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Entry Name Description Category Pathway Gene
H00951 Reis-Bucklers corneal dystrophy
Corneal dystrophy of Bowman type I
Granular corneal dystrophy type III
... bodies best seen with the electron microscope. Thiel-Behnke dystrophies (TBCD) share many similarities as well as some differences with RBCD. Both RBCD and TBCD are linked to mutations in the TGFBI gene. Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H00952 Thiel-Behnke dystrophies
Corneal dystrophy of Bowman layer type II
Honeycomb corneal dystrophy
Anterior limiting membrane dystrophy type II
Curly fibers corneal dystrophy
Waardenburg-Jonker corneal dystrophy
... layer and this finding differentiates it from RBCD. Both TBCD and RBCD are linked to mutations in the TGFBI gene. TBCD is also linked to a mutation on chromosome 10q23-24, the gene product is currently unknown Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H00955 Granular corneal dystrophies ... opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino or granular-lattice type, and type III Reis-Bucklers type. GCD has been linked to several mutations in TGFBI gene. Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H00956 Lattice corneal dystrophies ... dystrophy with variable expression. Clinical findings include the presence of a linear network of subepithelial opacities (lattice lines). LCD associated with the mutations in the TGFBI gene has been reported. Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H01221 Epithelial basement membrane corneal dystrophy
Cogan microcystic epithelial dystrophy
Map-dot-fingerprint dystrophy
... hereditary pattern, but some cases presented with an autosomal dominant inheritance. Mutations in the TGFBI/BIGH3 genes, which are known to cause various forms of corneal dystrophies, have been identified ... Nervous system disease TGFBI [HSA:7045] [KO:K19519]
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