Aliases & Classifications for Ocular Albinism, X-Linked

MalaCards integrated aliases for Ocular Albinism, X-Linked:

Name: Ocular Albinism, X-Linked 24
Ocular Albinism Type 1 24 53
Xloa 24 53
Oa1 24 53
Nettleship-Falls Type Ocular Albinism 53
X-Linked Recessive Ocular Albinism 53
Nettleship-Falls Ocular Albinism 24
X-Linked Ocular Albinism 53
Ocular Albinism, Type I 73

Classifications:



Summaries for Ocular Albinism, X-Linked

NIH Rare Diseases : 53 Ocular albinism type 1 (OA1) is a genetic eye condition that primarily affects males. Signs and symptoms may include reduced coloring of the iris and retina (ocular hypopigmentation); foveal hypoplasia (underdevelopment); rapid, involuntary eye movements (nystagmus); poor vision; poor depth perception; eyes that do not look in the same direction (strabismus); and increased sensitivity to light. It is caused by mutations in the GPR143 gene and is inherited in an X-linked recessive manner. Females have been affected in rare instances. Treatment consists of visual correction with eyeglasses or contact lenses; use of sunglasses or special filter glasses for light sensitivity; and in some cases, extraocular muscle surgery to restore alignment and/or improve head posture that is associated with nystagmus.

MalaCards based summary : Ocular Albinism, X-Linked, also known as ocular albinism type 1, is related to albinism, ocular, type i and orotic aciduria. An important gene associated with Ocular Albinism, X-Linked is GPR143 (G Protein-Coupled Receptor 143). The drugs Naproxen and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related phenotypes are astigmatism and strabismus

GeneReviews: NBK1343

Related Diseases for Ocular Albinism, X-Linked

Diseases related to Ocular Albinism, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 albinism, ocular, type i 12.0
2 orotic aciduria 11.3
3 nystagmus 1, congenital, x-linked 10.9
4 ocular albinism 10.3
5 albinism 10.1

Graphical network of the top 20 diseases related to Ocular Albinism, X-Linked:



Diseases related to Ocular Albinism, X-Linked

Symptoms & Phenotypes for Ocular Albinism, X-Linked

Human phenotypes related to Ocular Albinism, X-Linked:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 astigmatism 32 hallmark (90%) HP:0000483
2 strabismus 32 frequent (33%) HP:0000486
3 visual impairment 32 occasional (7.5%) HP:0000505
4 myopia 32 occasional (7.5%) HP:0000545
5 photophobia 32 hallmark (90%) HP:0000613
6 abnormal pupil morphology 32 hallmark (90%) HP:0000615
7 nystagmus 32 hallmark (90%) HP:0000639
8 ocular albinism 32 hallmark (90%) HP:0001107
9 freckling 32 frequent (33%) HP:0001480
10 giant melanosomes in melanocytes 32 occasional (7.5%) HP:0005592
11 hypoplasia of the fovea 32 frequent (33%) HP:0007750
12 neoplasm of the skin 32 occasional (7.5%) HP:0008069

Drugs & Therapeutics for Ocular Albinism, X-Linked

Drugs for Ocular Albinism, X-Linked (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 Peripheral Nervous System Agents Phase 3,Not Applicable
3 Pharmaceutical Solutions Phase 3,Not Applicable
4 Anti-Inflammatory Agents Phase 3,Not Applicable
5 Analgesics Phase 3
6 Cyclooxygenase Inhibitors Phase 3
7 Analgesics, Non-Narcotic Phase 3
8 Anti-Inflammatory Agents, Non-Steroidal Phase 3
9 Antirheumatic Agents Phase 3
10
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
11
Hyaluronic acid Approved, Vet_approved Not Applicable 9004-61-9 53477741
12
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
13
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
14
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
15
Racepinephrine Approved Not Applicable 329-65-7 838
16 Prednisolone acetate Not Applicable
17 glucocorticoids Not Applicable
18 Methylprednisolone acetate Not Applicable
19 Methylprednisolone Hemisuccinate Not Applicable
20 Adjuvants, Immunologic Not Applicable
21 Gastrointestinal Agents Not Applicable
22 Neuroprotective Agents Not Applicable
23 Hormone Antagonists Not Applicable
24 Hormones Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
26 Viscosupplements Not Applicable
27 Hylan Not Applicable
28 Epinephryl borate Not Applicable
29 Prednisolone hemisuccinate Not Applicable
30 Prednisolone phosphate Not Applicable
31 Antiemetics Not Applicable
32 Protective Agents Not Applicable
33 Autonomic Agents Not Applicable
34 Antineoplastic Agents, Hormonal 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 Ocular Albinism, X-Linked

Genetic Tests for Ocular Albinism, X-Linked

Anatomical Context for Ocular Albinism, X-Linked

MalaCards organs/tissues related to Ocular Albinism, X-Linked:

41
Eye, Retina, Skin

Publications for Ocular Albinism, X-Linked

Articles related to Ocular Albinism, X-Linked:

(show all 28)
# 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
28
Ocular Albinism, X-Linked ( 20301517 )
1993

Variations for Ocular Albinism, X-Linked

Expression for Ocular Albinism, X-Linked

Search GEO for disease gene expression data for Ocular Albinism, X-Linked.

Pathways for Ocular Albinism, X-Linked

GO Terms for Ocular Albinism, X-Linked

Sources for Ocular Albinism, X-Linked

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