MCID: OCL001
MIFTS: 47

Ocular Albinism

Categories: Eye diseases, Bone diseases, Genetic diseases, Metabolic diseases, Rare 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
Oa 25 3
Albinism Ocular 55
Xloa 25

Classifications:



Summaries for Ocular Albinism

CDC : 3 Osteoarthritis (OA) is the most common form of arthritis. It is sometimes called degenerative joint disease or “wear and tear” arthritis. It most frequently occurs in the hands, hips, and knees. With OA, the cartilage and bones within a joint begin to break down. These changes usually develop slowly and get worse over time. OA can cause pain, stiffness, and swelling, and can result in disability.

MalaCards based summary : Ocular Albinism, also known as albinism, ocular, is related to albinism, ocular, with sensorineural deafness and albinism, oculocutaneous, type ii. An important gene associated with Ocular Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Melanogenesis and Melanin biosynthesis. The drug Lutein has been mentioned in the context of this disorder. Affiliated tissues include eye, skin and retina, and related phenotypes are astigmatism and strabismus

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.

Wikipedia : 76 Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment... 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 89)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with sensorineural deafness 33.9 MITF TYR
2 albinism, oculocutaneous, type ii 31.6 OCA2 TYRP1
3 waardenburg's syndrome 30.0 MITF TYR TYRP1
4 microphthalmia 29.6 MITF TYR TYRP1
5 congenital nystagmus 29.6 GPR143 OCA2 TYR
6 albinism 29.0 GPR143 MITF OCA2 SLC45A2 TYR TYRP1
7 oculocutaneous albinism 28.4 OCA2 SLC45A2 TYR TYRP1
8 ocular albinism, x-linked 12.5
9 albinism, ocular, type i 12.1
10 albinism, ocular, with late-onset sensorineural deafness 12.1
11 osteoarthritis 11.9
12 aland island eye disease 11.7
13 microphthalmia with limb anomalies 11.3
14 anophthalmos with limb anomalies 11.2
15 esophageal atresia 11.2
16 autoimmune inner ear disease 11.0
17 albinism-deafness syndrome 10.9
18 nystagmus 1, congenital, x-linked 10.9
19 albinism, oculocutaneous, type ib 10.9
20 xp22.3 microdeletion syndrome 10.9
21 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 10.9
22 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.9
23 wolfram syndrome 10.9
24 pigmented basal cell carcinoma 10.5 MITF TYR
25 malignant spindle cell melanoma 10.5 MITF TYR
26 epithelioid cell melanoma 10.5 MITF TYR
27 breast angiosarcoma 10.5 MITF TYR
28 tietz albinism-deafness syndrome 10.4 MITF TYR
29 pigmentation disease 10.4 MITF TYR
30 angiomyolipoma 10.3 MITF TYR
31 amelanotic melanoma 10.3 TYR TYRP1
32 integumentary system cancer 10.1 MITF TYR
33 acute contagious conjunctivitis 10.1 OCA2 TYR
34 chediak-higashi syndrome 10.1 TYR TYRP1
35 retinitis 10.1
36 rheumatoid arthritis 10.1
37 arthritis 10.1
38 dowling-degos disease 1 10.0 MITF TYR TYRP1
39 neuronitis 10.0
40 hermansky-pudlak syndrome 3 10.0 MITF TYR TYRP1
41 strabismus 10.0 GPR143 TYR TYRP1
42 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 MITF TYR TYRP1
43 hepatitis 10.0
44 hepatitis b 9.9
45 enthesopathy 9.9
46 vogt-koyanagi-harada disease 9.9 TYR TYRP1
47 ichthyosis 9.9
48 kallmann syndrome 9.9
49 prostate cancer 9.8
50 scleroderma, familial progressive 9.8

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 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 (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 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
2 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263 Not Applicable
3 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:

# Genetic test Affiliating Genes
1 Ocular Albinism 29

Anatomical Context for Ocular Albinism

MalaCards organs/tissues related to Ocular Albinism:

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

Publications for Ocular Albinism

Articles related to Ocular Albinism:

(show top 50) (show all 166)
# Title Authors Year
1
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
2
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. ( 28632878 )
2017
3
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. ( 28211458 )
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 a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism]. ( 28397224 )
2017
7
[Oculocutaneous and ocular albinism]. ( 29018889 )
2017
8
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
9
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
10
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
11
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. ( 27462254 )
2016
12
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. ( 27225848 )
2016
13
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
14
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. ( 27607449 )
2016
15
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. ( 27344970 )
2016
16
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
17
Deep intronic GPR143 mutation in a Japanese family with ocular albinism. ( 26061757 )
2015
18
Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review. ( 26622141 )
2015
19
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
20
Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. ( 25601010 )
2015
21
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
22
Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. ( 24526317 )
2014
23
Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview. ( 24962442 )
2014
24
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. ( 25373814 )
2014
25
The cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1. ( 25185585 )
2014
26
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion. ( 24478262 )
2014
27
Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. ( 24736838 )
2014
28
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. ( 24301936 )
2013
29
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. ( 22916221 )
2012
30
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137 )
2011
31
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. ( 20649618 )
2010
32
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21274678 )
2010
33
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21348135 )
2010
34
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. ( 20806075 )
2010
35
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
36
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. ( 19139336 )
2009
37
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. ( 19604113 )
2009
38
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. ( 19123159 )
2009
39
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. ( 20006830 )
2009
40
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. ( 19938076 )
2009
41
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ( 19208379 )
2009
42
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. ( 19610097 )
2009
43
Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. ( 18424845 )
2008
44
Retinal function in X-linked ocular albinism (OA1). ( 18798082 )
2008
45
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. ( 18978956 )
2008
46
X-Linked ocular albinism; Nettleship-Falls ocular albinism. ( 18627740 )
2008
47
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. ( 18697795 )
2008
48
Protracted micro-nystagmus induced by video game play in a patient with mild ocular albinism. ( 18811587 )
2008
49
Images in clinical medicine. Horizontal pendular nystagmus in a patient with ocular albinism. ( 18669422 )
2008
50
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. ( 18326704 )
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 TYRP1 NM_000550.2(TYRP1): c.670C> T (p.His224Tyr) single nucleotide variant Likely pathogenic rs1057518841 GRCh37 Chromosome 9, 12695799: 12695799
4 TYRP1 NM_000550.2(TYRP1): c.670C> T (p.His224Tyr) single nucleotide variant Likely pathogenic rs1057518841 GRCh38 Chromosome 9, 12695799: 12695799
5 TYRP1 NM_000550.2(TYRP1): c.1133A> G (p.Asn378Ser) single nucleotide variant Likely pathogenic rs771055145 GRCh37 Chromosome 9, 12704577: 12704577
6 TYRP1 NM_000550.2(TYRP1): c.1133A> G (p.Asn378Ser) single nucleotide variant Likely pathogenic rs771055145 GRCh38 Chromosome 9, 12704577: 12704577
7 TYR NM_000372.4(TYR): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs1057518763 GRCh37 Chromosome 11, 88911195: 88911195
8 TYR NM_000372.4(TYR): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs1057518763 GRCh38 Chromosome 11, 89178027: 89178027
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 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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