OA1
MCID: OCL016
MIFTS: 19

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 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:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

UMLS 73 C0342684

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). 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 15)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, type i 12.2
2 orotic aciduria 11.4
3 albinism, oculocutaneous, type ib 11.1
4 nystagmus 1, congenital, x-linked 11.1
5 ocular albinism 10.4
6 microphthalmia 10.1
7 congenital nystagmus 10.1
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 pathologic nystagmus 10.0
15 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

Search Clinical Trials , 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

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

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