| H00789 | |
| H番号 | H00789 |
| 名称 | 円錐角膜 |
| 概要 | Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial. |
| カテゴリ | 神経系疾患 |
| ネットワーク | nt06515(H00789) Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (KTCN1) VSX1 [HSA:30813] [KO:K09335] (KTCN9) TUBA3D [HSA:113457] [KO:K07374] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Keratoconus can also be found in sydromic conditions such as Down syndrome, mitral valve prolapse [DS:H00661], Marfan syndrome [DS:H00653], and Ehlers-Danlos syndrome [DS:H00802]. |
| リンク | ICD-11: 9A78.50 ICD-10: H19.8 Q87.8 MeSH: D007640 OMIM: 148300 617928 |
| 文献 | PMID:11778802 著者 Edwards M, McGhee CN, Dean S タイトル The genetics of keratoconus. 雑誌 Clin Experiment Ophthalmol 29:345-51 (2001) DOI:10.1046/j.1442-9071.2001.d01-16.x PMID:20537579 著者 Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS タイトル Keratoconus: a review. 雑誌 Cont Lens Anterior Eye 33:157-66; quiz 205 (2010) DOI:10.1016/j.clae.2010.04.006 PMID:11978762 (VSX1) 著者 Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM タイトル VSX1: a gene for posterior polymorphous dystrophy and keratoconus. 雑誌 Hum Mol Genet 11:1029-36 (2002) DOI:10.1093/hmg/11.9.1029 PMID:29051577 (TUBA3D) 著者 Hao XD, Chen P, Zhang YY, Li SX, Shi WY, Gao H タイトル De novo mutations of TUBA3D are associated with keratoconus. 雑誌 Sci Rep 7:13570 (2017) DOI:10.1038/s41598-017-13162-0 |