MCID: OCL001
MIFTS: 46

Ocular Albinism

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

Aliases & Classifications for Ocular Albinism

MalaCards integrated aliases for Ocular Albinism:

Name: Ocular Albinism 12 72 24 36 28 14
Albinism, Ocular 72 24
Oa 24 3
Albinism Ocular 51
Xloa 24

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, type i and albinism, ocular, with sensorineural deafness, 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 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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 : 72 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 95)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, type i 33.7 GPR143 TYR
2 albinism, ocular, with sensorineural deafness 33.6 MITF TYR
3 albinism 30.3 GPR143 MITF OCA2 SLC45A2 TYR
4 dowling-degos disease 1 30.0 MITF TYR
5 congenital nystagmus 29.6 GPR143 OCA2 TYR
6 oculocutaneous albinism 29.3 OCA2 SLC45A2 TYR
7 ocular albinism, x-linked 12.5
8 albinism, ocular, with late-onset sensorineural deafness 12.1
9 osteoarthritis 11.9
10 aland island eye disease 11.7
11 microphthalmia with limb anomalies 11.3
12 anophthalmos with limb anomalies 11.2
13 esophageal atresia 11.2
14 autoimmune inner ear disease 11.2
15 albinism, oculocutaneous, type ii 10.9
16 albinism-deafness syndrome 10.9
17 nystagmus 1, congenital, x-linked 10.9
18 albinism, oculocutaneous, type ib 10.9
19 xp22.3 microdeletion syndrome 10.9
20 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 10.9
21 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.9
22 wolfram syndrome 10.9
23 osteoarthritis with mild chondrodysplasia 10.4
24 skin/hair/eye pigmentation, variation in, 3 10.3 MITF TYR
25 pigmented basal cell carcinoma 10.3 MITF TYR
26 epithelioid cell melanoma 10.3 MITF TYR
27 malignant spindle cell melanoma 10.3 MITF TYR
28 breast angiosarcoma 10.3 MITF TYR
29 tietz albinism-deafness syndrome 10.3 MITF TYR
30 pigmentation disease 10.3 MITF TYR
31 hermansky-pudlak syndrome 3 10.2 MITF TYR
32 lentigines 10.2 MITF TYR
33 angiomyolipoma 10.1 MITF TYR
34 episodic pain syndrome, familial, 1 10.1
35 integumentary system cancer 10.1 MITF TYR
36 retinitis 10.1
37 acute contagious conjunctivitis 10.1 OCA2 TYR
38 rheumatoid arthritis 10.0
39 arthritis 10.0
40 neuronitis 10.0
41 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 MITF TYR
42 blood group, i system 10.0
43 branchiootic syndrome 1 10.0
44 microphthalmia 10.0
45 dyschromatosis symmetrica hereditaria 10.0 MITF OCA2 TYR
46 hepatitis 9.9
47 hepatitis b 9.9
48 enthesopathy 9.9
49 ichthyosis 9.9
50 kallmann syndrome 9.9

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 astigmatism 31 hallmark (90%) HP:0000483
2 strabismus 31 frequent (33%) HP:0000486
3 visual impairment 31 hallmark (90%) HP:0000505
4 photophobia 31 hallmark (90%) HP:0000613
5 miosis 31 frequent (33%) HP:0000616
6 nystagmus 31 hallmark (90%) HP:0000639
7 nyctalopia 31 occasional (7.5%) HP:0000662
8 ocular albinism 31 hallmark (90%) HP:0001107
9 aplasia/hypoplasia of the macula 31 frequent (33%) HP:0008059

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

25 (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-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:

43
# 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Investigational, Nutraceutical 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
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 28

Anatomical Context for Ocular Albinism

MalaCards organs/tissues related to Ocular Albinism:

38
Eye, Skin, Retina, Bone, Testes, Brain

Publications for Ocular Albinism

Articles related to Ocular Albinism:

(show top 50) (show all 164)
# Title Authors Year
1
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
2
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. ( 28211458 )
2017
3
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. ( 28632878 )
2017
4
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
5
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
6
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
7
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ( 28234808 )
2017
8
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
9
[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism]. ( 28397224 )
2017
10
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. ( 27462254 )
2016
11
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
12
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
13
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. ( 27607449 )
2016
14
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. ( 27344970 )
2016
15
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. ( 27225848 )
2016
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
Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. ( 25601010 )
2015
19
Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review. ( 26622141 )
2015
20
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. ( 25373814 )
2014
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
Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. ( 24736838 )
2014
23
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion. ( 24478262 )
2014
24
Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview. ( 24962442 )
2014
25
The cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1. ( 25185585 )
2014
26
Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. ( 24526317 )
2014
27
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. ( 24301936 )
2013
28
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. ( 22916221 )
2012
29
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137 )
2011
30
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. ( 20649618 )
2010
31
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21348135 )
2010
32
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21274678 )
2010
33
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. ( 20806075 )
2010
34
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. ( 19139336 )
2009
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
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. ( 19604113 )
2009
37
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ( 19208379 )
2009
38
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. ( 19938076 )
2009
39
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. ( 19610097 )
2009
40
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. ( 19123159 )
2009
41
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. ( 20006830 )
2009
42
Retinal function in X-linked ocular albinism (OA1). ( 18798082 )
2008
43
Images in clinical medicine. Horizontal pendular nystagmus in a patient with ocular albinism. ( 18669422 )
2008
44
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. ( 18697795 )
2008
45
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. ( 18326704 )
2008
46
Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. ( 18424845 )
2008
47
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. ( 18978956 )
2008
48
Protracted micro-nystagmus induced by video game play in a patient with mild ocular albinism. ( 18811587 )
2008
49
X-Linked ocular albinism; Nettleship-Falls ocular albinism. ( 18627740 )
2008
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
# 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 KEGG:

36
# 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 9.5 OCA2 SLC45A2 TYR

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 melanosome membrane GO:0033162 8.92 GPR143 OCA2 SLC45A2 TYR

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 camera-type eye development GO:0043010 9.43 MITF SHROOM2
3 melanosome organization GO:0032438 9.37 GPR143 SHROOM2
4 pigmentation GO:0043473 9.33 MITF OCA2 TYR
5 melanocyte differentiation GO:0030318 9.32 MITF OCA2
6 developmental pigmentation GO:0048066 9.26 OCA2 SLC45A2
7 melanin biosynthetic process GO:0042438 9.13 OCA2 SLC45A2 TYR
8 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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