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Entry | Name | Description | Category | Pathway | Gene |
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H00209 | Menkes syndrome | Menkes disease (MD) is an X-linked recessive disorder of copper deficiency caused by mutation of a copper-transporting P-type ATPase, resulting in dysfunction of copper-dependent enzymes. The patients ... | Inherited metabolic disorder | ATP7A [HSA:538] [KO:K17686] | |
H00455 | Spinal muscular atrophy | Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by ... | Neurodegenerative disease |
(SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129] (SMA3) SMN2 [HSA:6607] [KO:K13129] (SMAX1) AR [HSA:367] [KO:K08557] (SMAX2) UBA1 [HSA:7317] [KO:K03178] (SMAX3) ATP7A [HSA:538] [KO:K17686] (SMAPAD) VAPB [HSA:9217] [KO:K10707] (SMALED1) DYNC1H1 [HSA:1778] [KO:K10413] (SMALED2) BICD2 [HSA:23299] [KO:K18739] (SMAJI) GARS1 [HSA:2617] [KO:K01880] |
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H00856 | Distal hereditary motor neuropathies | Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory ... | Nervous system disease |
(HMND2) HSPB8 [HSA:26353] [KO:K08879] (HMND3) HSPB1 [HSA:3315] [KO:K04455] (HMND4) HSPB3 [HSA:8988] [KO:K09544] (HMND5) GARS1 [HSA:2617] [KO:K01880] (HMND6) FBXO38 [HSA:81545] [KO:K10313] (HMND7) SLC5A7 [HSA:60482] [KO:K14387] (HMND8) TRPV4 [HSA:59341] [KO:K04973] (HMND9) WARS1 [HSA:7453] [KO:K01867] (HMND10) EMILIN1 [HSA:11117] [KO:K24246] (HMND11) SPTAN1 [HSA:6709] [KO:K06114] (HMND12/HMNR6) REEP1 [HSA:65055] [KO:K17338] (HMND13) BSCL2 [HSA:26580] [KO:K19365] (HMND14) DCTN1 [HSA:1639] [KO:K04648] (HMNR1) IGHMBP2 [HSA:3508] [KO:K19036] (HMNR2) SIGMAR1 [HSA:10280] [KO:K20719] (HMNR4) PLEKHG5 [HSA:57449] [KO:K19464] (HMNR5) DNAJB2 [HSA:3300] [KO:K09508] (HMNR7) VWA1 [HSA:64856] [KO:K24507] (HMNR8) SORD [HSA:6652] [KO:K00008] (HMNR9) COQ7 [HSA:10229] [KO:K06134] (HMNR10) VRK1 [HSA:7443] [KO:K08816] (HMNX) ATP7A [HSA:538] [KO:K17686] |
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H01859 | Occipital horn syndrome | ... (MD). MD and OHS are X-linked recessive disorders of impaired copper metabolism due to mutations in the ATP7A gene. The patients with classical MD have severe developmental and neurological impairments due ... | Congenital malformation | ATP7A [HSA:538] [KO:K17686] |
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