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Entry Name Description Category Pathway Gene
H00663 Restrictive dermopathy ... dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures ... Congenital malformation (RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013]
(RSDM2) LMNA [HSA:4000] [KO:K12641]
H00665 Mandibuloacral dysplasia ... appearance at birth, then progressively develop dysmorphic skeletal features. Mutations in LMNA or ZMPSTE24 are responsible for the disorder. Recently, a novel MAD progeroid syndrome due to recessive mutations ... Congenital malformation (MADA) LMNA [HSA:4000] [KO:K12641]
(MADB) ZMPSTE24 [HSA:10269] [KO:K06013]
(MDPS) MTX2 [HSA:10651] [KO:K17776]
H02677 Progeroid laminopathy ... aging. It can be caused by mutations in the A-type lamin gene (LMNA), altering prelamin A itself, or in ZMPSTE24, encoding an endoprotease involved in its processing. Apart from some atypical progeroid forms ... Congenital malformation LMNA [HSA:4000] [KO:K12641]
ZMPSTE24 [HSA:10269] [KO:K06013]
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