| H00726 | |
| H番号 | H00726 |
| 名称 | メースマン角膜上皮変性症 |
| 概要 | Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases are inherited as autosomal dominant traits. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | KRT3 [HSA:3850] [KO:K07605] KRT12 [HSA:3859] [KO:K07604] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9A70.Y ICD-10: H18.5 MeSH: D053559 OMIM: 122100 |
| 文献 | PMID:12688839 著者 Smith F タイトル The molecular genetics of keratin disorders. 雑誌 Am J Clin Dermatol 4:347-64 (2003) DOI:10.2165/00128071-200304050-00005 PMID:17986293 著者 Ehlers N, Hjortdal J, Nielsen K, Thiel HJ, Orntoft T タイトル Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family. 雑誌 Acta Ophthalmol 86:40-4 (2008) DOI:10.1111/j.1600-0420.2007.00931.x PMID:18806880 著者 Szaflik JP, Oldak M, Maksym RB, Kaminska A, Pollak A, Udziela M, Ploski R, Szaflik J タイトル Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. 雑誌 Mol Vis 14:1713-8 (2008) PMID:17653038 著者 Sullivan LS, Baylin EB, Font R, Daiger SP, Pepose JS, Clinch TE, Nakamura H, Zhao XC, Yee RW タイトル A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 雑誌 Mol Vis 13:975-80 (2007) |