OA1
MCID: OCL016
MIFTS: 18

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 52
Xloa 24 52
Oa1 24 52
Nettleship-Falls Type Ocular Albinism 52
X-Linked Recessive Ocular Albinism 52
Nettleship-Falls Ocular Albinism 24
X-Linked Ocular Albinism 52
Ocular Albinism, Type I 71

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

UMLS 71 C0342684

Summaries for Ocular Albinism, X-Linked

NIH Rare Diseases : 52 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 orotic aciduria and albinism, oculocutaneous, type ib. An important gene associated with Ocular Albinism, X-Linked is GPR143 (G Protein-Coupled Receptor 143). Affiliated tissues include eye, retina and testes.

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

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, Testes

Publications for Ocular Albinism, X-Linked

Articles related to Ocular Albinism, X-Linked:

(show all 44)
# Title Authors PMID Year
1
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. 61 24
12180081 2002
2
X-linked ocular albinism: prevalence and mutations--a national study. 61 24
9887374 1998
3
Clinical features of affected males with X linked ocular albinism. 61 24
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. 24
24478262 2014
5
GPR143 gene mutation analysis in pediatric patients with albinism. 24
22486324 2012
6
Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus. 24
21220551 2011
7
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. 24
21541274 2011
8
The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. 24
16524428 2006
9
Misrouting of the optic nerves in albinism: estimation of the extent with visual evoked potentials. 24
16186379 2005
10
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. 24
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. 24
15965158 2005
12
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. 24
15059699 2004
13
Mutational analysis of the OA1 gene in ocular albinism. 24
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. 24
12515581 2003
15
Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. 24
12506050 2003
16
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 24
11793467 2002
17
Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children. 24
11824661 2001
18
Deletion in the OA1 gene in a family with congenital X linked nystagmus. 24
11520764 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. 24
11260525 2001
20
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 24
11214907 2001
21
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 24
11115845 2000
22
Comparison of techniques for detecting visually evoked potential asymmetry in albinism. 24
11040481 2000
23
Ocular albinism: evidence for a defect in an intracellular signal transduction system. 24
10471510 1999
24
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. 24
10330347 1999
25
Congenital motor nystagmus linked to Xq26-q27. 24
9973299 1999
26
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 24
9662400 1998
27
OA1 mutations and deletions in X-linked ocular albinism. 24
9529334 1998
28
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 24
9158138 1997
29
A new mechanism in blue cone monochromatism. 24
8792812 1996
30
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. 24
8799153 1996
31
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. 24
8634705 1995
32
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. 24
7647783 1995
33
Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. 24
8301646 1993
34
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. 24
2573275 1989
35
Molecular genetics of human blue cone monochromacy. 24
2788922 1989
36
X-linked Ocular Albinism. 61
30578484 2018
37
D-xylose isomerase from a marine bacterium, Vibrio sp. strain XY-214, and D-xylulose production from β-1,3-xylan. 61
21519808 2012
38
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. 61
21423867 2011
39
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. 61
20649618 2010
40
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
41
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. 61
16969871 2006
42
Ocular Albinism, X-Linked 61
20301517 2004
43
Genetic mapping of X linked ocular albinism: linkage analysis in British families. 61
1355560 1992
44
Macromelanosomes in X-linked ocular albinism (XLOA). 61
2578709 1985

Variations for Ocular Albinism, X-Linked

Expression for Ocular Albinism, X-Linked

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Pathways for Ocular Albinism, X-Linked

GO Terms for Ocular Albinism, X-Linked

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