| H00832 | |
| H number | H00832 |
| Name | Core neuroacanthocytosis syndromes |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (CHAC) VPS13A [HSA:23230] [KO:K19525] (MLS) XK [HSA:7504] [KO:K19522] (HDL2) JPH3 [HSA:57338] [KO:K19530] (PKAN) PANK2 [HSA:80025] [KO:K09680] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | McLeod syndrome is described in [HD:H00655]. Chorea-acanthocytosis is described in [HD:H01432]. PKAN is allelic with HARP syndrome. |
| Other DBs | ICD-11: 3A10.Y 8A01.1Y ICD-10: G23.0 OMIM: 200150 300842 606438 607236 |
| Reference | PMID:22027213 AUTHORS Jung HH, Danek A, Walker RH TITLE Neuroacanthocytosis syndromes. JOURNAL Orphanet J Rare Dis 6:68 (2011) DOI:10.1186/1750-1172-6-68 PMID:18567359 AUTHORS Ichiba M, Nakamura M, Sano A TITLE [Neuroacanthocytosis update]. JOURNAL Brain Nerve 60:635-41 (2008) DOI:10.11477/mf.1416100292 |