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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00679 |
Hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD) |
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development ... | Inherited metabolic disorder |
(HLD1/PMD) PLP1 [HSA:5354] [KO:K17271] (HLD2) GJC2 [HSA:57165] [KO:K07619] (HLD3) AIMP1 [HSA:9255] [KO:K15437] (HLD4) HSPD1 [HSA:3329] [KO:K04077] (HLD5) FAM126A [HSA:84668] [KO:K21844] (HLD6) TUBB4A [HSA:10382] [KO:K07375] (HLD7) POLR3A [HSA:11128] [KO:K03018] (HLD8) POLR3B [HSA:55703] [KO:K03021] (HLD9) RARS1 [HSA:5917] [KO:K01887] (HLD10) PYCR2 [HSA:29920] [KO:K00286] (HLD11) POLR1C [HSA:9533] [KO:K03027] (HLD12) VPS11 [HSA:55823] [KO:K20179] (HLD13) HIKESHI [HSA:51501] [KO:K23327] (HLD14) UFM1 [HSA:51569] [KO:K12162] (HLD15) EPRS1 [HSA:2058] [KO:K14163] (HLD16) TMEM106B [HSA:54664] [KO:K25048] (HLD17) AIMP2 [HSA:7965] [KO:K15438] (HLD18) DEGS1 [HSA:8560] [KO:K04712] (HLD19) TMEM63A [HSA:9725] [KO:K21989] (HLD20) CNP [HSA:1267] [KO:K01121] (HLD21) POLR3K [HSA:51728] [KO:K03019] (HLD22) CLDN11 [HSA:5010] [KO:K06087] (HLD23) RNF220 [HSA:55182] [KO:K25174] (HLD24) ATP11A [HSA:23250] [KO:K26934] (HLD25) TMEM163 [HSA:81615] [KO:K14694] (HLD26) SLC35B2 [HSA:347734] [KO:K15276] (HLD27) POLR1A [HSA:25885] [KO:K02999] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |