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Genes (13)
Species:
human : 13 | |
| Human | CYP4V2 | 285440 | cytochrome P450, family 4, subfamily V, polypeptide 2 | Marginal corneal dystrophy | | Human | PIKFYVE | 200576 | phosphoinositide kinase, FYVE finger containing | Speckled corneal dystrophy (white flecks in corneal stroma) | | Human | SLC4A11 | 83959 | solute carrier family 4, sodium borate transporter, member 11 | The corneal dystrophy and perceptive deafness (Harboyan syndrome) gene (CDPD1) maps to chromosome 20p13 These findings extend the implication of the SLC4A11 borate transporter beyond corneal dystrophy to perceptive deafness | | Human | TP63 | 8626 | tumor protein p63 | Certain TP63 mutations yield typical clinical features of Rapp-Hodgkin syndrome, but also ophthalmic anomalies such as corneal dystrophy and premature menopause | | Human | TP53 | 7157 | tumor protein p53 | INFERRED, Score=800, UMLKSK CUI: C0010035 | | Human | TGFBI | 7045 | transforming growth factor, beta-induced, 68kDa | 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 TGFBI gene mutation analysis is important as well for the early differential diagnosis of corneal dystrophies and genetic consulting in high-risk families We present a unique corneal dystrophy phenotype associated with the novel p.Met619Lys mutation in TGFBI Mutational analysis of TGFBI in a family with an unusual corneal dystrophy of Bowman's layer variant indicated a novel phenotype-genotype association study evaluates mutations in the TGFBI gene in patients of Czech origin with autosomal dominant corneal dystrophies Nodular corneal dystrophy Punctate corneal dystrophy The identification of this mutation allows the unambiguous classification of this corneal dystrophy as LCD type I in a family from Eastern Europe first report of mutations in the TGFBI gene in a series of Brazilian patients with corneal dystrophy Hereditary corneal dystrophies involve codon 124 mutation (Review) | | Human | PITX2 | 5308 | paired-like homeodomain 2 | INFERRED, Score=800, UMLKSK CUI: C0010035 | | Human | TACSTD2 | 4070 | tumor-associated calcium signal transducer 2 | study reports two novel mutations in two gelatinous drop-like corneal dystrophy families and expands the spectrum of mutations in TACSTD2 gene that may cause pathological corneal amyloidosis It is concluded that Gelatinous Drop-like Corneal Dystrophy (GDLD) in the pedigree is probably not caused by mutations in TACSTD2, supporting evidence for the existence of at least one other locus for GDLD | | Human | KRT12 | 3859 | keratin 12 | Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy Nonprogressive corneal dystrophy | | Human | KRT3 | 3850 | keratin 3 | Nonprogressive corneal dystrophy | | Human | GLA | 2717 | galactosidase, alpha | Whorl-like corneal dystrophy in heterozygous females and hemizygous males | | Human | COL8A2 | 1296 | collagen, type VIII, alpha 2 | No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy | | Human | CLU | 1191 | clusterin | INFERRED, Score=800, UMLKSK CUI: C0010035 |
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