eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lattice corneal dystrophy | ||||
| Disease ID | 1258 |
|---|---|
| Disease | lattice corneal dystrophy |
| Definition | The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. [HPO:curators] |
| Synonym | amyloid corneal dystrophy biber haab dimmer dystrophy familial amyloid neuropathy, finnish type familial amyloid neuropathy, finnish type (disorder) familial amyloid polyneuropathy type v familial amyloid polyneuropathy, type v finland type amyloidosis finnish type amyloidosis finnish type familial amyloid neuropathy lattice cornea dystrophy lattice corneal dystrophy (disorder) lattice corneal dystrophy [ambiguous] type v familial amyloid polyneuropathy |
| DOID | |
| ICD10 | |
| UMLS | C0155127 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:23) 265 | AMELX | 1.733 | DISEASES 337 | APOA4 | 2.727 | DISEASES 4166 | CHST6 | 3.536 | DISEASES 1280 | COL2A1 | 1.228 | DISEASES 355 | FAS | 3.875 | DISEASES 2200 | FBN1 | 1.135 | DISEASES 8322 | FZD4 | 1.94 | DISEASES 2934 | GSN | 5.314 | DISEASES 3339 | HSPG2 | 1.085 | DISEASES 5654 | HTRA1 | 1.735 | DISEASES 3655 | ITGA6 | 1.818 | DISEASES 3850 | KRT3 | 2.399 | DISEASES 4948 | OCA2 | 1.709 | DISEASES 10471 | PFDN6 | 3.378 | DISEASES 5339 | PLEC | 1.67 | DISEASES 8732 | RNGTT | 2.247 | DISEASES 6288 | SAA1 | 1.981 | DISEASES 5270 | SERPINE2 | 1.884 | DISEASES 6520 | SLC3A2 | 1.662 | DISEASES 4070 | TACSTD2 | 3.794 | DISEASES 6904 | TBCD | 3.952 | DISEASES 7045 | TGFBI | 7.932 | DISEASES 29914 | UBIAD1 | 2.604 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1258 |
|---|---|
| Disease | lattice corneal dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1258 |
|---|---|
| Disease | lattice corneal dystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11550199 | 1319113 | 2934 | GSN | umls:C0155127 | BeFree | Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn). | 0.000542884 | 1992 | GSN | 9 | 121312363 | A | G |
| rs121909210 | 20458218 | 7045 | TGFBI | umls:C0155127 | BeFree | Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. | 0.008143256 | 2010 | TGFBI | 5 | 136046406 | C | A,T |
| rs121909210 | 15013897 | 7045 | TGFBI | umls:C0155127 | BeFree | Molecular genetic analysis identified a lattice corneal dystrophy I-associated heterozygous missense alteration (C417T) that changed arginine in codon 124 to cysteine (R124C) in the TGFBI gene. | 0.008143256 | 2004 | TGFBI | 5 | 136046406 | C | A,T |
| rs121909210 | 12770961 | 7045 | TGFBI | umls:C0155127 | BeFree | H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. | 0.008143256 | 2003 | TGFBI | 5 | 136046406 | C | A,T |
| rs121909210 | 17846354 | 7045 | TGFBI | umls:C0155127 | BeFree | In lattice corneal dystrophy (Arg124Cys and Leu527Arg mutations of TGFBI), highly reflective branching filaments of variable width were observed in the stroma. | 0.008143256 | 2007 | TGFBI | 5 | 136046406 | C | A,T |
| rs121909212 | 11004271 | 7045 | TGFBI | umls:C0155127 | BeFree | Although the P501T of the BIGH3 gene found in this pedigree was precisely the one reported for lattice corneal dystrophy IIIA, no clinical feature was shown, even in the 85-year-old father. | 0.008143256 | 2000 | TGFBI | 5 | 136055770 | C | A,G,T |
| rs121909215 | 15885785 | 7045 | TGFBI | umls:C0155127 | BeFree | We report a novel corneal dystrophy phenotype secondary to the Gly623Asp mutation in the TGFBI gene that is associated with clinical features of both lattice corneal dystrophy and a Bowman's layer dystrophy. | 0.008143256 | 2005 | TGFBI | 5 | 136060898 | G | A |
| rs200201691 | 18385782 | 7045 | TGFBI | umls:C0155127 | BeFree | Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. | 0.008143256 | 2008 | TGFBI | 5 | 136060900 | G | A |
| rs267607109 | 15531312 | 7045 | TGFBI | umls:C0155127 | BeFree | Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. | 0.008143256 | 2004 | TGFBI | 5 | 136056754 | C | A |
| rs267607110 | 15531312 | 7045 | TGFBI | umls:C0155127 | BeFree | Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. | 0.008143256 | 2004 | TGFBI | 5 | 136056769 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1258 |
|---|---|
| Disease | lattice corneal dystrophy |
| Case | (Waiting for update.) |