Ocular Albinism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

Sources

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:

Sources

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

Sources

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
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

Sources

Genetic Tests for Ocular Albinism

Genetic tests related to Ocular Albinism:

#	Genetic test	Affiliating Genes
1	Ocular Albinism ²⁸

Sources

Anatomical Context for Ocular Albinism

Organs/tissues related to Ocular Albinism:

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

Sources

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	Giordano F...Raposo G	19717472	2009
2	GPR143 mutational analysis in two Italian families with X-linked ocular albinism. ⁵³ ⁶²	Micale L...Merla G	19604113	2009
3	Identification of a novel mutation in a Chinese family with X-linked ocular albinism. ⁵³ ⁶²	Wang Y...Lian S	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	Young A...Farber DB	18378571	2008
5	Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. ⁵³ ⁶²	Fang S...Zhang Q	18978956	2008
6	The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. ⁵³ ⁶²	Sone M...Orlow SJ	17920058	2007
7	New mutations identified in the ocular albinism type 1 gene. ⁵³ ⁶²	Roma C...Zollo M	17822861	2007
8	Identification of two novel mutations in families with X-linked ocular albinism. ⁵³ ⁶²	Iannaccone A...Sidjanin DJ	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	Liu JY...Wang QK	17516023	2007
10	Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. ⁵³ ⁶²	Vetrini F...Marigo V	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	Piccirillo R...Schiaffino MV	16621890	2006
12	The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. ⁵³ ⁶²	Innamorati G...Schiaffino MV	16524428	2006
13	Eight previously unidentified mutations found in the OA1 ocular albinism gene. ⁵³ ⁶²	Mayeur H...Abitbol M	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	Surace EM...Auricchio A	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	Schiaffino MV...Tacchetti C	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	Vetrini F...Marigo V	15254223	2004
17	Mutational analysis of the OA1 gene in ocular albinism. ⁵³ ⁶²	Camand O...Abitbol M	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	Faugere V...Claustres M	12515581	2003
19	New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. ⁵³ ⁶²	Oetting WS	11793467	2002
20	Ocular albinism type 1: more than meets the eye. ⁵³ ⁶²	Shen B...Orlow SJ	11549106	2001
21	The mouse ocular albinism 1 gene product is an endolysosomal protein. ⁵³ ⁶²	Samaraweera P...Orlow SJ	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	Rudolph G...Meitinger T	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	Bassi MT...Schiaffino MV	11214907	2001
24	Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. ⁵³ ⁶²	d'Addio M...Schiaffino MV	11115845	2000
25	Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. ⁵³ ⁶²	Incerti B...Ballabio A	11092754	2000
26	Ocular albinism: evidence for a defect in an intracellular signal transduction system. ⁵³ ⁶²	Schiaffino MV...Ballabio A	10471510	1999
27	Detection of KAL-1 gene deletion with fluorescence in situ hybridization. ⁵³ ⁶²	Hou JW...Wang TR	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	Bassi MT...Borsani G	10330347	1999
29	Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. ⁵³ ⁶²	Tijmes NT...De Jong PT	9640203	1998
30	OA1 mutations and deletions in X-linked ocular albinism. ⁵³ ⁶²	Schnur RE...Weleber RG	9529334	1998
31	Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. ⁵³ ⁶²	Newton JM...Barsh GS	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	Bassi MT...Ballabio A	8889556	1996
33	The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. ⁵³ ⁶²	Schiaffino MV...Ballabio A	8799153	1996
34	Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. ⁵³ ⁶²	Schiaffino MV...Meindl A	8634705	1995
35	Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. ⁵³ ⁶²	Bassi MT...Ballabio A	7647783	1995
36	Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. ⁵³ ⁶²	Schiaffino MV...Ballabio A	7795590	1995
37	Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. ⁵³ ⁶²	Lee ST...Spritz RA	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	Meindl A...Meitinger T	8230160	1993
39	Linkage analysis in X-linked ocular albinism. ⁵³ ⁶²	Schnur RE...Musarella MA	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	Schnur RE...Nussbaum RL	1979048	1990
41	Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. ⁵³ ⁶²	Bergen AA...Bleeker-Wagemakers EM	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	Pillers DA...Buist NR	2159212	1990
43	Macular Findings in Carriers of Ocular Albinism With a Novel GPR143 Mutation. ⁶²	Nanda T...Baumal CR	35951714	2022
44	Consanguinity and ocular disorders in India: Electronic medical records driven big data analytics. ⁶²	Rauniyar D...Das AV	35791120	2022
45	Refractive development in individuals with ocular and oculocutaneous albinism. ⁶²	Verkicharla P...Das AV	35587842	2022
46	Long-term vision outcomes for patients with albinism and diabetic retinopathy. ⁶²	Murphy DC...Wickham L	35072785	2022
47	Choroidal and retinal thickness variations in ocular albinism. ⁶²	Venkatesh R...Chhablani J	35791146	2022
48	Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. ⁶²	Kuht HJ...Thomas MG	35157951	2022
49	CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient. ⁶²	Torriano S...Farber DB	35686978	2022
50	The retinal pigmentation pathway in human albinism: Not so black and white. ⁶²	Bakker R...Bergen AA	35729001	2022

Sources

Genes for Ocular Albinism

Genes related to Ocular Albinism (2 elite genes):

(show all 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TYR	Tyrosinase	Protein Coding	441.68	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8302318
2	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	403.25	Pathogenic ⁵ DISEASES inferred ¹⁴
3	GPR143	G Protein-Coupled Receptor 143	Protein Coding	87.02	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Summaries Domains & Families (show sections)	8634705 17960122 8889556 (more) 11115845 2280973 11180981 12868035 19717472 17920058 8921399 12515581 17516023 11214907 19604113 9529334 11793467 7795590 18378571 7647783 16524428 11092754 18978956 10471510 8230160 16023414 11549106 11405065 16646960 17822861 16029416 16621890 9640203 19123159 16550551 8799153 10330347
4	TYRP1	Tyrosinase Related Protein 1	Protein Coding	32.4	Likely pathogenic ⁵ DISEASES inferred ¹⁴
5	LURAP1L-AS1	LURAP1L Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁵
6	SHROOM2	Shroom Family Member 2	Protein Coding	24.23	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
7	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	22.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
8	CLCN4	Chloride Voltage-Gated Channel 4	Protein Coding	21.59	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
9	OA3	Ocular Albinism 3 (Autosomal Recessive)	Uncategorized	18	GeneCards inferred via : Publications Gene name (show sections)
10	RECK	Reversion Inducing Cysteine Rich Protein With Kazal Motifs	Protein Coding	16.69	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8799153 16524428 19604113 (more) 12515581 10471510
11	OCA2	OCA2 Melanosomal Transmembrane Protein	Protein Coding	15.72	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	GK	Glycerol Kinase	Protein Coding	15.53	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2159212
13	GPBAR1	G Protein-Coupled Bile Acid Receptor 1	Protein Coding	14.72	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10471510
14	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	14.59	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15254223
15	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	14.25	DISEASES inferred ¹⁴ GeneCards inferred via : Gene name (show sections)
16	STS	Steroid Sulfatase	Protein Coding	13.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1674724 1979048 10443071
17	MLANA	Melan-A	Protein Coding	12.48	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	SUCLG2	Succinate-CoA Ligase GDP-Forming Subunit Beta	Protein Coding	11.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	BLOC1S1	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1	Protein Coding	10.98	DISEASES inferred ¹⁴ ¹⁴
20	GPRC6A	G Protein-Coupled Receptor Class C Group 6 Member A	Protein Coding	10.06	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	OASD	Ocular Albinism And Sensorineural Deafness	Genetic Locus	8.54	GeneCards inferred via : Gene name (show sections)
22	FRMD7	FERM Domain Containing 7	Protein Coding	8	DISEASES inferred ¹⁴
23	GPR143P	G Protein-Coupled Receptor 143 Pseudogene	Pseudogene	8	GeneCards inferred via : Gene name (show sections)
24	SLC24A5	Solute Carrier Family 24 Member 5	Protein Coding	7.98	DISEASES inferred ¹⁴
25	LRMDA	Leucine Rich Melanocyte Differentiation Associated	Protein Coding	7.84	DISEASES inferred ¹⁴
26	SLC45A2	Solute Carrier Family 45 Member 2	Protein Coding	7.77	DISEASES inferred ¹⁴
27	SLC38A8	Solute Carrier Family 38 Member 8	Protein Coding	7.64	DISEASES inferred ¹⁴
28	HPS6	HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3	Protein Coding	7.49	DISEASES inferred ¹⁴
29	HPS5	HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2	Protein Coding	7.26	DISEASES inferred ¹⁴
30	HPS3	HPS3 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1	Protein Coding	7.13	DISEASES inferred ¹⁴
31	ASIC5	Acid Sensing Ion Channel Subunit Family Member 5	Protein Coding	7.11	GeneCards inferred via : Publications (show sections)

Sources

Variations for Ocular Albinism

ClinVar genetic disease variations for Ocular Albinism:

IMPROVED

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

Sources

Expression for Ocular Albinism

Search GEO for disease gene expression data for Ocular Albinism.

Sources

Pathways for Ocular Albinism

Pathways related to Ocular Albinism according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	"Valproic Acid Pathway, Pharmacodynamics" ⁶⁰ Show member pathways aspartate biosynthesis ⁶¹ L-aspartate biosynthesis ⁶¹	10.5	SUCLG2 CACNA1F
2	GPR143 in melanocytes and retinal pigment epithelium cells ⁷⁴	10.47	TYRP1 TYR MLANA MITF GPR143
3	Melanin biosynthesis ⁶⁶	9.83	TYRP1 TYR OCA2

Sources

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

Sources for Ocular Albinism

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

OA MCID: OCL001 MIFTS: 43	Ocular Albinism (OA) Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

Ocular Albinism (OA)

Aliases & Classifications for Ocular Albinism

MalaCards integrated aliases for Ocular Albinism:

Classifications:

External Ids:

Summaries for Ocular Albinism

Related Diseases for Ocular Albinism

Diseases in the Ocular Albinism family:

Diseases related to Ocular Albinism via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Ocular Albinism

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

MGI Mouse Phenotypes related to Ocular Albinism:

Drugs & Therapeutics for Ocular Albinism

Drugs for Ocular Albinism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: albinism, ocular

Genetic Tests for Ocular Albinism

Genetic tests related to Ocular Albinism:

Anatomical Context for Ocular Albinism

Organs/tissues related to Ocular Albinism:

Publications for Ocular Albinism

Articles related to Ocular Albinism:

Genes for Ocular Albinism

Genes related to Ocular Albinism (2 elite genes):

Variations for Ocular Albinism

ClinVar genetic disease variations for Ocular Albinism:

Expression for Ocular Albinism

Pathways for Ocular Albinism

Pathways related to Ocular Albinism according to GeneCards Suite gene sharing:

GO Terms for Ocular Albinism

Cellular components related to Ocular Albinism according to GeneCards Suite gene sharing:

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

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

Sources for Ocular Albinism