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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00665 | Mandibuloacral dysplasia | ... in LMNA or ZMPSTE24 are responsible for the disorder. Recently, a novel MAD progeroid syndrome due to recessive mutations in MTX2 has been reported. MTX2 encodes an outer mitochondrial membrane protein. | Congenital malformation |
(MADA) LMNA [HSA:4000] [KO:K12641] (MADB) ZMPSTE24 [HSA:10269] [KO:K06013] (MDPS) MTX2 [HSA:10651] [KO:K17776] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |