OA1
MCID: OCL016
MIFTS: 24

Ocular Albinism, X-Linked (OA1)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Ocular Albinism, X-Linked

MalaCards integrated aliases for Ocular Albinism, X-Linked:

Name: Ocular Albinism, X-Linked 25
Ocular Albinism Type 1 25 54
Xloa 25 54
Oa1 25 54
Nettleship-Falls Type Ocular Albinism 54
X-Linked Recessive Ocular Albinism 54
Nettleship-Falls Ocular Albinism 25
X-Linked Ocular Albinism 54
Ocular Albinism, Type I 74

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

UMLS 74 C0342684

Summaries for Ocular Albinism, X-Linked

NIH Rare Diseases : 54 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 Fasinumab have been mentioned in the context of this disorder. Affiliated tissues include eye and retina.

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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, type i 12.2
2 orotic aciduria 11.4
3 albinism, oculocutaneous, type ib 11.2
4 nystagmus 1, congenital, x-linked 11.1
5 ocular albinism 10.4
6 microphthalmia 10.2
7 congenital nystagmus 10.2
8 albinism, ocular, with sensorineural deafness 10.1
9 diabetes mellitus 10.1
10 dyskeratosis congenita 10.1
11 kallmann syndrome 10.1
12 albinism 10.1
13 melanoma 10.0
14 chromosome xp deletion 10.0

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

Drugs & Therapeutics for Ocular Albinism, X-Linked

Drugs for Ocular Albinism, X-Linked (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 Peripheral Nervous System Agents Phase 3,Not Applicable
4 Anti-Inflammatory Agents Phase 3,Not Applicable
5 Pharmaceutical Solutions Phase 3,Not Applicable
6 Cyclooxygenase Inhibitors Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 3
8 Analgesics Phase 3
9 Antirheumatic Agents Phase 3
10 Analgesics, Non-Narcotic Phase 3
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
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
15
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
16
Racepinephrine Approved Not Applicable 329-65-7 838
17
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
18
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
19
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
20 Protective Agents Not Applicable
21 glucocorticoids Not Applicable
22 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
23 Gastrointestinal Agents Not Applicable
24 Neuroprotective Agents Not Applicable
25 Antiemetics Not Applicable
26 Methylprednisolone Acetate Not Applicable
27 Antineoplastic Agents, Hormonal Not Applicable
28 Epinephryl borate Not Applicable
29 Hormone Antagonists Not Applicable
30 Immunologic Factors Not Applicable
31 Adjuvants, Immunologic Not Applicable
32 Hormones Not Applicable
33 Autonomic Agents Not Applicable
34 Viscosupplements Not Applicable
35 Hylan 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 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:

42
Eye, Retina

Publications for Ocular Albinism, X-Linked

Articles related to Ocular Albinism, X-Linked:

(show all 30)
# Title Authors Year
1
Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143. ( 30513407 )
2018
2
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
3
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
4
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
5
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
6
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
7
Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. ( 24736838 )
2014
8
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137 )
2011
9
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
10
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. ( 18697795 )
2008
11
New mutations identified in the ocular albinism type 1 gene. ( 17822861 )
2007
12
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. ( 17920058 )
2007
13
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. ( 16550551 )
2006
14
The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. ( 16303920 )
2005
15
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. ( 16029416 )
2005
16
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. ( 15254223 )
2004
17
New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. ( 11793467 )
2002
18
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. ( 11214907 )
2001
19
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
20
The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution. ( 11775061 )
2001
21
Ocular albinism type 1: more than meets the eye. ( 11549106 )
2001
22
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. ( 11092754 )
2000
23
Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. ( 11095635 )
2000
24
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. ( 11115845 )
2000
25
Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. ( 9848314 )
1998
26
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. ( 8799153 )
1996
27
Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. ( 8889556 )
1996
28
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. ( 7795590 )
1995
29
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. ( 7647783 )
1995
30
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....