Aliases & Classifications for Ocular Albinism

Aliases & Descriptions for Ocular Albinism:

Name: Ocular Albinism 12 25 14
Albinism, Ocular 25 29
Albinism Ocular 52
Xloa 25
Oa 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050633

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, x-linked and ocular albinism, type i, nettleship-falls type, and has symptoms including photophobia, nystagmus and visual impairment. An important gene associated with Ocular Albinism is TYR (Tyrosinase), and among its related pathways/superpathways is Melanin biosynthesis. The drugs Tretinoin and Pharmaceutical Solutions 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 : 71 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 72)
id Related Disease Score Top Affiliating Genes
1 ocular albinism, x-linked 12.4
2 ocular albinism, type i, nettleship-falls type 12.3
3 waardenburg syndrome/ocular albinism, digenic 12.3
4 ocular albinism with sensorineural deafness 12.2
5 osteoarthritis 1 11.6
6 aland island eye disease 11.6
7 osteoarthritis 11.5
8 microphthalmia with limb anomalies 11.1
9 autoimmune inner ear disease 10.9
10 nystagmus 1, congenital, x-linked 10.8
11 albinism, oculocutaneous, type ia 10.8
12 albinism, oculocutaneous, type ii 10.8
13 wolfram syndrome 10.8
14 renal tubular acidosis, proximal, with ocular abnormalities 10.8
15 osteochondritis dissecans, short stature, and early-onset osteoarthritis 10.8
16 albinism 10.8
17 hypogonadotropic hypogonadism 1 with or without anosmia 10.2 GPR143 TYR
18 melanoma, cutaneous malignant 8 10.2 MITF TYR
19 epilepsy, progressive myoclonic 5 10.1 MITF TYR
20 intracranial embolism 10.1 MITF TYR
21 external ear basal cell carcinoma 10.1 MITF TYR
22 pyloric stenosis, infantile hypertrophic, 3 10.1 OCA2 TYR
23 verrucous papilloma 10.1 MITF TYR
24 cerebral artery occlusion 10.1 MITF TYR
25 craniosynostosis 6 10.1 MITF TYR
26 epidermolysis bullosa simplex, recessive 1 10.1 MITF TYR
27 alpha chain disease 10.1 MITF TYR
28 cervical incompetence 10.0 GPR143 OCA2 TYR
29 small intestine diverticulitis 10.0 OCA2 TYR
30 rheumatoid arthritis 10.0
31 arthritis 10.0
32 aicardi-goutieres syndrome 6 10.0 MITF OCA2 TYR
33 neuronitis 10.0
34 focal facial dermal dysplasia 4 9.9 OCA2 SLC45A2 TYR
35 anauxetic dysplasia 1 9.9 OCA2 SLC45A2 TYR
36 gangliosidosis gm1 9.9 MITF TYR
37 microphthalmia 9.9
38 enthesopathy 9.8
39 hepatitis 9.8
40 hepatitis b 9.8
41 ichthyosis 9.8
42 retinitis 9.8
43 kallmann syndrome 9.8
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.8 MITF OCA2 SLC45A2 TYR
45 encephalitis 9.7
46 prostate cancer 9.7
47 asthma 9.7
48 synovitis 9.7
49 glioblastoma 9.7
50 vaccinia 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 photophobia 32 HP:0000613
2 nystagmus 32 HP:0000639
3 visual impairment 32 HP:0000505
4 strabismus 32 HP:0000486
5 aplasia/hypoplasia of the macula 32 HP:0008059
6 ocular albinism 32 HP:0001107
7 astigmatism 32 HP:0000483
8 miosis 32 HP:0000616
9 nyctalopia 32 HP:0000662

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 MITF GPBAR1 GPR143
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 GPR143 MITF OCA2 SLC45A2 TYR
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 top 50) (show all 57)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
2 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
3
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741 24759
4 Adjuvants, Immunologic Phase 3
5 Protective Agents Phase 3,Phase 2,Phase 1
6 Viscosupplements Phase 3
7
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
8
Levodopa Approved Phase 2 59-92-7 6047
9
Carbidopa Approved Phase 2 28860-95-9 34359 38101
10
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
11
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
12
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
13
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
14
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
15
Pirfenidone Investigational Phase 2 53179-13-8 40632
16 Antiparkinson Agents Phase 2
17 Dihydroxyphenylalanine Phase 2
18 Dopamine Agents Phase 2
19 Neurotransmitter Agents Phase 2
20 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
21 Autonomic Agents Phase 2
22 Carbidopa, levodopa drug combination Phase 2
23 Peripheral Nervous System Agents Phase 2,Phase 1
24 Analgesics Phase 2,Phase 1
25 Analgesics, Non-Narcotic Phase 2,Phase 1
26 Anti-Inflammatory Agents Phase 2,Phase 1
27 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
28 Antirheumatic Agents Phase 2,Phase 1
29
Angiotensin II Phase 1, Phase 2 68521-88-0, 11128-99-7 65143 172198
30 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
31 Angiotensin Receptor Antagonists Phase 1, Phase 2
32 Angiotensinogen Phase 1, Phase 2
33 Anti-Arrhythmia Agents Phase 1, Phase 2
34 Anti-Bacterial Agents Phase 1, Phase 2
35 Anticholesteremic Agents Phase 1, Phase 2
36 Antidotes Phase 1, Phase 2
37 Antihypertensive Agents Phase 1, Phase 2
38 Anti-Infective Agents Phase 1, Phase 2
39 Antimetabolites Phase 1, Phase 2
40 Antioxidants Phase 1, Phase 2
41 Antiviral Agents Phase 1, Phase 2
42 Erythromycin Estolate Phase 1, Phase 2
43 Erythromycin Ethylsuccinate Phase 1, Phase 2
44 Erythromycin stearate Phase 1, Phase 2
45 Expectorants Phase 1, Phase 2
46 Gastrointestinal Agents Phase 1, Phase 2
47 Hormone Antagonists Phase 1, Phase 2
48 Hormones Phase 1, Phase 2
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
50 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
2 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
3 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
4 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Recruiting NCT02156427 Phase 3
5 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2
6 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2
7 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2
8 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Active, not recruiting NCT00001596 Phase 2
9 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2
10 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2
11 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
12 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263
13 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
14 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
15 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
16 Clinical and Basic Investigations Into Erdheim Chester Disease Recruiting NCT01417520
17 Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation Recruiting NCT00852943

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 156)
id Title Authors Year
1
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
2
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. ( 27225848 )
2016
3
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
4
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. ( 27462254 )
2016
5
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
6
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. ( 27607449 )
2016
7
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. ( 27344970 )
2016
8
Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. ( 25601010 )
2015
9
Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review. ( 26622141 )
2015
10
Deep intronic GPR143 mutation in a Japanese family with ocular albinism. ( 26061757 )
2015
11
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
12
Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. ( 24526317 )
2014
13
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion. ( 24478262 )
2014
14
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
15
Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. ( 24736838 )
2014
16
Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview. ( 24962442 )
2014
17
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. ( 25373814 )
2014
18
The cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1. ( 25185585 )
2014
19
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. ( 24301936 )
2013
20
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. ( 22916221 )
2012
21
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137 )
2011
22
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. ( 20806075 )
2010
23
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. ( 20649618 )
2010
24
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21348135 )
2010
25
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21274678 )
2010
26
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. ( 19610097 )
2009
27
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. ( 20006830 )
2009
28
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. ( 19938076 )
2009
29
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. ( 19123159 )
2009
30
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. ( 19604113 )
2009
31
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
32
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ( 19208379 )
2009
33
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. ( 19139336 )
2009
34
Images in clinical medicine. Horizontal pendular nystagmus in a patient with ocular albinism. ( 18669422 )
2008
35
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. ( 18697795 )
2008
36
Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. ( 18424845 )
2008
37
Protracted micro-nystagmus induced by video game play in a patient with mild ocular albinism. ( 18811587 )
2008
38
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. ( 18978956 )
2008
39
Retinal function in X-linked ocular albinism (OA1). ( 18798082 )
2008
40
X-Linked ocular albinism; Nettleship-Falls ocular albinism. ( 18627740 )
2008
41
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. ( 18326704 )
2008
42
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. ( 17920058 )
2007
43
Identification of two novel mutations in families with X-linked ocular albinism. ( 17960122 )
2007
44
New mutations identified in the ocular albinism type 1 gene. ( 17822861 )
2007
45
Eight previously unidentified mutations found in the OA1 ocular albinism gene. ( 16646960 )
2006
46
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. ( 16754205 )
2006
47
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. ( 16550551 )
2006
48
Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism. ( 16799067 )
2006
49
Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae. ( 16154128 )
2006
50
Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. ( 15965158 )
2005

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 GRCh37 Chromosome 11, 88911195: 88911195

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 9.58 GPR143 SLC45A2 TYR
2 melanosome organization GO:0032438 9.37 GPR143 SHROOM2
3 pigmentation GO:0043473 9.33 MITF OCA2 TYR
4 melanocyte differentiation GO:0030318 9.32 MITF OCA2
5 developmental pigmentation GO:0048066 9.26 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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