Details of Disease

General Information of Disease (ID: DISERQJ1)

• Disease Name: Fleck corneal dystrophy
• Synonyms: corneal dystrophy, Francois-Neetens speckled or flecked; Cfd; corneal dystrophy, FLECK; fleck corneal dystrophy; FranC'ois-Neetens speckled corneal dystrophy; corneal fleck dystrophy; Franois-Neetens speckled corneal dystrophy; Francois-Neetens speckled corneal dystrophy; FCD
• Definition: Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS41FDX: Stromal corneal dystrophy
  DISERQJ1: Fleck corneal dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0007376
  MESH ID: C563256
  UMLS CUI: C1562113
  OMIM ID: 121850
  MedGen ID: 287065
  Orphanet ID: 98970
  SNOMED CT ID: 417183007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FOLR1	TTVC37M	Strong	Biomarker	[1]
FOLR2	TTT54CI	Strong	Biomarker	[1]
PIKFYVE	TTA4M1N	Strong	Biomarker	[2]
PNKP	TTHR3IE	Strong	Biomarker	[1]
SLC12A5	TTH6UZY	Strong	Biomarker	[3]
PIKFYVE	TTA4M1N	Definitive	Autosomal dominant	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A11	DTH2J1G	Strong	Genetic Variation	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGT1A4	DELOY3P	Strong	Altered Expression	[6]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NPRL2	OTOB10MO	Disputed	Biomarker	[7]
NPRL3	OTS4HE8E	moderate	Biomarker	[7]
AGBL1	OT8NQLH0	Strong	Biomarker	[8]
COL8A2	OTASWJ69	Strong	Biomarker	[9]
DEPDC5	OTE70JLY	Strong	Biomarker	[7]
DNAAF3	OT3OHO0O	Strong	Biomarker	[10]
DNAH5	OTC21RUS	Strong	Biomarker	[10]
DNAI1	OTF6C65Q	Strong	Biomarker	[10]
GCDH	OTVQMZZN	Strong	Biomarker	[11]
LGI1	OTPS77HO	Strong	Genetic Variation	[12]
PANX2	OTAQ2S8R	Strong	Altered Expression	[13]
PCBD1	OTDSRUD5	Strong	Biomarker	[10]
PTPRG	OT9N2WOF	Strong	Biomarker	[14]
STATH	OTQHBHM9	Strong	Biomarker	[15]
TCF4	OTB9ASTK	Strong	Genetic Variation	[14]
TESC	OTI8C76M	Strong	Genetic Variation	[16]
TSC1	OTFF4YZ7	Strong	Genetic Variation	[17]
PIKFYVE	OTO3HGAA	Definitive	Autosomal dominant	[4]

References

• [1] Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.Mol Genet Metab. 2018 May;124(1):87-93. doi: 10.1016/j.ymgme.2018.03.001. Epub 2018 Mar 3.
• [2] Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.Mol Vis. 2015 Sep 17;21:1093-100. eCollection 2015.
• [3] Complex Patterns of GABAergic Neuronal Deficiency and Type 2 Potassium-Chloride Cotransporter Immaturity in Human Focal Cortical Dysplasia.J Neuropathol Exp Neurol. 2019 Apr 1;78(4):365-372. doi: 10.1093/jnen/nlz009.
• [4] Genetic linkage of Francois-Neetens fleck (mouchete) corneal dystrophy to chromosome 2q35. Hum Genet. 2003 May;112(5-6):593-9. doi: 10.1007/s00439-002-0905-1. Epub 2003 Feb 27.
• [5] Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat. 2010 Nov;31(11):1261-8. doi: 10.1002/humu.21356. Epub 2010 Oct 14.
• [6] Upregulation of breast cancer resistance protein and major vault protein in drug resistant epilepsy.Seizure. 2017 Apr;47:9-12. doi: 10.1016/j.seizure.2017.02.014. Epub 2017 Feb 27.
• [7] Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy.Neurobiol Dis. 2020 Feb;134:104640. doi: 10.1016/j.nbd.2019.104640. Epub 2019 Oct 19.
• [8] Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. Am J Hum Genet. 2013 Oct 3;93(4):758-64. doi: 10.1016/j.ajhg.2013.08.010.
• [9] Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1934-9. doi: 10.1167/iovs.04-0937.
• [10] Age-Dependent Subchondral Bone Remodeling and Cartilage Repair in a Minipig Defect Model.Tissue Eng Part C Methods. 2017 Nov;23(11):745-753. doi: 10.1089/ten.TEC.2017.0109. Epub 2017 Oct 27.
• [11] Reelin: a possible link between hippocampal sclerosis and cortical dyslamination in the setting of FCD type IIIa.Neurol Sci. 2012 Dec;33(6):1479-81. doi: 10.1007/s10072-011-0895-7. Epub 2011 Dec 28.
• [12] Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.J Neurol. 2016 Jan;263(1):11-6. doi: 10.1007/s00415-015-7921-2. Epub 2015 Oct 12.
• [13] Expression of pannexin 1 and 2 in cortical lesions from intractable epilepsy patients with focal cortical dysplasia.Oncotarget. 2017 Jan 24;8(4):6883-6895. doi: 10.18632/oncotarget.14317.
• [14] Association of common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis.PLoS One. 2014 Oct 9;9(10):e109142. doi: 10.1371/journal.pone.0109142. eCollection 2014.
• [15] Age-severity relationships in families linked to FCD2 with retroillumination photography.Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6298-302. doi: 10.1167/iovs.10-5187. Epub 2010 Sep 1.
• [16] Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes.Epilepsia. 2009 Jun;50(6):1396-408. doi: 10.1111/j.1528-1167.2008.01979.x. Epub 2009 Jan 21.
• [17] Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation.Clin EEG Neurosci. 2018 May;49(3):187-191. doi: 10.1177/1550059417697841. Epub 2017 Mar 7.