OA
MCID: OCL001
MIFTS: 43

Ocular Albinism (OA)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ocular Albinism

MalaCards integrated aliases for Ocular Albinism:

Name: Ocular Albinism 11 42 58 75 28 5 14
Albinism, Ocular 42 75 43
Oa 42 2
Albinism Ocular 53
Xloa 42

Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0050633
MeSH 43 D016117
ICD10 via Orphanet 32 E70.3
UMLS via Orphanet 72 C0078917
Orphanet 58 ORPHA284804

Summaries for Ocular Albinism

MedlinePlus Genetics: 42 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.Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor.The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.

MalaCards based summary: Ocular Albinism, also known as albinism, ocular, is related to albinism, ocular, with late-onset sensorineural deafness and aland island eye disease. An important gene associated with Ocular Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are "Valproic Acid Pathway, Pharmacodynamics" and GPR143 in melanocytes and retinal pigment epithelium cells. 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)

CDC: 2 Osteoarthritis (OA) is the most common form of arthritis. Some people call it degenerative joint disease or "wear and tear" arthritis. It occurs most frequently in the hands, hips, and knees. With OA, the cartilage within a joint begins to break down and the underlying bone begins to change. These changes usually develop slowly and get worse over time. OA can cause pain, stiffness, and swelling. In some cases it also causes reduced function and disability; some people are no longer able to do daily tasks or work.

Disease Ontology: 11 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 75 Ocular albinism: Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily... more...

Albinism, ocular: Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers,... 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 178)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with late-onset sensorineural deafness 33.0 TYR MITF
2 aland island eye disease 32.7 GPR143 GK CACNA1F
3 albinism, oculocutaneous, type ii 32.0 TYRP1 TYR OCA2
4 albinism, oculocutaneous, type iv 31.8 TYRP1 TYR OCA2 GPR143
5 pathologic nystagmus 31.6 OCA2 GPR143 CACNA1F
6 albinism 31.2 TYRP1 TYR SHROOM2 OCA2 OA3 MITF
7 congenital nystagmus 31.1 RECK OCA2 GPR143 CACNA1F
8 albinism, oculocutaneous, type ia 31.0 TYRP1 TYR OCA2
9 oculocutaneous albinism 30.8 TYRP1 TYR OCA2 MITF
10 melanoma, cutaneous malignant 8 30.7 TYR MITF
11 albinism, oculocutaneous, type ib 30.6 TYRP1 TYR OCA2 GPR143
12 hermansky-pudlak syndrome 30.2 TYRP1 TYR OCA2 GPR143 BLOC1S1
13 skin carcinoma 30.2 TYRP1 TYR MLANA MITF
14 microphthalmia 30.0 TYRP1 TYR MLANA MITF
15 waardenburg's syndrome 30.0 TYRP1 TYR OCA2 MITF BLOC1S1
16 waardenburg syndrome, type 2a 30.0 TYRP1 TYR MITF BLOC1S1
17 dowling-degos disease 1 30.0 TYRP1 TYR MITF
18 tietz albinism-deafness syndrome 30.0 TYRP1 TYR MITF
19 chediak-higashi syndrome 30.0 TYRP1 TYR BLOC1S1
20 waardenburg syndrome, type 2e 29.9 TYR MITF
21 piebald trait 29.7 TYRP1 TYR OCA2 MITF BLOC1S1
22 eye disease 29.6 TYRP1 TYR NR2E3 MITF GPR143 GK
23 albinism, oculocutaneous, type iii 29.6 TYRP1 TYR OCA2 LURAP1L-AS1 GPR143 BLOC1S1
24 albinism, ocular, type i 11.9
25 oculocerebral hypopigmentation syndrome of preus 11.2
26 albinism-deafness syndrome 11.2
27 oculocutaneous or ocular albinism 11.1
28 nystagmus 1, congenital, x-linked 11.0
29 albinism, oculocutaneous, type vii 11.0
30 rud syndrome 11.0
31 dilution, pigmentary 10.7
32 strabismus 10.5
33 perivascular epithelioid cell tumor 10.3 MLANA MITF
34 ciliary body cancer 10.3 TYR MLANA
35 melanoacanthoma 10.3 TYR MLANA
36 acanthoma 10.3 TYR MLANA
37 diffuse meningeal melanocytosis 10.3 TYR MLANA
38 nystagmus 3, congenital, autosomal dominant 10.3 TYR GPR143
39 meningeal melanomatosis 10.3 TYR MLANA
40 malignant leptomeningeal tumor 10.3 MLANA MITF
41 meningeal melanoma 10.3 MLANA MITF
42 central nervous system melanocytic neoplasm 10.3 TYR MLANA
43 ichthyosis 10.3
44 sarcomatoid transitional cell carcinoma 10.2 TYR MLANA
45 astigmatism 10.2 SUCLG2 GPR143 CACNA1F
46 pigmented basal cell carcinoma 10.2 MLANA MITF
47 hepatic angiomyolipoma 10.2 MLANA MITF
48 epithelioid type angiomyolipoma 10.2 MLANA MITF
49 skin/hair/eye pigmentation, variation in, 3 10.2
50 sensorineural hearing loss 10.2

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



Diseases related to Ocular Albinism

Symptoms & Phenotypes for Ocular Albinism

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

25 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.74 GPR143
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.74 GPR143
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.74 MITF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.74 MITF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.74 GPR143
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.74 GPR143
7 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.74 GPBAR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.74 GPBAR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.74 MITF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.74 GPR143
11 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.74 GPR143
12 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.74 GPR143
13 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.74 GPR143
14 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.74 MITF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.74 GPR143
16 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.74 GPBAR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.74 MITF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.74 MITF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.74 GPBAR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.74 GPR143
21 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.74 GPR143
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.74 GPBAR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 GPBAR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.74 MITF
25 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.74 GPBAR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.74 GPR143

MGI Mouse Phenotypes related to Ocular Albinism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.7 BLOC1S1 GPR143 MITF MLANA OCA2 TYR
2 cellular MP:0005384 9.7 BLOC1S1 CACNA1F GK GPRC6A MITF NR2E3
3 vision/eye MP:0005391 9.32 BLOC1S1 CACNA1F GPR143 MITF NR2E3 OCA2

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 5281243

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Placebo-controlled Trial to Investigate the Effect of Lutein and Zeaxanthin Supplementation on Macular Pigment and Visual Function in Albinism - LUtein for VIsion in Albinism (LUVIA) Completed NCT02200263
2 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
3 Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children Completed NCT03959605
4 Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism Recruiting NCT04495218

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 28

Anatomical Context for Ocular Albinism

Organs/tissues related to Ocular Albinism:

MalaCards : Eye, Skin, Retina, Bone, Thymus, Brain

Publications for Ocular Albinism

Articles related to Ocular Albinism:

(show top 50) (show all 394)
# Title Authors PMID Year
1
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. 53 62
19717472 2009
2
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 53 62
19604113 2009
3
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. 53 62
19123159 2009
4
Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation. 53 62
18378571 2008
5
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. 53 62
18978956 2008
6
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. 53 62
17920058 2007
7
New mutations identified in the ocular albinism type 1 gene. 53 62
17822861 2007
8
Identification of two novel mutations in families with X-linked ocular albinism. 53 62
17960122 2007
9
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. 53 62
17516023 2007
10
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. 53 62
16550551 2006
11
An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1. 53 62
16621890 2006
12
The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. 53 62
16524428 2006
13
Eight previously unidentified mutations found in the OA1 ocular albinism gene. 53 62
16646960 2006
14
Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. 53 62
16023414 2005
15
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. 53 62
16029416 2005
16
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. 53 62
15254223 2004
17
Mutational analysis of the OA1 gene in ocular albinism. 53 62
12868035 2003
18
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. 53 62
12515581 2003
19
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 53 62
11793467 2002
20
Ocular albinism type 1: more than meets the eye. 53 62
11549106 2001
21
The mouse ocular albinism 1 gene product is an endolysosomal protein. 53 62
11180981 2001
22
X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. 53 62
11405065 2001
23
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 53 62
11214907 2001
24
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 53 62
11115845 2000
25
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. 53 62
11092754 2000
26
Ocular albinism: evidence for a defect in an intracellular signal transduction system. 53 62
10471510 1999
27
Detection of KAL-1 gene deletion with fluorescence in situ hybridization. 53 62
10443071 1999
28
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. 53 62
10330347 1999
29
Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. 53 62
9640203 1998
30
OA1 mutations and deletions in X-linked ocular albinism. 53 62
9529334 1998
31
Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. 53 62
8921399 1996
32
Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. 53 62
8889556 1996
33
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. 53 62
8799153 1996
34
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. 53 62
8634705 1995
35
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. 53 62
7647783 1995
36
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. 53 62
7795590 1995
37
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 53 62
8302318 1994
38
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. 53 62
8230160 1993
39
Linkage analysis in X-linked ocular albinism. 53 62
1674724 1991
40
Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis. 53 62
1979048 1990
41
Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. 53 62
2280973 1990
42
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. 53 62
2159212 1990
43
Macular Findings in Carriers of Ocular Albinism With a Novel GPR143 Mutation. 62
35951714 2022
44
Consanguinity and ocular disorders in India: Electronic medical records driven big data analytics. 62
35791120 2022
45
Refractive development in individuals with ocular and oculocutaneous albinism. 62
35587842 2022
46
Long-term vision outcomes for patients with albinism and diabetic retinopathy. 62
35072785 2022
47
Choroidal and retinal thickness variations in ocular albinism. 62
35791146 2022
48
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. 62
35157951 2022
49
CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient. 62
35686978 2022
50
The retinal pigmentation pathway in human albinism: Not so black and white. 62
35729001 2022

Variations for Ocular Albinism

ClinVar genetic disease variations for Ocular Albinism:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TYR NM_000372.5(TYR):c.74dup (p.Ser26fs) DUP Pathogenic
373911 rs1057518763 GRCh37: 11:88911194-88911195
GRCh38: 11:89178026-89178027
2 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg) SNV Pathogenic
3781 rs28940877 GRCh37: 11:88911386-88911386
GRCh38: 11:89178218-89178218
3 NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic
191059 rs2723341 GRCh37: 15:72103821-72103821
GRCh38: 15:71811481-71811481
4 LURAP1L-AS1, TYRP1 NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser) SNV Likely Pathogenic
374020 rs771055145 GRCh37: 9:12704577-12704577
GRCh38: 9:12704577-12704577
5 GPR143 NM_000273.3(GPR143):c.12_36del (p.Leu6fs) DEL Likely Pathogenic
373941 rs1057518787 GRCh37: X:9733822-9733846
GRCh38: X:9765782-9765806
6 TYRP1 NM_000550.3(TYRP1):c.670C>T (p.His224Tyr) SNV Likely Pathogenic
374021 rs1057518841 GRCh37: 9:12695799-12695799
GRCh38: 9:12695799-12695799
7 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) SNV Likely Pathogenic
523363 rs376823382 GRCh37: 11:89018108-89018108
GRCh38: 11:89284940-89284940
8 AP3D1 NM_001261826.3(AP3D1):c.2516A>G (p.Lys839Arg) SNV Uncertain Significance
1703816 GRCh37: 19:2114209-2114209
GRCh38: 19:2114210-2114210

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.5 SUCLG2 CACNA1F
2 10.47 TYRP1 TYR MLANA MITF GPR143
3 9.83 TYRP1 TYR OCA2

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 lysosome GO:0005764 9.63 TYR STS GPR143 CLCN4 BLOC1S1
2 melanosome GO:0042470 9.56 TYRP1 TYR MLANA GPR143
3 melanosome membrane GO:0033162 9.23 TYRP1 TYR OCA2 GPR143

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10.01 TYR NR2E3 GPR143 CACNA1F
2 melanocyte differentiation GO:0030318 9.8 TYRP1 OCA2 MITF
3 melanin biosynthetic process GO:0042438 9.73 OCA2 TYR TYRP1
4 melanosome organization GO:0032438 9.56 TYRP1 SHROOM2 GPR143 BLOC1S1
5 pigmentation GO:0043473 9.55 TYRP1 TYR OCA2 MITF
6 melanin biosynthetic process from tyrosine GO:0006583 9.54 TYR OCA2
7 eye pigment biosynthetic process GO:0006726 9.02 TYR OCA2 GPR143

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

# Name GO ID Score Top Affiliating Genes
1 tyrosinase activity GO:0004503 8.92 TYRP1 TYR

Sources for Ocular Albinism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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