Details of Disease

General Information of Disease (ID: DISRDPA6)

Disease Name Corneal dystrophy
Synonyms corneal dystrophy; corneal dystrophy (disease)
Definition
The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.|Editor note: NCIT distinguishes between acquired and genetic
Disease Hierarchy
DISTUIM1: Corneal disease
DISRDPA6: Corneal dystrophy
Disease Identifiers
MONDO ID
MONDO_0018102
UMLS CUI
C0010036
MedGen ID
3619
HPO ID
HP:0001131
Orphanet ID
34533
SNOMED CT ID
5587004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GLA TTIS03D Limited Altered Expression [1]
TACSTD2 TTP2HE5 Limited Genetic Variation [2]
CTSA TT5NILS moderate Biomarker [3]
GRHL2 TTUGH4C Strong Genetic Variation [4]
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This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT12 OTFOWNH2 Limited Genetic Variation [5]
MBTPS2 OT67CC7W Limited Biomarker [6]
ACD OTC54EPO moderate Genetic Variation [7]
GCDH OTVQMZZN moderate Genetic Variation [8]
PTPRG OT9N2WOF moderate Genetic Variation [9]
TBCD OTS4JKNQ moderate Genetic Variation [7]
CHST6 OTXD2IWK Strong Genetic Variation [10]
COL17A1 OTID5AH2 Strong Genetic Variation [11]
COL8A1 OTWBTED2 Strong Genetic Variation [12]
COL8A2 OTASWJ69 Strong Genetic Variation [13]
MATN4 OT0CD0VH Strong Altered Expression [14]
OVOL2 OTFM1GKF Strong Biomarker [15]
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⏷ Show the Full List of 12 DOT(s)

References

1 Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.Arch Neurol. 2006 Mar;63(3):453-7. doi: 10.1001/archneur.63.3.453.
2 Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.Hum Genet. 2002 Jun;110(6):568-77. doi: 10.1007/s00439-002-0729-z. Epub 2002 Apr 20.
3 Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings.PLoS One. 2017 Feb 24;12(2):e0172854. doi: 10.1371/journal.pone.0172854. eCollection 2017.
4 Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002.
5 Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.Mol Vis. 2010 May 29;16:954-60.
6 Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.J Med Genet. 1992 Jan;29(1):36-40. doi: 10.1136/jmg.29.1.36.
7 Clinical outcome of eight BIGH3-linked corneal dystrophies.Ophthalmology. 2002 Apr;109(4):793-7. doi: 10.1016/s0161-6420(01)01025-9.
8 Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.Mol Vis. 2010 Jun 30;16:1186-93.
9 Association of transcription factor 4 (TCF4) and protein tyrosine phosphatase, receptor type G (PTPRG) with corneal dystrophies in southern Chinese.Ophthalmic Genet. 2014 Sep;35(3):138-41. doi: 10.3109/13816810.2013.804098. Epub 2013 Jun 12.
10 TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.Graefes Arch Clin Exp Ophthalmol. 2014 Aug;252(8):1267-72. doi: 10.1007/s00417-014-2648-9. Epub 2014 May 7.
11 Clinical and genetic update of corneal dystrophies.Exp Eye Res. 2019 Sep;186:107715. doi: 10.1016/j.exer.2019.107715. Epub 2019 Jul 10.
12 No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3787-90. doi: 10.1167/iovs.05-1635.
13 Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2.Cornea. 2016 May;35(5):587-91. doi: 10.1097/ICO.0000000000000796.
14 Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly expressed in the epithelium of human granular and lattice type I corneal dystrophies.Mol Vis. 2012;18:1927-36. Epub 2012 Jul 18.
15 IC3D classification of corneal dystrophies--edition 2.Cornea. 2015 Feb;34(2):117-59. doi: 10.1097/ICO.0000000000000307.