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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00832 | Core neuroacanthocytosis syndromes | 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 ... | Nervous system disease |
(CHAC) VPS13A [HSA:23230] [KO:K19525] (MLS) XK [HSA:7504] [KO:K19522] (HDL2) JPH3 [HSA:57338] [KO:K19530] (PKAN) PANK2 [HSA:80025] [KO:K09680] |
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| H01432 |
Choreoacanthocytosis Chorea-acanthocytosis |
... abnormalities with acanthocytic red blood cells. This disease caused by a variety of mutations in the VPS13A gene. The inheritance is mainly autosomal recessive, although apparent sporadic and autosomal ... | Nervous system disease | VPS13A [HSA:23230] [KO:K19525] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |