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 20
Xloa 25 20
Oa1 25 20
Nettleship-Falls Type Ocular Albinism 20
X-Linked Recessive Ocular Albinism 20
Nettleship-Falls Ocular Albinism 25
X-Linked Ocular Albinism 20
Ocular Albinism, Type I 71

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


Summaries for Ocular Albinism, X-Linked

GARD : 20 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, and related phenotypes are nystagmus and photophobia

GeneReviews: NBK1343

Related Diseases for Ocular Albinism, X-Linked

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 hallmark (90%) HP:0000639
2 photophobia 31 hallmark (90%) HP:0000613
3 abnormal pupil morphology 31 hallmark (90%) HP:0000615
4 astigmatism 31 hallmark (90%) HP:0000483
5 ocular albinism 31 hallmark (90%) HP:0001107
6 strabismus 31 frequent (33%) HP:0000486
7 freckling 31 frequent (33%) HP:0001480
8 hypoplasia of the fovea 31 frequent (33%) HP:0007750
9 visual impairment 31 occasional (7.5%) HP:0000505
10 myopia 31 occasional (7.5%) HP:0000545
11 neoplasm of the skin 31 occasional (7.5%) HP:0008069
12 giant melanosomes in melanocytes 31 occasional (7.5%) HP:0005592

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:

40
Eye, Retina

Publications for Ocular Albinism, X-Linked

Articles related to Ocular Albinism, X-Linked:

(show all 43)
# Title Authors PMID Year
1
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. 25 61
12180081 2002
2
X-linked ocular albinism: prevalence and mutations--a national study. 61 25
9887374 1998
3
Clinical features of affected males with X linked ocular albinism. 61 25
8494858 1993
4
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion. 25
24478262 2014
5
GPR143 gene mutation analysis in pediatric patients with albinism. 25
22486324 2012
6
Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus. 25
21220551 2011
7
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. 25
21541274 2011
8
The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. 25
16524428 2006
9
Misrouting of the optic nerves in albinism: estimation of the extent with visual evoked potentials. 25
16186379 2005
10
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. 25
16029416 2005
11
Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. 25
15965158 2005
12
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. 25
15059699 2004
13
Mutational analysis of the OA1 gene in ocular albinism. 25
12868035 2003
14
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. 25
12515581 2003
15
Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. 25
12506050 2003
16
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 25
11793467 2002
17
Deletion in the OA1 gene in a family with congenital X linked nystagmus. 25
11520764 2001
18
Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis. 25
11260525 2001
19
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 25
11214907 2001
20
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 25
11115845 2000
21
Comparison of techniques for detecting visually evoked potential asymmetry in albinism. 25
11040481 2000
22
Ocular albinism: evidence for a defect in an intracellular signal transduction system. 25
10471510 1999
23
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. 25
10330347 1999
24
Congenital motor nystagmus linked to Xq26-q27. 25
9973299 1999
25
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 25
9662400 1998
26
OA1 mutations and deletions in X-linked ocular albinism. 25
9529334 1998
27
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 25
9158138 1997
28
A new mechanism in blue cone monochromatism. 25
8792812 1996
29
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. 25
8799153 1996
30
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. 25
8634705 1995
31
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. 25
7647783 1995
32
Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. 25
8301646 1993
33
An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. 25
2573275 1989
34
Molecular genetics of human blue cone monochromacy. 25
2788922 1989
35
X-linked Ocular Albinism. 61
30578484 2018
36
D-xylose isomerase from a marine bacterium, Vibrio sp. strain XY-214, and D-xylulose production from β-1,3-xylan. 61
21519808 2012
37
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. 61
21423867 2011
38
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. 61
20649618 2010
39
Cloning of a novel gene encoding beta-1,3-xylosidase from a marine bacterium, Vibrio sp. strain XY-214, and characterization of the gene product. 61
17993567 2008
40
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. 61
16969871 2006
41
Ocular Albinism, X-Linked 61
20301517 2004
42
Genetic mapping of X linked ocular albinism: linkage analysis in British families. 61
1355560 1992
43
Macromelanosomes in X-linked ocular albinism (XLOA). 61
2578709 1985

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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