| H00826 | |
| H番号 | H00826 |
| 名称 | 眼瞼裂狭小・眼瞼下垂・逆内眼角贅皮症候群 |
| 概要 | Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. The cardinal feature of this disease is a complex eyelid/ocular malformation such as blepharophimosis, ptosis, epicanthus inversus and telecanthus. The horizontal shortening of the palpebral aperture can lead to amblyopia. It is caused by mutations in FOXL2 gene that is involved in palpebral and ovarian development. Some of the female patients have premature ovarian failure (POF) and this condition is classified as BPES type I. BPES with normal ovarian function is referred to as BPES type II. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | FOXL2 [HSA:668] [KO:K09405] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Premature ovarian failure is described in H00627. |
| リンク | ICD-11: LD21.Y ICD-10: Q10.3 MeSH: C562419 OMIM: 110100 |
| 文献 | PMID:21957947 著者 Tyers AG タイトル The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). 雑誌 Orbit 30:199-201 (2011) DOI:10.3109/01676830.2010.547266 PMID:21696507 著者 Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA タイトル Blepharophimosis-ptosis-epicanthus inversus syndrome. 雑誌 Pediatr Int 53:390-2 (2011) DOI:10.1111/j.1442-200X.2010.03223.x PMID:21068205 著者 Fan JY, Han B, Qiao J, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ タイトル Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). 雑誌 Mutagenesis 26:283-9 (2011) DOI:10.1093/mutage/geq086 |