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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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| H00833 | Neurodegeneration with brain iron accumulation | ... pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phospholipase A2 (PLA2G6), and FTL (neuroferritinopathy) ... | Nervous system disease |
(NBIA1) PANK2 [HSA:80025] [KO:K09680] (NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343] (NBIA3) FTL [HSA:2512] [KO:K13625] (NBIA4) C19orf12 [HSA:83636] [KO:K23168] (NBIA5) WDR45 [HSA:11152] [KO:K22991] (NBIA6) COASY [HSA:80347] [KO:K02318] (NBIA7) REPS1 [HSA:85021] [KO:K20068] (NBIA8) CRAT [HSA:1384] [KO:K00624] (NBIA9) FTH1 [HSA:2495] [KO:K00522] |
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| H02208 |
Pantothenate kinase-associated neurodegeneration Hallervorden-Spatz disease Neurodegeneration with brain iron accumulation 1 |
... features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Mutations in PANK2 gene encoding the mitochondrial pantothenate kinase have been found in patients. | Nervous system disease | PANK2 [HSA:80025] [KO:K09680] | |
| H02209 | HARP syndrome | ... neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2). HARP is distinguished by a specific lipoprotein abnormality. Patients have decreased or absent ... | Nervous system disease | PANK2 [HSA:80025] [KO:K09680] |
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