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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02262 |
PEBEL Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy |
... finally to death within the first 3 years of life. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause PEBEL1. Biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) cause PEBEL2. | Nervous system disease |
(PABEL1) NAXE [HSA:128240] [KO:K17759] (PABEL2) NAXD [HSA:55739] [KO:K17757] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |