Aliases & Classifications for Ocular Albinism

MalaCards integrated aliases for Ocular Albinism:

Name: Ocular Albinism 12 25 29 14
Albinism, Ocular 25
Albinism Ocular 52
Xloa 25
Oa 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 ocular albinism with sensorineural deafness and ocular albinism, x-linked, and has symptoms including astigmatism, strabismus and visual impairment. An important gene associated with Ocular Albinism is TYR (Tyrosinase), and among its related pathways/superpathways is Melanin biosynthesis. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation

Wikipedia : 72 Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily... more...

Related Diseases for Ocular Albinism

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

(show top 50) (show all 79)
id Related Disease Score Top Affiliating Genes
1 ocular albinism with sensorineural deafness 12.4
2 ocular albinism, x-linked 12.4
3 ocular albinism, type i, nettleship-falls type 12.3
4 waardenburg syndrome/ocular albinism, digenic 12.3
5 osteoarthritis 1 11.6
6 aland island eye disease 11.6
7 osteoarthritis 11.4
8 anophthalmos with limb anomalies 11.1
9 microphthalmia with limb anomalies 11.1
10 esophageal atresia 11.1
11 albinism, oculocutaneous, type ib 10.8
12 albinism, oculocutaneous, type ii 10.8
13 albinism-deafness syndrome 10.8
14 nystagmus 1, congenital, x-linked 10.8
15 renal tubular acidosis, proximal, with ocular abnormalities 10.8
16 albinism 10.8
17 osteochondritis dissecans, short stature, and early-onset osteoarthritis 10.8
18 wolfram syndrome 10.8
19 hypogonadotropic hypogonadism 1 with or without anosmia 10.5 GPR143 TYR
20 tietz albinism-deafness syndrome 10.5 MITF TYR
21 commad syndrome 10.5 MITF TYR
22 sebaceous basal cell carcinoma 10.5 MITF TYR
23 schnitzler syndrome 10.5 MITF TYR
24 fallopian tube serous papilloma 10.4 MITF TYR
25 thyroid angiosarcoma 10.4 MITF TYR
26 melanoma, cutaneous malignant 8 10.4 MITF TYR
27 acute hydrops keratoconus 10.4 MITF TYR
28 epidermolysis bullosa simplex-mcr 10.3 MITF TYR
29 autism susceptibility 16 10.3 MITF TYR
30 gangliosidosis gm2 10.2 MITF TYR
31 atrophic gastritis 10.2 MITF TYR
32 heavy chain disease 10.1 MITF TYR
33 small intestine diverticulitis 10.1 OCA2 TYR
34 oral mucosa leukoplakia 10.1 GPR143 OCA2 TYR
35 dyschromatosis symmetrica hereditaria 10.0 MITF OCA2 TYR
36 rheumatoid arthritis 10.0
37 arthritis 10.0
38 retinitis 10.0
39 neuronitis 10.0
40 microphthalmia 9.9
41 autoinflammation with arthritis and dyskeratosis 9.9 MITF TYR
42 enthesopathy 9.8
43 hepatitis 9.8
44 hepatitis b 9.8
45 agammaglobulinemia 4 9.8 OCA2 SLC45A2 TYR
46 kallmann syndrome 9.8
47 ichthyosis 9.8
48 primary cutaneous amyloidosis 9.8 OCA2 SLC45A2 TYR
49 vaccinia 9.7
50 tick-borne encephalitis 9.7

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

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

26
id 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-202 9.6 MITF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 MITF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-22 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 SLC45A2 TYR GPR143 MITF OCA2
2 vision/eye MP:0005391 9.02 GPR143 MITF OCA2 SLC45A2 TYR

Drugs & Therapeutics for Ocular Albinism

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 2 59-92-7 6047
3
Carbidopa Approved Phase 2 28860-95-9 34359 38101
4
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
5 Antiparkinson Agents Phase 2
6 Dihydroxyphenylalanine Phase 2
7 Dopamine Agents Phase 2
8 Neurotransmitter Agents Phase 2
9 Pharmaceutical Solutions Phase 2
10 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
11 Autonomic Agents Phase 2
12 Carbidopa, levodopa drug combination Phase 2
13 Peripheral Nervous System Agents Phase 2
14 Protective Agents Phase 2
15
Lutein Nutraceutical 127-40-2 6433159 5368396

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Levodopa
2 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2 Levodopa/carbidopa
3 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2 Nitisinone (NTBC)
4 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
5 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263
6 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106

Search NIH Clinical Center for Ocular Albinism

Genetic Tests for Ocular Albinism

Genetic tests related to Ocular Albinism:

id Genetic test Affiliating Genes
1 Ocular Albinism 29

Anatomical Context for Ocular Albinism

MalaCards organs/tissues related to Ocular Albinism:

39
Eye, Retina, Skin, Testes, Brain

Publications for Ocular Albinism

Articles related to Ocular Albinism:

(show top 50) (show all 162)
id Title Authors Year
1
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
2
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. ( 28211458 )
2017
3
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
4
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
5
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ( 28234808 )
2017
6
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. ( 28632878 )
2017
7
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
8
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. ( 27607449 )
2016
9
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
10
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. ( 27344970 )
2016
11
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. ( 27225848 )
2016
12
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
13
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. ( 27462254 )
2016
14
Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review. ( 26622141 )
2015
15
Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. ( 25601010 )
2015
16
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
17
Deep intronic GPR143 mutation in a Japanese family with ocular albinism. ( 26061757 )
2015
18
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
19
Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview. ( 24962442 )
2014
20
Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. ( 24526317 )
2014
21
The cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1. ( 25185585 )
2014
22
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. ( 25373814 )
2014
23
Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. ( 24736838 )
2014
24
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion. ( 24478262 )
2014
25
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. ( 24301936 )
2013
26
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. ( 22916221 )
2012
27
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137 )
2011
28
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21274678 )
2010
29
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21348135 )
2010
30
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. ( 20649618 )
2010
31
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. ( 20806075 )
2010
32
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. ( 19139336 )
2009
33
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. ( 20006830 )
2009
34
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. ( 19938076 )
2009
35
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ( 19208379 )
2009
36
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. ( 19610097 )
2009
37
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
38
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. ( 19123159 )
2009
39
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. ( 19604113 )
2009
40
Retinal function in X-linked ocular albinism (OA1). ( 18798082 )
2008
41
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. ( 18978956 )
2008
42
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. ( 18326704 )
2008
43
X-Linked ocular albinism; Nettleship-Falls ocular albinism. ( 18627740 )
2008
44
Protracted micro-nystagmus induced by video game play in a patient with mild ocular albinism. ( 18811587 )
2008
45
Images in clinical medicine. Horizontal pendular nystagmus in a patient with ocular albinism. ( 18669422 )
2008
46
Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. ( 18424845 )
2008
47
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. ( 18697795 )
2008
48
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. ( 17920058 )
2007
49
Identification of two novel mutations in families with X-linked ocular albinism. ( 17960122 )
2007
50
New mutations identified in the ocular albinism type 1 gene. ( 17822861 )
2007

Variations for Ocular Albinism

ClinVar genetic disease variations for Ocular Albinism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs1057518763 GRCh38 Chromosome 11, 89178027: 89178027

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 9.5 OCA2 SLC45A2 TYR

GO Terms for Ocular Albinism

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

id Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.92 GPR143 OCA2 SLC45A2 TYR

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

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.54 GPR143 SLC45A2 TYR
2 pigmentation GO:0043473 9.4 OCA2 TYR
3 melanosome organization GO:0032438 9.32 GPR143 SHROOM2
4 melanocyte differentiation GO:0030318 9.26 MITF OCA2
5 developmental pigmentation GO:0048066 9.16 OCA2 SLC45A2
6 melanin biosynthetic process GO:0042438 9.13 OCA2 SLC45A2 TYR
7 eye pigment biosynthetic process GO:0006726 8.8 GPR143 OCA2 TYR

Sources for Ocular Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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