| H00826 | |
| H number | H00826 |
| Name | Blepharophimosis-ptosis-epicanthus inversus syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | FOXL2 [HSA:668] [KO:K09405] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Premature ovarian failure is described in H00627. |
| Other DBs | ICD-11: LD21.Y ICD-10: Q10.3 MeSH: C562419 OMIM: 110100 |
| Reference | PMID:21957947 AUTHORS Tyers AG TITLE The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). JOURNAL Orbit 30:199-201 (2011) DOI:10.3109/01676830.2010.547266 PMID:21696507 AUTHORS Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA TITLE Blepharophimosis-ptosis-epicanthus inversus syndrome. JOURNAL Pediatr Int 53:390-2 (2011) DOI:10.1111/j.1442-200X.2010.03223.x PMID:21068205 AUTHORS Fan JY, Han B, Qiao J, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ TITLE Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). JOURNAL Mutagenesis 26:283-9 (2011) DOI:10.1093/mutage/geq086 |