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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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