Details of Disease

General Information of Disease (ID: DISI9S32)

Disease Name X-linked recessive ocular albinism
Synonyms
Nettleship-Falls type ocular albinism; X-linked ocular albinism; albinism, ocular, type I; albinism, ocular, type 1; ocular albinism, Nettleship-Falls type; Nettleship-Falls syndrome; OA1; XLOA; ocular albinism, type I, Nettleship-Falls type; ocular albinism type 1
Definition X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
Disease Hierarchy
DIS5D82I: Albinism
DIS4MF43: GPR143-related foveal hypoplasia
DISHZGSA: X-linked recessive disease
DIS5IHK1: Ocular albinism
DISI9S32: X-linked recessive ocular albinism
Disease Identifiers
MONDO ID
MONDO_0021019
MESH ID
C537863
UMLS CUI
C0342684
OMIM ID
300500
MedGen ID
90991
Orphanet ID
54
SNOMED CT ID
78642008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
STS TTHM0R1 Definitive Biomarker [1]
TYR TTULVH8 Definitive Biomarker [2]
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This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC38A8 DT0UQDA moderate Genetic Variation [3]
SLC45A2 DTNCJAT moderate Biomarker [4]
SLC24A5 DTAWCS9 Strong Biomarker [4]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRMDA OTIPNKTU moderate Genetic Variation [4]
MREG OT0LUIRG moderate Genetic Variation [5]
SHROOM2 OTZ2FJ7Q moderate Biomarker [6]
TBL1Y OTA0F7TM moderate Biomarker [7]
CLCN4 OT4A2UWF Strong Biomarker [8]
GPR143 OTWUA2AV Strong X-linked [9]
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⏷ Show the Full List of 6 DOT(s)

References

1 Detection of KAL-1 gene deletion with fluorescence in situ hybridization.J Formos Med Assoc. 1999 Jun;98(6):448-51.
2 Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.J Invest Dermatol. 2017 Feb;137(2):457-465. doi: 10.1016/j.jid.2016.09.022. Epub 2016 Oct 6.
3 Clinical and genetic variability in children with partial albinism.Sci Rep. 2019 Nov 12;9(1):16576. doi: 10.1038/s41598-019-51768-8.
4 A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.Sci Rep. 2019 Jan 24;9(1):645. doi: 10.1038/s41598-018-37272-5.
5 Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.PLoS One. 2012;7(9):e42446. doi: 10.1371/journal.pone.0042446. Epub 2012 Sep 11.
6 Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.Hum Mol Genet. 1995 Mar;4(3):373-82. doi: 10.1093/hmg/4.3.373.
7 X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.Am J Hum Genet. 1999 Jun;64(6):1604-16. doi: 10.1086/302408.
8 A new region of conservation is defined between human and mouse X chromosomes.Genomics. 1996 Jul 1;35(1):244-7. doi: 10.1006/geno.1996.0347.
9 Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. Br J Ophthalmol. 2005 Jul;89(7):820-4. doi: 10.1136/bjo.2004.060582.