Corneal Dystrophy
| Gene Symbol | Aliases | Full Gene Name |
Chr | Disorder | Mode of Inheritance | OMIM | HGNC ID |
| COL8A2 | RP4-665N4.3; FECD; FLJ00201; MGC116970; MGC116972; PPCD; PPCD2 | collagen, type VIII, alpha 2 |
1p34.2 | FECD1, PPCD2 | autosomal dominant | *120252 | HGNC:2216 |
| TGFBI | BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1 | transforming growth factor, beta-induced, 68-KD |
5q31 | CDA, LCD1, CDL3A, CDB1, EBMD, CDGG1 | autosomal dominant | *601692 | HGNC:11771 |
| VSX1 | KTCN; PPCD; PPD; RINX | visual system homeobox 1 | 20p11.2 | KTCN1, PPCD1 | autosomal dominant | *605020 | HGNC:12723 |
| CHST6 | MCDC1 | carbohydrate (N-acetylglu-cosamine 6-O) sulfotrans- ferase 6 |
16q22 | MCD | autosomal recessive | *605294 | HGNC:6938 |
| KRT3 | K3; CK3; FLJ95909 | keratin 3 | 12q12-q13 | MECD | autosomal dominant | *148043 | HGNC:6440 |
| KRT12 | 12.6.10 | keratin 12 | 17q12 | MECD | autosomal dominant | *601687 | HGNC:6414 |
| GSN | RP11-477J21.1; DKFZp313L0718 | gelsolin (amyloidosis, Finnish type) | 9q33 | LCD2 | autosomal dominant | *137350 | HGNC:4620 |
| TACSTD2 | EGP-1; GA733; GA733-1; M1S1; TROP2 | tumor-associated calcium signal transducer 2 | 1p32-p31 | GDLD | autosomal recessive | *137290 | HGNC:11530 |
| CYP4V2 | BCD; CYP4AH1; FLJ18432; MGC43534; CYP4V2 | cytochrome P450, family 4, subfamily V, polypeptide 2 | 4q35.2 | BCD | autosomal recessive | *608614 | HGNC:23198 |
| SOD1 | ALS; ALS1; IPOA; SOD | superoxide dismutase 1, soluble | 21q22.11 | KTCN1 | autosomal dominant | *147450 | HGNC:11179 |
| TCF8/ZEB1 | RP11-472N13.4; AREB6; BZP; DELTA-EF1; MGC133261; NIL-2-A; NIL-2A; NIL2A; TCF8; ZEB; ZFHEP; ZFHX1A | zinc finger E-box binding homeobox 1 |
10p11.2 | PPCD3 | autosomal dominant | *189909 | HGNC:11642 |
| SLC4A11 | BTR1; CDPD; CDPD1; CHED2; NABC1; MGC126418; MGC126419; dJ794I6.2; SLC4A11 | solute carrier family 4, sodium borate transporter, member 11 |
20p12 | CHED2, CDPD | autosomal recessive, autosomal dominant | *610206 | HGNC:16438 |
| UBIAD1 | SCCD; TERE1; RP4-796F18.1; UBIAD1 | UbiA prenyltransferase domain containing 1 | 1p36.22 | SCD | autosomal dominant | *611632 | HGNC:30791 |
FECD1 – Fuchs Endothelial Corneal Dystrophy 1 (early onset)
PPCD1 – Posterior Polymorphous Corneal Dystrophy 1
PPCD2 – Posterior Polymorphous Corneal Dystrophy 2
PPCD3 – Posterior Polymorphous Corneal Dystrophy 3
CDA – Avellino Type Corneal Dystrophy
LCD1 – Lattice Corneal Dystrophy Type I
LCD2 – Lattice Corneal Dystrophy Type II (Amyloidosis, Finnish Type)
CDL3A – Lattice Corneal Dystrophy Type IIIA
CDB1 – Corneal Dystrophy of Bowman Layer, Type I
EBMD – Epithelial Basement Membrane Corneal Dystrophy
CDGG1 – Groenouw Corneal Dystrophy Type I
KTCN1 – Keratoconus 1
MCD – Macular Dystrophy, Type I, Type II
MECD – Meesmann Corneal Dystrophy
GDLD – Gelatinous Drop-like Corneal Dystrophy (Lattice Corneal Dystrophy Type III)
BCD – Bietti Crystalline Corneoretinal Dystrophy
CHED2 – Corneal Endothelial Dystrophy 2
CDPD – Corneal Dystrophy and Perceptive Deafness
SCD – Schnyder’s Crystalline Corneal Dystrophy
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