Details of Disease

Disease Name

Ocular albinism

ocular albinism; XLOA; ocular albinism (disease)

Definition

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.

Disease Hierarchy

DISQ1B1S: Disorder of visual system

DISMCPVS: Disorder of melanin metabolism

DIS5IHK1: Ocular albinism

Disease Identifiers

MONDO ID

MONDO_0017304

MESH ID

D016117

UMLS CUI

C0078917

MedGen ID

38147

HPO ID

HP:0001107

Orphanet ID

284804

SNOMED CT ID

26399002

General Information of Disease (ID: DIS5IHK1)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNAI3	TT8QF3W	Limited	Biomarker	[1]
TYR	TTULVH8	Strong	Biomarker	[2]
TYRP1	TTFRV98	Strong	Biomarker	[3]
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This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC24A5	DTAWCS9	Strong	Biomarker	[2]
SLC38A8	DT0UQDA	Strong	Biomarker	[4]
SLC45A2	DTNCJAT	Strong	Biomarker	[3]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP3B1	OTYTIH5Q	Strong	Genetic Variation	[5]
AP3D1	OTJLI0IM	Strong	Genetic Variation	[6]
FGL1	OTT0QHQ1	Strong	Genetic Variation	[5]
FNDC3A	OTUX3S2I	Strong	Genetic Variation	[7]
FRMD7	OTJ11849	Strong	Biomarker	[4]
GPR143	OTWUA2AV	Strong	Genetic Variation	[8]
HERC2	OTNQYKOB	Strong	Genetic Variation	[9]
HPS1	OTKS5I7T	Strong	Biomarker	[4]
HPS6	OTXL5KQW	Strong	Genetic Variation	[10]
MITF	OT6XJCZH	Strong	Biomarker	[4]
OCA2	OTDWIGBF	Strong	Genetic Variation	[11]
SHROOM2	OTZ2FJ7Q	Strong	Genetic Variation	[12]
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⏷ Show the Full List of 12 DOT(s)

References

1	GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.PLoS One. 2016 Sep 8;11(9):e0162273. doi: 10.1371/journal.pone.0162273. eCollection 2016.
2	Clinical evaluation and molecular screening of a large consecutive series of albino patients.J Hum Genet. 2017 Feb;62(2):277-290. doi: 10.1038/jhg.2016.123. Epub 2016 Oct 13.
3	In silico analysis of miRNA-mediated gene regulation in OCA and OA genes.Cell Biochem Biophys. 2014 Dec;70(3):1923-32. doi: 10.1007/s12013-014-0152-9.
4	Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.Ophthalmic Genet. 2019 Apr;40(2):161-164. doi: 10.1080/13816810.2019.1592201. Epub 2019 Apr 3.
5	Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.Hum Mutat. 2006 May;27(5):402-7. doi: 10.1002/humu.20309.
6	Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7.
7	Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.Hum Mutat. 2006 May;27(5):420-6. doi: 10.1002/humu.20303.
8	Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.Sci Rep. 2017 Feb 17;7:33713. doi: 10.1038/srep33713.
9	Genotype-phenotype associations and human eye color.J Hum Genet. 2011 Jan;56(1):5-7. doi: 10.1038/jhg.2010.126. Epub 2010 Oct 14.
10	Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.J Hum Genet. 2016 Sep;61(9):839-42. doi: 10.1038/jhg.2016.56. Epub 2016 May 26.
11	Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Sci Rep. 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5.
12	Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.Am J Med Genet A. 2014 May;164A(5):1268-71. doi: 10.1002/ajmg.a.36415. Epub 2014 Jan 29.