Details of Disease

General Information of Disease (ID: DISOLD0H)

• Disease Name: Macular corneal dystrophy
• Synonyms: macular corneal dystrophy type 1; macular corneal dystrophy, type 1; corneal dystrophy, macular type; macular corneal dystrophy, type 2; Mcdc1; macular dystrophy, corneal type 1; Groenouw type 2 corneal dystrophy; Mcdc1, formerly; Groenouw type II corneal dystrophy; macular dystrophy, corneal; macular dystrophy, corneal, 1; macular corneal dystrophy; MCD; Fehr corneal dystrophy; corneal dystrophy Groenouw type II
• Definition: Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.
• Disease Hierarchy:
  DISEYSYY: Hereditary macular dystrophy
  DIS41FDX: Stromal corneal dystrophy
  DISOLD0H: Macular corneal dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0009020
  MESH ID: C537834
  UMLS CUI: C1636149
  OMIM ID: 217800
  MedGen ID: 351514
  Orphanet ID: 98969
  SNOMED CT ID: 418054005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LCAT	TTGZ91P	Limited	Genetic Variation	[1]
MLYCD	TT9Z4YD	Disputed	Biomarker	[2]
HDAC11	TT8K17W	Strong	Altered Expression	[3]
MADCAM1	TTBD6I7	Strong	Biomarker	[4]

This Disease Is Related to 22 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL10A1	OTC4G2YC	Limited	Genetic Variation	[5]
CUL4B	OT2QX4DO	Limited	Biomarker	[6]
INF2	OT8ZM13C	Limited	Biomarker	[7]
NPHS1	OT21JD3P	Limited	Altered Expression	[8]
RBFOX1	OTFPKEL7	Limited	Altered Expression	[9]
SECTM1	OT5500CF	Limited	Biomarker	[10]
ACTN4	OTCNZAJ5	moderate	Biomarker	[11]
NPHS2	OTLCNUII	moderate	Biomarker	[12]
CHST6	OTXD2IWK	Strong	Autosomal recessive	[13]
DDN	OTM52ZF5	Strong	Altered Expression	[14]
DEPDC5	OTE70JLY	Strong	Biomarker	[15]
DYNC1H1	OTD1KRKO	Strong	Genetic Variation	[16]
HLCS	OTPDUX30	Strong	Genetic Variation	[17]
HTN3	OTEUXA81	Strong	Altered Expression	[18]
KIF2A	OT2WQ6QD	Strong	Biomarker	[16]
KIF5C	OT35570Y	Strong	Genetic Variation	[19]
KRT12	OTFOWNH2	Strong	Genetic Variation	[20]
KRT3	OT5U1Y8L	Strong	Genetic Variation	[20]
NPRL2	OTOB10MO	Strong	Genetic Variation	[21]
RPL23	OTXI1YLM	Strong	Altered Expression	[18]
THSD7A	OT7249HH	Strong	Biomarker	[22]
NPRL3	OTS4HE8E	Definitive	Genetic Variation	[21]

References

• [1] Physical and genetic mapping of the macular corneal dystrophy locus on chromosome 16q and exclusion of TAT and LCAT as candidate genes.Mol Vis. 2000 Jun 19;6:95-100.
• [2] Virome capture sequencing does not identify active viral infection in unicentric and idiopathic multicentric Castleman disease.PLoS One. 2019 Jun 26;14(6):e0218660. doi: 10.1371/journal.pone.0218660. eCollection 2019.
• [3] HDAC11 regulates interleukin-13 expression in CD4+ T cells in the heart.J Mol Cell Cardiol. 2018 Sep;122:1-10. doi: 10.1016/j.yjmcc.2018.07.253. Epub 2018 Jul 29.
• [4] (7)-Integrin and MAdCAM-1 play opposing roles during the development of non-alcoholic steatohepatitis.J Hepatol. 2017 Jun;66(6):1251-1264. doi: 10.1016/j.jhep.2017.02.001. Epub 2017 Feb 10.
• [5] RMRP mutations in cartilage-hair hypoplasia.Am J Med Genet A. 2006 Oct 1;140(19):2121-30. doi: 10.1002/ajmg.a.31331.
• [6] Variants in CUL4B are associated with cerebral malformations.Hum Mutat. 2015 Jan;36(1):106-17. doi: 10.1002/humu.22718.
• [7] Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.BMC Med Genet. 2018 Aug 20;19(1):147. doi: 10.1186/s12881-018-0667-9.
• [8] Messenger RNA expression of B7-1 and NPHS1 in urinary sediment could be useful to differentiate between minimal-change disease and focal segmental glomerulosclerosis in adult patients.Nephrol Dial Transplant. 2011 Dec;26(12):3914-23. doi: 10.1093/ndt/gfr128. Epub 2011 Mar 17.
• [9] Upregulation of RBFOX1 in the malformed cortex of patients with intractable epilepsy and in cultured rat neurons.Int J Mol Med. 2015 Mar;35(3):597-606. doi: 10.3892/ijmm.2015.2061. Epub 2015 Jan 5.
• [10] A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.Br J Ophthalmol. 2000 May;84(5):527-30. doi: 10.1136/bjo.84.5.527.
• [11] Minimal Change Disease.Clin J Am Soc Nephrol. 2017 Feb 7;12(2):332-345. doi: 10.2215/CJN.05000516. Epub 2016 Dec 9.
• [12] Podocin and uPAR are good biomarkers in cases of Focal and segmental glomerulosclerosis in pediatric renal biopsies.PLoS One. 2019 Jun 12;14(6):e0217569. doi: 10.1371/journal.pone.0217569. eCollection 2019.
• [13] Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. Arch Ophthalmol. 2003 Nov;121(11):1608-12. doi: 10.1001/archopht.121.11.1608.
• [14] Expression of DENDRIN in several glomerular diseases and correlation to pathological parameters and renal failure - preliminary study.Diagn Pathol. 2018 Nov 20;13(1):90. doi: 10.1186/s13000-018-0767-z.
• [15] DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.Neurobiol Dis. 2018 Jun;114:184-193. doi: 10.1016/j.nbd.2018.02.013. Epub 2018 Feb 24.
• [16] Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21.
• [17] Holocarboxylase synthetase deficiency: novel clinical and molecular findings.Clin Genet. 2010 Jul;78(1):88-93. doi: 10.1111/j.1399-0004.2009.01357.x. Epub 2009 Dec 2.
• [18] Comparative differential proteomic analysis of minimal change disease and focal segmental glomerulosclerosis.BMC Nephrol. 2017 Feb 3;18(1):49. doi: 10.1186/s12882-017-0452-6.
• [19] Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.Am J Med Genet A. 2017 Dec;173(12):3127-3131. doi: 10.1002/ajmg.a.38496. Epub 2017 Oct 19.
• [20] Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. Cornea. 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26.
• [21] GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.Epilepsia. 2019 Nov;60(11):2163-2173. doi: 10.1111/epi.16370. Epub 2019 Oct 17.
• [22] Immunoadsorption in nephrotic syndrome: Where are we now and where are we going from here?.Atheroscler Suppl. 2019 Dec;40:55-60. doi: 10.1016/j.atherosclerosissup.2019.08.027. Epub 2019 Aug 17.