| H00832 | |
| H番号 | H00832 |
| 名称 | 中核群神経有棘赤血球症 |
| 概要 | Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups of NA disorders characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (CHAC) VPS13A [HSA:23230] [KO:K19525] (MLS) XK [HSA:7504] [KO:K19522] (HDL2) JPH3 [HSA:57338] [KO:K19530] (PKAN) PANK2 [HSA:80025] [KO:K09680] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | McLeod syndrome is described in [HD:H00655]. Chorea-acanthocytosis is described in [HD:H01432]. PKAN is allelic with HARP syndrome. |
| リンク | ICD-11: 3A10.Y 8A01.1Y ICD-10: G23.0 OMIM: 200150 300842 606438 607236 |
| 文献 | PMID:22027213 著者 Jung HH, Danek A, Walker RH タイトル Neuroacanthocytosis syndromes. 雑誌 Orphanet J Rare Dis 6:68 (2011) DOI:10.1186/1750-1172-6-68 PMID:18567359 著者 Ichiba M, Nakamura M, Sano A タイトル [Neuroacanthocytosis update]. 雑誌 Brain Nerve 60:635-41 (2008) DOI:10.11477/mf.1416100292 |