Details of Disease

General Information of Disease (ID: DISAEE20)

• Disease Name: Granular corneal dystrophy type II
• Synonyms: corneal dystrophy Avellino type; CDA; granular-lattice (Avellino) corneal dystrophy; ACD; corneal dystrophy, AVELLINO type; granular and lattice corneal dystrophies; combined granular-lattice corneal dystrophies; granular corneal dystrophy, type 2; avellino corneal dystrophy; combined granular-lattice corneal dystrophy; Avellino corneal dystrophy; CGD2; granular-lattice corneal dystrophy; GCDII; GCD2; granular corneal dystrophy type 2
• Definition: Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
• Disease Hierarchy:
  DISZSUUG: Epithelial-stromal TGFBI dystrophy
  DIS41FDX: Stromal corneal dystrophy
  DISAEE20: Granular corneal dystrophy type II
• Disease Identifiers:
  MONDO ID: MONDO_0011855
  MESH ID: C535474
  UMLS CUI: C1275685
  OMIM ID: 607541
  MedGen ID: 220900
  Orphanet ID: 98963
  SNOMED CT ID: 397568004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BACE1	TTJUNZF	Limited	Biomarker	[1]
CCL17	TTMPHAE	Limited	Altered Expression	[2]
DHODH	TTLVP78	Limited	Biomarker	[3]
HPD	TT8DSFC	Limited	Biomarker	[4]
MRGPRX2	TT3YV20	Limited	Biomarker	[5]
STC2	TT4EFTR	Limited	Biomarker	[6]
SUCNR1	TT4FX9Y	Limited	Biomarker	[7]
TRPA1	TTELV3W	Limited	Altered Expression	[8]
CDA	TTQ12RK	moderate	Genetic Variation	[9]
CD1A	TTBGTFN	Strong	Genetic Variation	[10]
TRPV1	TTMI6F5	Definitive	Altered Expression	[8]

This Disease Is Related to 21 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACD	OTC54EPO	Limited	Biomarker	[11]
AIMP1	OTTA5C3U	Limited	Biomarker	[12]
CCL27	OTUZYC61	Limited	Biomarker	[2]
CCN6	OTRFHQ2Z	Limited	Biomarker	[4]
CCR10	OT7ZWSSD	Limited	Biomarker	[13]
CD1B	OT4D5EG7	Limited	Genetic Variation	[14]
CD1C	OT4XINUJ	Limited	Genetic Variation	[14]
CLMP	OTU7C3GQ	Limited	Altered Expression	[15]
FLG	OTE9QDV6	Limited	Altered Expression	[15]
FLG2	OTIIKCFS	Limited	Altered Expression	[15]
FOXF1	OT2CJZ5K	Limited	Genetic Variation	[16]
GADD45G	OT8V1J4M	Limited	Genetic Variation	[17]
GCDH	OTVQMZZN	Limited	Genetic Variation	[18]
HLA-F	OT76CM19	Limited	Genetic Variation	[19]
IL26	OT2WYCW4	Limited	Biomarker	[20]
KLF1	OT1FK08U	Limited	Genetic Variation	[21]
MCIDAS	OTK1JVAH	Limited	Biomarker	[22]
SEL1L	OTC0FB7T	Limited	Altered Expression	[23]
CDAN1	OTCVZRG6	Strong	Genetic Variation	[24]
LPIN2	OTRRTMXX	Strong	Biomarker	[25]
TGFBI	OTR443C5	Definitive	Autosomal dominant	[26]

References

• [1] APP processing and metabolism in corneal fibroblasts and epithelium as a potential biomarker for Alzheimer's disease.Exp Eye Res. 2019 May;182:167-174. doi: 10.1016/j.exer.2019.03.012. Epub 2019 Mar 28.
• [2] Kinetics and differential expression of the skin-related chemokines CCL27 and CCL17 in psoriasis, atopic dermatitis and allergic contact dermatitis.Exp Dermatol. 2011 Oct;20(10):789-94. doi: 10.1111/j.1600-0625.2011.01323.x. Epub 2011 Jun 24.
• [3] Case report of recalcitrant allergic contact eczema successfully treated with teriflunomide.Dermatol Ther. 2019 Jul;32(4):e12947. doi: 10.1111/dth.12947. Epub 2019 May 8.
• [4] Screening for skin-sensitizing allergens among patients with clinically suspected allergic contact dermatitis.Saudi Med J. 2017 Sep;38(9):922-927. doi: 10.15537/smj.2017.9.19864.
• [5] Activation of Mast-Cell-Expressed Mas-Related G-Protein-Coupled Receptors Drives Non-histaminergic Itch.Immunity. 2019 May 21;50(5):1163-1171.e5. doi: 10.1016/j.immuni.2019.03.013. Epub 2019 Apr 23.
• [6] Stanniocalcin-2 contributes to mesenchymal stromal cells attenuating murine contact hypersensitivity mainly via reducing CD8(+) Tc1 cells.Cell Death Dis. 2018 May 1;9(5):548. doi: 10.1038/s41419-018-0614-x.
• [7] GPR91 deficiency exacerbates allergic contact dermatitis while reducing arthritic disease in mice.Allergy. 2017 Mar;72(3):444-452. doi: 10.1111/all.13005. Epub 2016 Sep 12.
• [8] Analgesic and antipruritic effects of oxymatrine sustained-release microgel cream in a mouse model of inflammatory itch and pain.Eur J Pharm Sci. 2020 Jan 1;141:105110. doi: 10.1016/j.ejps.2019.105110. Epub 2019 Oct 22.
• [9] CDA deficiency as a possible culprit for life-threatening toxicities after cytarabine plus 6-mercaptopurine therapy: pharmacogenetic investigations.Pharmacogenomics. 2012 Mar;13(4):393-7. doi: 10.2217/pgs.11.175.
• [10] Eczema in Psoriatico: An Important Differential Diagnosis Between Chronic Allergic Contact Dermatitis and Psoriasis in Palmoplantar Localization.Acta Derm Venereol. 2018 Jan 12;98(1):50-58. doi: 10.2340/00015555-2779.
• [11] Expression profile of significant immortalization genes in colon cancer.Int J Mol Med. 2010 Mar;25(3):321-9. doi: 10.3892/ijmm_00000348.
• [12] Expanding the phenotype of alveolar capillary dysplasia (ACD).J Pediatr. 2004 Nov;145(5):646-51. doi: 10.1016/j.jpeds.2004.06.081.
• [13] Increased CCL27-CCR10 expression in allergic contact dermatitis: implications for local skin memory.J Pathol. 2004 Sep;204(1):39-46. doi: 10.1002/path.1619.
• [14] Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the betaigh3 gene.Br J Ophthalmol. 2007 Jun;91(6):722-7. doi: 10.1136/bjo.2006.111070. Epub 2007 Jan 10.
• [15] Skin barrier damage after exposure to paraphenylenediamine.J Allergy Clin Immunol. 2020 Feb;145(2):619-631.e2. doi: 10.1016/j.jaci.2019.11.023. Epub 2019 Nov 26.
• [16] A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.J Perinatol. 2015 Feb;35(2):155-7. doi: 10.1038/jp.2014.187.
• [17] Skin application of glutathione and iron sulfate can inhibit elicitation of allergic contact dermatitis from hexavalent chromium.Contact Dermatitis. 2020 Jan;82(1):45-53. doi: 10.1111/cod.13409. Epub 2019 Nov 14.
• [18] Decreased catalase expression and increased susceptibility to oxidative stress in primary cultured corneal fibroblasts from patients with granular corneal dystrophy type II.Am J Pathol. 2009 Jul;175(1):248-61. doi: 10.2353/ajpath.2009.081001. Epub 2009 Jun 4.
• [19] Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy.Biochem Biophys Res Commun. 2009 Oct 2;387(4):688-93. doi: 10.1016/j.bbrc.2009.07.084. Epub 2009 Jul 19.
• [20] IL-26 in allergic contact dermatitis: Resource in a state of readiness.Exp Dermatol. 2018 Jun;27(6):681-684. doi: 10.1111/exd.13521. Epub 2018 Apr 10.
• [21] Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors.BMC Genomics. 2019 May 24;20(1):417. doi: 10.1186/s12864-019-5805-z.
• [22] Isothiazolinone derivatives and allergic contact dermatitis: a review and update.J Eur Acad Dermatol Venereol. 2019 Feb;33(2):267-276. doi: 10.1111/jdv.15267.
• [23] Melatonin reduces endoplasmic reticulum stress and corneal dystrophy-associated TGFBIp through activation of endoplasmic reticulum-associated protein degradation.J Pineal Res. 2017 Oct;63(3). doi: 10.1111/jpi.12426. Epub 2017 Jul 18.
• [24] Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002 Dec;71(6):1467-74. doi: 10.1086/344781. Epub 2002 Nov 14.
• [25] Efficacy of anti-IL-1 treatment in Majeed syndrome.Ann Rheum Dis. 2013 Mar;72(3):410-3. doi: 10.1136/annrheumdis-2012-201818. Epub 2012 Oct 20.
• [26] Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment. Cornea. 2007 Oct;26(9):1095-100. doi: 10.1097/ICO.0b013e3181484013.