| H01112 | |
| H番号 | H01112 |
| 名称 | PMSE 症候群 |
| 概要 | Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 C-terminal residues of the protein. Individuals affected by this condition suffer from severe mental retardation, gross movement disorders, and childhood mortality. Severe intractable epilepsy and megalencephaly are characteristic. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06522(H01112) mTOR signaling |
| 病因遺伝子 | STRADA [HSA:92335] [KO:K08271] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | MeSH: C567020 OMIM: 611087 |
| 文献 | PMID:21263450 著者 Goodarzi MO, Dumesic DA, Chazenbalk G, Azziz R タイトル Polycystic ovary syndrome: etiology, pathogenesis and diagnosis. 雑誌 Nat Rev Endocrinol 7:219-31 (2011) DOI:10.1038/nrendo.2010.217 PMID:33605605 (STRADA) 著者 Aerden M, Vallaeys L, Holvoet M, De Waele L, Van Den Bogaert K, Devriendt K タイトル Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. 雑誌 Clin Dysmorphol 30:121-124 (2021) DOI:10.1097/MCD.0000000000000368 |