OA
MCID: OCL001
MIFTS: 50

Ocular Albinism (OA)

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

Aliases & Classifications for Ocular Albinism

MalaCards integrated aliases for Ocular Albinism:

Name: Ocular Albinism 12 74 25 58 36 29 6 15
Albinism, Ocular 74 25 43 39
Oa 25 3
Albinism Ocular 54
Xloa 25

Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050633
KEGG 36 H00169
MeSH 43 D016117
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C0078917
Orphanet 58 ORPHA284804

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. 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 albinism, ocular, with sensorineural deafness. 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 nystagmus and visual impairment

Disease Ontology : 12 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.

CDC : 3 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.

KEGG : 36 Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II is an autosomal recessive ocular albinism.

Wikipedia : 74 Albinism is the "congenital absence of any pigmentation or coloration in a person, animal or plant,... 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 267)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with late-onset sensorineural deafness 34.3 TYR MITF
2 albinism, ocular, with sensorineural deafness 34.3 TYR MITF
3 aland island eye disease 33.6 GPR143 GK CACNA1F
4 albinism, oculocutaneous, type ib 32.5 TYRP1 TYR SLC45A2 OCA2 GPR143
5 albinism, oculocutaneous, type vii 32.4 SLC45A2 OCA2 GPR143
6 albinism, oculocutaneous, type ii 32.1 TYRP1 TYR SLC45A2 OCA2 HPS6 HPS4
7 albinism, oculocutaneous, type iv 32.0 TYRP1 TYR SLC45A2 OCA2 GPR143
8 congenital nystagmus 31.2 TYR RECK OCA2 GPR143
9 albinism 31.1 TYRP1 TYR SLC45A2 OCA2 OA3 MITF
10 waardenburg's syndrome 30.7 TYRP1 TYR MITF
11 albinism, oculocutaneous, type ia 30.7 TYRP1 TYR SLC45A2 OCA2 GPR143
12 pathologic nystagmus 30.6 TYRP1 TYR SLC45A2 OCA2 HPS6 GPR143
13 dowling-degos disease 1 30.5 TYRP1 TYR MITF
14 ochronosis 30.4 TYRP1 TYR MITF
15 eye disease 30.3 TYR MITF GK CACNA1F CABP4
16 waardenburg syndrome, type 2e 30.2 TYR MITF
17 tietz albinism-deafness syndrome 30.0 TYRP1 TYR SLC45A2 OCA2 MITF
18 melanoma 29.8 TYRP1 TYR SLC45A2 OCA2 MLANA MITF
19 oculocutaneous albinism 29.6 TYRP1 TYR SLC45A2 OCA2 MITF HPS6
20 hermansky-pudlak syndrome 29.4 TYRP1 TYR SLC45A2 OCA2 HPS6 HPS4
21 ocular albinism, x-linked 12.8
22 albinism, ocular, type i 12.5
23 oculocutaneous or ocular albinism 12.3
24 osteoarthritis 12.3
25 esophageal atresia 11.9
26 microphthalmia with limb anomalies 11.6
27 anophthalmos with limb anomalies 11.6
28 autoimmune inner ear disease 11.3
29 chediak-higashi syndrome 11.2
30 albinism-deafness syndrome 11.2
31 nystagmus 1, congenital, x-linked 11.2
32 xp22.3 microdeletion syndrome 11.2
33 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 11.2
34 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.2
35 wolfram syndrome 11.2
36 exostosis 10.5
37 strabismus 10.5
38 mechanical strabismus 10.5
39 malignant ciliary body melanoma 10.5 TYR MLANA
40 night blindness, congenital stationary, type 1c 10.5 CACNA1F CABP4
41 ciliary body cancer 10.5 TYR MLANA
42 halo nevi 10.5 TYR MLANA
43 lentigo maligna melanoma 10.4 MLANA MITF
44 melanoacanthoma 10.4 TYR MLANA
45 synovitis 10.4
46 abnormal threshold of rods 10.4 CACNA1F CABP4
47 diffuse meningeal melanocytosis 10.4 TYR MLANA
48 sarcomatoid transitional cell carcinoma 10.4 TYR MLANA
49 uterus perivascular epithelioid cell tumor 10.4 MLANA MITF
50 syndromic oculocutaneous albinism 10.4 OCA2 HPS6

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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
3 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
4 ocular albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001107
5 astigmatism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000483
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 aplasia/hypoplasia of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0008059
8 miosis 58 31 frequent (33%) Frequent (79-30%) HP:0000616
9 nyctalopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000662
10 iris hypopigmentation 58 Very frequent (99-80%)
11 abnormal pupillary function 58 Frequent (79-30%)

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

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.74 MITF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.74 MITF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.74 MITF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.74 GPBAR1 GPR143 HPS6 MITF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.74 GPBAR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.74 GPBAR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.74 GPR143
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 HPS6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.74 HPS6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.74 GPR143
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.74 MITF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.74 MITF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.74 GPBAR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.74 GPR143
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.74 HPS6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.74 HPS6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.74 GPR143
18 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.74 GPBAR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 GPBAR1 HPS6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.74 HPS6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.74 GPR143
22 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.74 HPS6
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.65 CABP4
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.65 CABP4
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.65 CABP4 HPS6 MITF
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.65 HPS6
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.65 CABP4
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.65 MITF
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.65 HPS6
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.65 MITF

MGI Mouse Phenotypes related to Ocular Albinism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.96 AP3D1 HPS4 HPS6 MITF MLANA OCA2
2 hearing/vestibular/ear MP:0005377 9.87 AP3D1 HPS4 HPS6 MITF OCA2 TYR
3 pigmentation MP:0001186 9.85 AP3D1 GPR143 HPS4 HPS6 MITF MLANA
4 renal/urinary system MP:0005367 9.56 AP3D1 CLCN4 GPBAR1 HPS4 HPS6 MITF
5 vision/eye MP:0005391 9.4 AP3D1 CABP4 CACNA1F GPR143 HPS4 HPS6

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 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
3 Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism Recruiting NCT00808106
4 Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children Not yet recruiting NCT03959605

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 29

Anatomical Context for Ocular Albinism

MalaCards organs/tissues related to Ocular Albinism:

40
Eye, Skin, Retina, Brain, Bone, Thymus, Testes

Publications for Ocular Albinism

Articles related to Ocular Albinism:

(show top 50) (show all 359)
# 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. 61 54
19717472 2009
2
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 61 54
19604113 2009
3
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. 61 54
19123159 2009
4
Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation. 54 61
18378571 2008
5
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. 61 54
18978956 2008
6
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. 61 54
17920058 2007
7
New mutations identified in the ocular albinism type 1 gene. 54 61
17822861 2007
8
Identification of two novel mutations in families with X-linked ocular albinism. 61 54
17960122 2007
9
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. 61 54
17516023 2007
10
An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1. 54 61
16621890 2006
11
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. 54 61
16550551 2006
12
The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. 61 54
16524428 2006
13
Eight previously unidentified mutations found in the OA1 ocular albinism gene. 54 61
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. 61 54
16023414 2005
15
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. 54 61
16029416 2005
16
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. 54 61
15254223 2004
17
Mutational analysis of the OA1 gene in ocular albinism. 54 61
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. 54 61
12515581 2003
19
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 61 54
11793467 2002
20
Ocular albinism type 1: more than meets the eye. 61 54
11549106 2001
21
The mouse ocular albinism 1 gene product is an endolysosomal protein. 54 61
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. 61 54
11405065 2001
23
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 54 61
11214907 2001
24
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 61 54
11115845 2000
25
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. 61 54
11092754 2000
26
Ocular albinism: evidence for a defect in an intracellular signal transduction system. 54 61
10471510 1999
27
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. 54 61
10330347 1999
28
Detection of KAL-1 gene deletion with fluorescence in situ hybridization. 61 54
10443071 1999
29
OA1 mutations and deletions in X-linked ocular albinism. 54 61
9529334 1998
30
Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. 61 54
9640203 1998
31
Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. 61 54
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. 61 54
8889556 1996
33
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. 61 54
8799153 1996
34
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. 54 61
8634705 1995
35
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. 61 54
7647783 1995
36
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. 61 54
7795590 1995
37
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 61 54
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. 54 61
8230160 1993
39
Linkage analysis in X-linked ocular albinism. 61 54
1674724 1991
40
Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis. 61 54
1979048 1990
41
Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. 54 61
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. 61 54
2159212 1990
43
X-linked ocular albinism: mapping and cloning the gene. 61
31836092 2019
44
Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations. 61
31574285 2019
45
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II]. 61
31813138 2019
46
Clinical and genetic variability in children with partial albinism. 61
31719542 2019
47
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. 61
31746431 2019
48
Immunoreactivity of a G protein-coupled l-DOPA receptor GPR143, in Lewy bodies. 61
30590075 2019
49
Recovery of stereopsis after strabismus surgery in X-linked ocular albinism. 61
31712039 2019
50
Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells. 61
31606330 2019

Variations for Ocular Albinism

ClinVar genetic disease variations for Ocular Albinism:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg)SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218
2 TYR NM_000372.5(TYR):c.74dup (p.Ser26fs)duplication Pathogenic 373911 rs1057518763 11:88911195-88911195 11:89178027-89178027
3 TYRP1 NM_000550.3(TYRP1):c.670C>T (p.His224Tyr)SNV Likely pathogenic 374021 rs1057518841 9:12695799-12695799 9:12695799-12695799
4 TYRP1 NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser)SNV Likely pathogenic 374020 rs771055145 9:12704577-12704577 9:12704577-12704577
5 GPR143 NM_000273.3(GPR143):c.12_36del (p.Leu6fs)deletion Likely pathogenic 373941 rs1057518787 X:9733822-9733846 X:9765782-9765806
6 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)SNV Likely pathogenic 523363 rs376823382 11:89018108-89018108 11:89284940-89284940

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 9.62 TYRP1 TYR SLC45A2 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 membrane GO:0016020 10.16 TYRP1 TYR STS SLC45A2 SHROOM2 RECK
2 lysosomal membrane GO:0005765 9.67 OCA2 HPS6 GPR143 AP3D1
3 endosome membrane GO:0010008 9.62 TYRP1 OCA2 CLCN4 AP3D1
4 lysosome GO:0005764 9.55 TYR STS HPS6 HPS4 GPR143
5 melanosome GO:0042470 9.35 TYRP1 TYR MLANA HPS4 GPR143
6 melanosome membrane GO:0033162 9.02 TYRP1 TYR SLC45A2 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 9.77 TYR SLC45A2 GPR143 CACNA1F CABP4
2 melanosome organization GO:0032438 9.56 TYRP1 SHROOM2 GPR143 AP3D1
3 eye pigment biosynthetic process GO:0006726 9.5 TYR OCA2 GPR143
4 protein localization to membrane GO:0072657 9.46 HPS6 AP3D1
5 melanin biosynthetic process GO:0042438 9.46 TYRP1 TYR SLC45A2 OCA2
6 organelle organization GO:0006996 9.43 HPS6 HPS4
7 developmental pigmentation GO:0048066 9.4 SLC45A2 OCA2
8 pigmentation GO:0043473 9.35 TYRP1 TYR OCA2 MITF HPS6
9 melanocyte differentiation GO:0030318 9.02 TYRP1 OCA2 MITF HPS6 HPS4

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

# Name GO ID Score Top Affiliating Genes
1 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Ocular Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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