OA1
MCID: ALB024
MIFTS: 37

Albinism, Ocular, Type I (OA1)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Albinism, Ocular, Type I

MalaCards integrated aliases for Albinism, Ocular, Type I:

Name: Albinism, Ocular, Type I 57 39
Ocular Albinism, Type I 29 6 70
Oa1 57 58 72
Ocular Albinism, Type I, Nettleship-Falls Type 57 13
Nettleship-Falls Type Ocular Albinism 57 72
Ocular Albinism, Nettleship-Falls Type 58
X-Linked Recessive Ocular Albinism 58
Ocular Albinism Type 1 58
Albinism Ocular 1 72
Xloa 58
Oa-1 72

Characteristics:

Orphanet epidemiological data:

58
x-linked recessive ocular albinism
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Denmark); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
albinism, ocular, type i:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 300500
MeSH 44 D016117
MESH via Orphanet 45 C537863
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 71 C0342684
Orphanet 58 ORPHA54
MedGen 41 C0342684
UMLS 70 C0342684

Summaries for Albinism, Ocular, Type I

OMIM® : 57 Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009). (300500) (Updated 05-Apr-2021)

MalaCards based summary : Albinism, Ocular, Type I, also known as ocular albinism, type i, is related to ocular albinism, x-linked and orotic aciduria. An important gene associated with Albinism, Ocular, Type I is GPR143 (G Protein-Coupled Receptor 143). The drugs Diclofenac and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are visual impairment and photophobia

UniProtKB/Swiss-Prot : 72 Albinism ocular 1: Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.

Wikipedia : 73 Ocular albinism type 1 (OA1), is the most common type of ocular albinism, with a prevalence rate of... more...

Related Diseases for Albinism, Ocular, Type I

Graphical network of the top 20 diseases related to Albinism, Ocular, Type I:



Diseases related to Albinism, Ocular, Type I

Symptoms & Phenotypes for Albinism, Ocular, Type I

Human phenotypes related to Albinism, Ocular, Type I:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 58 31 Occasional (29-5%) HP:0000505
2 photophobia 58 31 Very frequent (99-80%) HP:0000613
3 ocular albinism 58 31 Very frequent (99-80%) HP:0001107
4 giant melanosomes in melanocytes 58 31 Occasional (29-5%) HP:0005592
5 nystagmus 58 Very frequent (99-80%)
6 strabismus 58 Frequent (79-30%)
7 myopia 58 Occasional (29-5%)
8 abnormal pupil morphology 58 Very frequent (99-80%)
9 neoplasm of the skin 58 Occasional (29-5%)
10 nystagmus-induced head nodding 31 HP:0001361
11 freckling 58 Frequent (79-30%)
12 astigmatism 58 Very frequent (99-80%)
13 iris hypopigmentation 58 Very frequent (99-80%)
14 hypoplasia of the fovea 58 Frequent (79-30%)
15 abnormal macular morphology 58 Frequent (79-30%)
16 depigmented fundus 31 HP:0007680

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
nystagmus
photophobia
depigmented fundus
impaired vision
albino pupillary reflex
more
Skin:
normal pigmentation

Lab:
macromelanosomes on em

Head:
head nodding

Misc:
mosaic fundal pigmentation in carrier females

Clinical features from OMIM®:

300500 (Updated 05-Apr-2021)

Drugs & Therapeutics for Albinism, Ocular, Type I

Drugs for Albinism, Ocular, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved 15307-86-5 3033
2 Analgesics, Non-Narcotic
3 Analgesics
4 Cyclooxygenase Inhibitors
5 Antirheumatic Agents
6 Anti-Inflammatory Agents
7 Anti-Inflammatory Agents, Non-Steroidal

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dry Needling and Spinal Manipulation or Interocclusal Appliance (Splint), NSAIDs and Joint Mobs for Temporomandibular Dysfunction Completed NCT03409874 NSAIDs

Search NIH Clinical Center for Albinism, Ocular, Type I

Genetic Tests for Albinism, Ocular, Type I

Genetic tests related to Albinism, Ocular, Type I:

# Genetic test Affiliating Genes
1 Ocular Albinism, Type I 29 GPR143

Anatomical Context for Albinism, Ocular, Type I

MalaCards organs/tissues related to Albinism, Ocular, Type I:

40
Eye, Retina

Publications for Albinism, Ocular, Type I

Articles related to Albinism, Ocular, Type I:

(show all 50)
# Title Authors PMID Year
1
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. 57 6
19610097 2009
2
Deletion in the OA1 gene in a family with congenital X linked nystagmus. 6 57
11520764 2001
3
X-linked ocular albinism: prevalence and mutations--a national study. 57 6
9887374 1998
4
OA1 mutations and deletions in X-linked ocular albinism. 6 57
9529334 1998
5
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. 57 6
8634705 1995
6
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. 6 57
7647783 1995
7
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. 57 61
11092754 2000
8
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. 57
18697795 2008
9
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. 57
17516023 2007
10
Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. 57
12506050 2003
11
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 57
11793467 2002
12
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 57
11214907 2001
13
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 57
11115845 2000
14
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. 57
7915878 1994
15
Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. 57
8301646 1993
16
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. 57
8230160 1993
17
Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. 6
8400292 1993
18
Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. 57
8330450 1993
19
Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. 57
8486368 1993
20
Refinement of the localization of the X-linked ocular albinism gene. 57
8486373 1993
21
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. 6
1427786 1992
22
Genetic mapping of X linked ocular albinism: linkage analysis in British families. 57
1355560 1992
23
Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis. 57
1348665 1992
24
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. 57
1684563 1991
25
Mechanisms of insertional mutagenesis in human genes causing genetic disease. 6
1652548 1991
26
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. 57
2573275 1989
27
X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism. 57
7239514 1981
28
Visual system anomalies in human ocular albinos. 57
684419 1978
29
X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. 57
666626 1978
30
X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. 57
985163 1976
31
X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. 57
1085370 1976
32
Nystagmus in a female carrier of ocular albinism. 57
5025477 1972
33
Ocular albinism in Newfoundland. 6
5125647 1971
34
Ocular albinism and Xg. 57
4102999 1971
35
Ocular albinism and Xg. 57
4172140 1968
36
Measurable linkage between ocular albinism and Xg. 57
6019304 1967
37
Sex chromatin and gene action in the mammalian X-chromosome. 57
14467629 1962
38
Ocular albinism with report of a family with female carriers. 57
13898629 1961
39
Sex-linked hereditary nystagmus. 57
13349334 1956
40
[Sex-linked ocular albinism and characteristic changes of the eye fundus in heterozygotic women]. 57
13120104 1953
41
Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia. 61
33785018 2021
42
Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations. 61
31574285 2019
43
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. 61
28632878 2017
44
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. 61
27720922 2017
45
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. 61
26252096 2015
46
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus. 61
26160353 2015
47
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. 61
22916221 2012
48
New mutations identified in the ocular albinism type 1 gene. 61
17822861 2007
49
Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. 61
16023414 2005
50
A new region of conservation is defined between human and mouse X chromosomes. 61
8661129 1996

Variations for Albinism, Ocular, Type I

ClinVar genetic disease variations for Albinism, Ocular, Type I:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPR143 GPR143, 2-BP INS, NT992 Insertion Pathogenic 10514 GRCh37:
GRCh38:
2 GPR143 GPR143, 17-BP DEL Deletion Pathogenic 10515 GRCh37:
GRCh38:
3 GPR143 NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) SNV Pathogenic 10516 rs137852296 GRCh37: X:9727430-9727430
GRCh38: X:9759390-9759390
4 GPR143 NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) SNV Pathogenic 10517 rs58933950 GRCh37: X:9727372-9727372
GRCh38: X:9759332-9759332
5 GPR143 NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) SNV Pathogenic 10518 rs137852297 GRCh37: X:9711677-9711677
GRCh38: X:9743637-9743637
6 GPR143 NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) SNV Pathogenic 10519 rs137852296 GRCh37: X:9727430-9727430
GRCh38: X:9759390-9759390
7 GPR143 GPR143, 420G-A SNV Pathogenic 10520 GRCh37:
GRCh38:
8 GPR143 NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) SNV Pathogenic 10521 rs62635018 GRCh37: X:9733754-9733754
GRCh38: X:9765714-9765714
9 GPR143 GPR143, 14-BP DEL, NT816 Deletion Pathogenic 10523 GRCh37:
GRCh38:
10 GPR143 NC_000023.9:g.9688757-?_9693917+?del Deletion Pathogenic 29984 GRCh37:
GRCh38:
11 GPR143 NM_000273.3(GPR143):c.548+2T>A SNV Pathogenic 915839 GRCh37: X:9716612-9716612
GRCh38: X:9748572-9748572
12 GPR143 NM_000273.3(GPR143):c.223dup (p.Ala75fs) Duplication Likely pathogenic 162039 rs672601353 GRCh37: X:9733634-9733635
GRCh38: X:9765594-9765595
13 GPR143 NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) SNV Likely benign 98632 rs62635032 GRCh37: X:9727456-9727456
GRCh38: X:9759416-9759416

UniProtKB/Swiss-Prot genetic disease variations for Albinism, Ocular, Type I:

72 (show all 33)
# Symbol AA change Variation ID SNP ID
1 GPR143 p.Gly35Asp VAR_005507 rs62635018
2 GPR143 p.Gly84Asp VAR_005508 rs62635027
3 GPR143 p.Gly84Arg VAR_005509 rs62635026
4 GPR143 p.Cys116Arg VAR_005510 rs62635030
5 GPR143 p.Gly118Glu VAR_005511 rs62635031
6 GPR143 p.Trp133Arg VAR_005513 rs137852296
7 GPR143 p.Ala138Val VAR_005514 rs62635762
8 GPR143 p.Ser152Asn VAR_005515 rs58933950
9 GPR143 p.Ala173Asp VAR_005516 rs62635035
10 GPR143 p.Thr232Lys VAR_005517 rs137852297
11 GPR143 p.Glu235Lys VAR_005518
12 GPR143 p.Trp292Gly VAR_005520 rs62635045
13 GPR143 p.Arg5Cys VAR_018130 rs62635289
14 GPR143 p.Leu39Arg VAR_018131 rs62635019
15 GPR143 p.Asp78Asn VAR_018132 rs62635024
16 GPR143 p.Asp78Val VAR_018133 rs62635025
17 GPR143 p.Cys116Ser VAR_018134 rs62635029
18 GPR143 p.Gln124Arg VAR_018135 rs62635032
19 GPR143 p.Gly229Val VAR_018136 rs62635037
20 GPR143 p.Glu233Lys VAR_018137 rs62635038
21 GPR143 p.Ile244Val VAR_018138 rs62635040
22 GPR143 p.Ile261Asn VAR_018139
23 GPR143 p.Glu271Gly VAR_018140 rs62635043
24 GPR143 p.Trp292Cys VAR_018141 rs62635046
25 GPR143 p.Gly81Val VAR_063265
26 GPR143 p.Cys116Gly VAR_063267
27 GPR143 p.Cys116Trp VAR_063268
28 GPR143 p.Trp132Arg VAR_063269
29 GPR143 p.Leu134Pro VAR_063270
30 GPR143 p.Thr166Asn VAR_063271
31 GPR143 p.Glu185Lys VAR_063272
32 GPR143 p.Arg186Pro VAR_063273
33 GPR143 p.Arg186Trp VAR_063274 rs199899645

Expression for Albinism, Ocular, Type I

Search GEO for disease gene expression data for Albinism, Ocular, Type I.

Pathways for Albinism, Ocular, Type I

GO Terms for Albinism, Ocular, Type I

Sources for Albinism, Ocular, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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