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Entry | Name | Description | Category | Pathway | Gene |
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H00120 | Muscular dystrophy-dystroglycanopathy type A | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
(MDDGA1) POMT1 [HSA:10585] [KO:K00728] (MDDGA2) POMT2 [HSA:29954] [KO:K00728] (MDDGA3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGA4) FKTN [HSA:2218] [KO:K19872] (MDDGA5) FKRP [HSA:79147] [KO:K19873] (MDDGA6) LARGE [HSA:9215] [KO:K09668] (MDDGA7) CRPPA [HSA:729920] [KO:K21031] (MDDGA8) POMGNT2 [HSA:84892] [KO:K18207] (MDDGA9) DAG1 [HSA:1605] [KO:K06265] (MDDGA10) RXYLT1 [HSA:10329] [KO:K21052] (MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654] (MDDGA12) POMK [HSA:84197] [KO:K17547] (MDDGA13) B4GAT1 [HSA:11041] [KO:K21032] (MDDGA14) GMPPB [HSA:29925] [KO:K00966] |
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H00590 | Congenital muscular dystrophies (CMD/MDC) | ... integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP), Large, and ISPD; defects in ER and nuclear ... | Nervous system disease; Musculoskeletal disease |
(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583] (LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641] (MDCDC) TRIP4 [HSA:9325] [KO:K23398] (MDCMC) CHKB [HSA:1120] [KO:K14156] (MDCCAID) INPP5K [HSA:51763] [KO:K24222] (MDRP) BET1 [HSA:10282] [KO:K08504] |
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H00593 | Limb-girdle muscular dystrophy | Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital ... | Nervous system disease; Musculoskeletal disease |
(LGMDD1) DNAJB6 [HSA:10049] [KO:K09512] (LGMDD2) TNPO3 [HSA:23534] [KO:K15436] (LGMDD3) HNRNPDL [HSA:9987] [KO:K13044] (LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573] (LGMDR2) DYSF [HSA:8291] [KO:K18261] (LGMDR3) SGCA [HSA:6442] [KO:K12565] (LGMDR4) SGCB [HSA:6443] [KO:K12566] (LGMDR5) SGCG [HSA:6445] [KO:K12564] (LGMDR6) SGCD [HSA:6444] [KO:K12563] (LGMDR7) TCAP [HSA:8557] [KO:K19879] (LGMDR8) TRIM32 [HSA:22954] [KO:K10607] (LGMDR9) FKRP [HSA:79147] [KO:K19873] (LGMDR10) TTN [HSA:7273] [KO:K12567] (LGMDR11) POMT1 [HSA:10585] [KO:K00728] (LGMDR12) ANO5 [HSA:203859] [KO:K19480] (LGMDR13) FKTN [HSA:2218] [KO:K19872] (LGMDR14) POMT2 [HSA:29954] [KO:K00728] (LGMDR15) POMGNT1 [HSA:55624] [KO:K09666] (LGMDR16) DAG1 [HSA:1605] [KO:K06265] (LGMDR17) PLEC [HSA:5339] [KO:K10388] (LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308] (LGMDR19) GMPPB [HSA:29925] [KO:K00966] (LGMDR20) CRPPA [HSA:729920] [KO:K21031] (LGMDR21) POGLUT1 [HSA:56983] [KO:K13667] (LGMDR23) LAMA2 [HSA:3908] [KO:K05637] (LGMDR24) POMGNT2 [HSA:84892] [KO:K18207] (LGMDR25) BVES [HSA:11149] [KO:K21108] (LGMDR26) POPDC3 [HSA:64208] [KO:K26207] (LGMDR27) JAG2 [HSA:3714] [KO:K21635] (LGMDR28) HMGCR [HSA:3156] [KO:K00021] (LGMDR29) SNUPN [HSA:10073] [KO:K13151] (MDRCMTT) LIMS2 [HSA:55679] [KO:K23354] (MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001] |
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H01959 | Muscular dystrophy-dystroglycanopathy type C | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
(MDDGC1) POMT1 [HSA:10585] [KO:K00728] (MDDGC2) POMT2 [HSA:29954] [KO:K00728] (MDDGC3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGC4) FKTN [HSA:2218] [KO:K19872] (MDDGC5) FKRP [HSA:79147] [KO:K19873] (MDDGC7) CRPPA [HSA:729920] [KO:K21031] (MDDGC8) POMGNT2 [HSA:84892] [KO:K18207] (MDDGC9) DAG1 [HSA:1605] [KO:K06265] (MDDGC12) POMK [HSA:84197] [KO:K17547] (MDDGC14) GMPPB [HSA:29925] [KO:K00966] (MDDGC15) DPM3 [HSA:54344] [KO:K09659] |
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H01960 | Muscular dystrophy-dystroglycanopathy type B | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
(MDDGB1) POMT1 [HSA:10585] [KO:K00728] (MDDGB2) POMT2 [HSA:29954] [KO:K00728] (MDDGB3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGB4) FKTN [HSA:2218] [KO:K19872] (MDDGB5/MDC1C) FKRP [HSA:79147] [KO:K19873] (MDDGB6/MDC1D) LARGE1 [HSA:9215] [KO:K09668] (MDDGB14) GMPPB [HSA:29925] [KO:K00966] (MDDGB15) DPM3 [HSA:54344] [KO:K09659] |
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H02307 | Muscular dystrophy-dystroglycanopathy | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
POMT1 [HSA:10585] [KO:K00728] POMT2 [HSA:29954] [KO:K00728] POMGNT1 [HSA:55624] [KO:K09666] FKTN [HSA:2218] [KO:K19872] FKRP [HSA:79147] [KO:K19873] LARGE [HSA:9215] [KO:K09668] ISPD [HSA:729920] [KO:K21031] GTDC2 [HSA:84892] [KO:K18207] DAG1 [HSA:1605] [KO:K06265] TMEM5 [HSA:10329] [KO:K21052] B3GALNT2 [HSA:148789] [KO:K09654] POMK [HSA:84197] [KO:K17547] B3GNT1 [HSA:11041] [KO:K21032] GMPPB [HSA:29925] [KO:K00966] |
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