OA
MCID: OCL001
MIFTS: 49

Ocular Albinism (OA)

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

Aliases & Classifications for Ocular Albinism

MalaCards integrated aliases for Ocular Albinism:

Name: Ocular Albinism 12 76 25 37 29 6 15
Albinism, Ocular 76 25 44
Oa 25 3
Albinism Ocular 55
Xloa 25

Classifications:



Summaries for Ocular Albinism

Genetics Home Reference : 25 Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.

MalaCards based summary : Ocular Albinism, also known as albinism, ocular, is related to albinism, ocular, with late-onset sensorineural deafness and albinism, ocular, with sensorineural deafness. An important gene associated with Ocular Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Melanogenesis and Cushing syndrome. The drug Lutein has been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related phenotypes are nystagmus and visual impairment

Disease Ontology : 12 An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.

Wikipedia : 76 Albinism is the "congenital absence of any pigmentation or coloration in a person, animal or plant,... more...

Related Diseases for Ocular Albinism

Diseases in the Ocular Albinism family:

Albinism, Ocular, Type I

Diseases related to Ocular Albinism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with late-onset sensorineural deafness 33.7 MITF TYR
2 albinism, ocular, with sensorineural deafness 33.6 MITF TYR
3 albinism, oculocutaneous, type ii 31.3 OCA2 SLC45A2 TYR TYRP1
4 albinism, oculocutaneous, type ib 31.3 OCA2 SLC45A2 TYR TYRP1
5 albinism, oculocutaneous, type vii 31.2 OCA2 SLC45A2 TYR TYRP1
6 albinism, oculocutaneous, type iv 30.9 GPR143 MITF OCA2 SLC45A2 TYR TYRP1
7 albinism 30.8 GPR143 MITF OCA2 SLC45A2 TYR TYRP1
8 waardenburg's syndrome 30.1 MITF TYR TYRP1
9 microphthalmia 30.0 MITF TYR TYRP1
10 congenital nystagmus 29.8 GPR143 OCA2 TYR
11 pathologic nystagmus 29.5 GPR143 OCA2 SLC45A2 TYR
12 oculocutaneous albinism 29.4 OCA2 SLC45A2 TYR TYRP1
13 ocular albinism, x-linked 12.7
14 albinism, ocular, type i 12.3
15 osteoarthritis 12.1
16 aland island eye disease 11.9
17 microphthalmia with limb anomalies 11.4
18 anophthalmos with limb anomalies 11.4
19 esophageal atresia 11.3
20 autoimmune inner ear disease 11.2
21 albinism-deafness syndrome 11.1
22 nystagmus 1, congenital, x-linked 11.1
23 xp22.3 microdeletion syndrome 11.1
24 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 11.1
25 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.0
26 wolfram syndrome 11.0
27 rheumatoid arthritis 10.3
28 arthritis 10.2
29 pigmented basal cell carcinoma 10.2 MITF TYR
30 pityriasis rubra pilaris 10.2
31 hypomelanosis of ito 10.2 MITF TYR
32 malignant spindle cell melanoma 10.1 MITF TYR
33 epithelioid cell melanoma 10.1 MITF TYR
34 breast angiosarcoma 10.1 MITF TYR
35 tietz albinism-deafness syndrome 10.1 MITF TYR
36 waardenburg syndrome, type 1 10.1 MITF TYR
37 hepatitis 10.1
38 angiomyolipoma 10.1 MITF TYR
39 amelanotic melanoma 10.1 TYR TYRP1
40 acute contagious conjunctivitis 10.1 OCA2 TYR
41 piebald trait 10.0 MITF TYR
42 chediak-higashi syndrome 10.0 TYR TYRP1
43 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0 MITF TYR TYRP1
44 dowling-degos disease 1 10.0 MITF TYR TYRP1
45 hermansky-pudlak syndrome 3 10.0 MITF TYR TYRP1
46 ichthyosis 10.0
47 kallmann syndrome 10.0
48 waardenburg syndrome, type 2a 10.0 MITF TYR TYRP1
49 tetralogy of fallot 10.0
50 hepatitis b 10.0

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



Diseases related to Ocular Albinism

Symptoms & Phenotypes for Ocular Albinism

Human phenotypes related to Ocular Albinism:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 hallmark (90%) HP:0000639
2 visual impairment 32 hallmark (90%) HP:0000505
3 photophobia 32 hallmark (90%) HP:0000613
4 strabismus 32 frequent (33%) HP:0000486
5 nyctalopia 32 occasional (7.5%) HP:0000662
6 aplasia/hypoplasia of the macula 32 frequent (33%) HP:0008059
7 ocular albinism 32 hallmark (90%) HP:0001107
8 astigmatism 32 hallmark (90%) HP:0000483
9 miosis 32 frequent (33%) HP:0000616

GenomeRNAi Phenotypes related to Ocular Albinism according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.6 GPR143
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.6 MITF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.6 MITF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.6 MITF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.6 GPBAR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.6 GPBAR1 GPR143 MITF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.6 GPBAR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.6 GPR143
9 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.6 GPR143
10 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.6 GPR143
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.6 MITF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 MITF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.6 GPBAR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.6 GPR143
15 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.6 GPBAR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.6 GPBAR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.6 GPR143

MGI Mouse Phenotypes related to Ocular Albinism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 MITF OCA2 TYR TYRP1
2 integument MP:0010771 9.55 MITF OCA2 SLC45A2 TYR TYRP1
3 pigmentation MP:0001186 9.43 GPR143 MITF OCA2 SLC45A2 TYR TYRP1
4 vision/eye MP:0005391 9.1 GPR143 MITF OCA2 SLC45A2 TYR TYRP1

Drugs & Therapeutics for Ocular Albinism

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Investigational, Nutraceutical Not Applicable 127-40-2 6433159

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Completed NCT02200263 Not Applicable
2 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
3 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106

Search NIH Clinical Center for Ocular Albinism

Cochrane evidence based reviews: albinism, ocular

Genetic Tests for Ocular Albinism

Genetic tests related to Ocular Albinism:

# Genetic test Affiliating Genes
1 Ocular Albinism 29

Anatomical Context for Ocular Albinism

MalaCards organs/tissues related to Ocular Albinism:

41
Eye, Retina, Skin, Bone, Brain, Testes, Prostate

Publications for Ocular Albinism

Articles related to Ocular Albinism:

(show top 50) (show all 174)
# Title Authors Year
1
Ocular albinism with infertility and late-onset sensorineural hearing loss. ( 30160833 )
2018
2
Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143. ( 30513407 )
2018
3
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. ( 30555098 )
2018
4
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
5
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. ( 28632878 )
2017
6
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. ( 28211458 )
2017
7
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
8
Author Response: Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism". ( 28910827 )
2017
9
Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism". ( 28910826 )
2017
10
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ( 28234808 )
2017
11
[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism]. ( 28397224 )
2017
12
[Oculocutaneous and ocular albinism]. ( 29018889 )
2017
13
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
14
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
15
Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function. ( 29253306 )
2017
16
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. ( 27462254 )
2016
17
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. ( 27225848 )
2016
18
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
19
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. ( 27607449 )
2016
20
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. ( 27344970 )
2016
21
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
22
Deep intronic GPR143 mutation in a Japanese family with ocular albinism. ( 26061757 )
2015
23
Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review. ( 26622141 )
2015
24
A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient. ( 26547501 )
2015
25
Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. ( 25601010 )
2015
26
Localization of ocular albinism-1 gene product GPR143 in the rat central nervous system. ( 25108060 )
2014
27
The protein Ocular albinism 1 is the orphan GPCR GPR143 and mediates depressor and bradycardic responses to DOPA in the nucleus tractus solitarii. ( 24117106 )
2014
28
Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. ( 24526317 )
2014
29
Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview. ( 24962442 )
2014
30
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. ( 25373814 )
2014
31
The cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1. ( 25185585 )
2014
32
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion. ( 24478262 )
2014
33
Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. ( 24736838 )
2014
34
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. ( 24301936 )
2013
35
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. ( 22916221 )
2012
36
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137 )
2011
37
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. ( 20649618 )
2010
38
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21274678 )
2010
39
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21348135 )
2010
40
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. ( 20806075 )
2010
41
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
42
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. ( 19139336 )
2009
43
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. ( 19604113 )
2009
44
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. ( 19123159 )
2009
45
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. ( 20006830 )
2009
46
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. ( 19938076 )
2009
47
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ( 19208379 )
2009
48
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. ( 19610097 )
2009
49
Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. ( 18424845 )
2008
50
Retinal function in X-linked ocular albinism (OA1). ( 18798082 )
2008

Variations for Ocular Albinism

ClinVar genetic disease variations for Ocular Albinism:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh37 Chromosome 11, 88911386: 88911386
2 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh38 Chromosome 11, 89178218: 89178218
3 TYR NM_000372.4(TYR): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs1057518763 GRCh38 Chromosome 11, 89178027: 89178027
4 TYRP1 NM_000550.2(TYRP1): c.670C> T (p.His224Tyr) single nucleotide variant Likely pathogenic rs1057518841 GRCh37 Chromosome 9, 12695799: 12695799
5 TYRP1 NM_000550.2(TYRP1): c.670C> T (p.His224Tyr) single nucleotide variant Likely pathogenic rs1057518841 GRCh38 Chromosome 9, 12695799: 12695799
6 TYRP1 NM_000550.2(TYRP1): c.1133A> G (p.Asn378Ser) single nucleotide variant Likely pathogenic rs771055145 GRCh37 Chromosome 9, 12704577: 12704577
7 TYRP1 NM_000550.2(TYRP1): c.1133A> G (p.Asn378Ser) single nucleotide variant Likely pathogenic rs771055145 GRCh38 Chromosome 9, 12704577: 12704577
8 TYR NM_000372.4(TYR): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs1057518763 GRCh37 Chromosome 11, 88911195: 88911195
9 GPR143 NM_000273.2(GPR143): c.12_36del25 (p.Leu6Glyfs) deletion Likely pathogenic rs1057518787 GRCh38 Chromosome X, 9765782: 9765806
10 GPR143 NM_000273.2(GPR143): c.12_36del25 (p.Leu6Glyfs) deletion Likely pathogenic rs1057518787 GRCh37 Chromosome X, 9733822: 9733846
11 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh38 Chromosome 11, 89284940: 89284940
12 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh37 Chromosome 11, 89018108: 89018108

Expression for Ocular Albinism

Search GEO for disease gene expression data for Ocular Albinism.

Pathways for Ocular Albinism

Pathways related to Ocular Albinism according to KEGG:

37
# Name Kegg Source Accession
1 Melanogenesis hsa04916

Pathways related to Ocular Albinism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 MITF TYR TYRP1
2 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Ocular Albinism

Cellular components related to Ocular Albinism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 9.33 CLCN4 OCA2 TYRP1
2 melanosome GO:0042470 9.13 GPR143 TYR TYRP1
3 melanosome membrane GO:0033162 9.02 GPR143 OCA2 SLC45A2 TYR TYRP1

Biological processes related to Ocular Albinism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.58 GPR143 SLC45A2 TYR
2 pigmentation GO:0043473 9.46 MITF OCA2 TYR TYRP1
3 melanocyte differentiation GO:0030318 9.43 MITF OCA2 TYRP1
4 melanosome organization GO:0032438 9.37 GPR143 TYRP1
5 developmental pigmentation GO:0048066 9.32 OCA2 SLC45A2
6 eye pigment biosynthetic process GO:0006726 9.13 GPR143 OCA2 TYR
7 melanin biosynthetic process GO:0042438 8.92 OCA2 SLC45A2 TYR TYRP1

Molecular functions related to Ocular Albinism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.62 TYR TYRP1

Sources for Ocular Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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