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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02299 | Arthrogryposis multiplex congenita | Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental ... | Congenital malformation |
(AMC1) LGI4 [HSA:163175] [KO:K25430] (AMC2) ERGIC1 [HSA:57222] [KO:K20365] (AMC3) SYNE1 [HSA:23345] [KO:K19326] (AMC4) SCYL2 [HSA:55681] [KO:K17541] (AMC5) TOR1A [HSA:1861] [KO:K22990] (AMC6) NEB [HSA:4703] [KO:K18267] |
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| H02358 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | ... multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its ... | Nervous system disease | LGI4 [HSA:163175] [KO:K25430] |
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