| H01296 | |
| H番号 | H01296 |
| 名称 | 圧迫麻痺性遺伝性ニューロパチー (HNPP) |
| 概要 | Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. HNPP is caused by a peripheral myelin protein (PMP22) gene deletion. PMP22 is duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A). The other identified underlying genetic defects in HNPP are point mutations in PMP22 that lead to premature or delayed translation. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | PMP22 [HSA:5376] [KO:K19289] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Charcot-Marie-Tooth disease is described in H00264. [DS:H00264] |
| リンク | ICD-11: 8C20.Y ICD-10: G60.0 MeSH: C536965 OMIM: 162500 |
| 文献 | PMID:12796555 著者 Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R タイトル HNPP due to a novel missense mutation of the PMP22 gene. 雑誌 Neurology 60:1863-4 (2003) DOI:10.1212/01.WNL.0000066049.13848.F2 PMID:19078663 著者 Kumar N, Muley S, Pakiam A, Parry GJ タイトル Phenotypic Variability Leads to Under-recognition of HNPP. 雑誌 J Clin Neuromuscul Dis 3:106-12 (2002) DOI:10.1097/00131402-200203000-00002 |