotic aciduria 11.3
5 nystagmus 1, congenital, x-linked 10.9
6 albinism 10.6
7 ocular albinism 10.6
8 retinitis 10.1
9 microphthalmia 10.0
10 congenital nystagmus 10.0
11 melanoma 9.8
12 neuronitis 9.8
13 chromosome xp deletion 9.8
14 depression 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Albinism, Ocular, Type I:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 Occasional (29-5%) HP:0000505
2 photophobia 59 32 Very frequent (99-80%) HP:0000613
3 ocular albinism 59 32 Very frequent (99-80%) HP:0001107
4 giant melanosomes in melanocytes 59 32 Occasional (29-5%) HP:0005592
5 nystagmus 59 Very frequent (99-80%)
6 strabismus 59 Frequent (79-30%)
7 myopia 59 Occasional (29-5%)
8 abnormality of the macula 59 Frequent (79-30%)
9 abnormality of the pupil 59 Very frequent (99-80%)
10 neoplasm of the skin 59 Occasional (29-5%)
11 nystagmus-induced head nodding 32 HP:0001361
12 iris hypopigmentation 59 Very frequent (99-80%)
13 astigmatism 59 Very frequent (99-80%)
14 freckling 59 Frequent (79-30%)
15 hypoplasia of the fovea 59 Frequent (79-30%)
16 depigmented fundus 32 HP:0007680

Drugs & Therapeutics for Albinism, Ocular, Type I

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Naproxen Approved, Vet_approved Phase 3 22204-53-1 1302 156391
2 Anti-Inflammatory Agents Phase 3,Not Applicable
3 Peripheral Nervous System Agents Phase 3,Not Applicable
4 Pharmaceutical Solutions Phase 3,Not Applicable
5 Analgesics Phase 3
6 Analgesics, Non-Narcotic Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 3
8 Antirheumatic Agents Phase 3
9 Cyclooxygenase Inhibitors Phase 3
10
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
11
Hyaluronic acid Approved, Vet_approved Not Applicable 9004-61-9 53477741
12
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
13
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
14
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
15
Racepinephrine Approved Not Applicable 329-65-7 838
16 Adjuvants, Immunologic Not Applicable
17 Antiemetics Not Applicable
18 Antineoplastic Agents, Hormonal Not Applicable
19 Autonomic Agents Not Applicable
20 Epinephryl borate Not Applicable
21 Gastrointestinal Agents Not Applicable
22 glucocorticoids Not Applicable
23 Hormone Antagonists Not Applicable
24 Hormones Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
26 Hylan Not Applicable
27 Methylprednisolone acetate Not Applicable
28 Methylprednisolone Hemisuccinate Not Applicable
29 Neuroprotective Agents Not Applicable
30 Prednisolone acetate Not Applicable
31 Prednisolone hemisuccinate Not Applicable
32 Prednisolone phosphate Not Applicable
33 Protective Agents Not Applicable
34 Viscosupplements 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 Influence of Oxidative Dysbalance on Secondary Osteoarthritis Unknown status NCT01228487
3 A Study Comparing Viscosupplementation and Corticosteroid Injections for Knee Osteoarthritis Unknown status NCT01132677 Not Applicable Methylprednisolone (Corticosteroid)
4 Exposure to Potential Cytochrome P450 Pharmacokinetic Drug-Drug Interactions Among Osteoarthritis Patients: Incremental Risk of Multiple Prescriptions Completed NCT01177254
5 Multimodal Assessment of Knee Conditions Completed NCT02937064
6 Cohort Study to Evaluate Ovarian Function Recruiting NCT02294500

Search NIH Clinical Center for Albinism, Ocular, Type I

Cochrane evidence based reviews: albinism, ocular

Genetic Tests for Albinism, Ocular, Type I

Genetic tests related to Albinism, Ocular, Type I:

# Genetic test Affiliating Genes
1 Ocular Albinism, Type I 29 GPR143

Anatomical Context for Albinism, Ocular, Type I

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

41
Skin, Eye

Publications for Albinism, Ocular, Type I

Articles related to Albinism, Ocular, Type I:

(show all 27)
# Title Authors Year
1
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
2
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
3
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
4
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
5
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
6
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137 )
2011
7
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
8
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. ( 18697795 )
2008
9
New mutations identified in the ocular albinism type 1 gene. ( 17822861 )
2007
10
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. ( 17920058 )
2007
11
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. ( 16550551 )
2006
12
The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. ( 16303920 )
2005
13
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. ( 16029416 )
2005
14
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. ( 15254223 )
2004
15
New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. ( 11793467 )
2002
16
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. ( 11214907 )
2001
17
Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis. ( 11260525 )
2001
18
The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution. ( 11775061 )
2001
19
Ocular albinism type 1: more than meets the eye. ( 11549106 )
2001
20
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. ( 11092754 )
2000
21
Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. ( 11095635 )
2000
22
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. ( 11115845 )
2000
23
Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. ( 9848314 )
1998
24
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. ( 8799153 )
1996
25
Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. ( 8889556 )
1996
26
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. ( 7795590 )
1995
27
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. ( 7647783 )
1995

Variations for Albinism, Ocular, Type I

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

75 (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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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