「シャルコー・マリー・トゥース病」の版間の差分

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| YARS || CMT-DIC ||  
| YARS || CMT-DIC ||  
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遺伝子略称一覧:GJB1: gap junction protein beta 1; MPZ: myelin protein zero; PMP22: peripheral myelin protein 22; PRX: ARHGEF10、periaxin; EGR2: early growth response 2; SOX10: XXXX;DNM2: dynamin 2; FIG4: XXX; GNB4: XXXX; LITAF: lipopolysaccharide-induced TNF-α factor; LRSAM1: XXX; LRSAM1: XXXX; MTMR2: myotubularin-related protein 2; RAB7: Ras-related GTPase 7; SBF2: SET-binding factor 2; SH3TC2: SH3 domain and tetratricopeptide repeats 2; TRIM2: XXXXX; TFG: XXX; FGD4: XXXX; MME: XXXX; NDRG1: N-myc downstream regulated 1; ARHGEF10: XXXX; HSPB1: heat shock protein 1; HSPB8: heat shock protein 8; KIF1B: XXXX; NEFH: neurofilament heavy chain polypeptide; NEFL: neurofilament light chain polypeptide; COX6A1: XXX; GDAP1: ganglioside-induced differentiation-associated protein 1; MFN2: mitofusin 2; PDK3: XXX; COA7: XXX; HK1: XXX; LMNA: lamin A/C; MORC2: XXXX; PRPS1: XXX; APTX: aprataxin; SETX: senataxin; TDP1: tyrosyl-DNA phosphodiesterase 1; [[TRPV4]]: XXX; SLC12A6: XXX; AARS: alanyl-ARS; GARS: glycyl-tRNA synthetase; HARS: XXX; KARS: lysyl-ARS; MARS: XXX; YARS: tyrosyl-ARS
遺伝子略称一覧:[[GJB1]]: [[gap junction protein beta 1]]; [[MPZ]]: [[myelin protein zero]]; [[PMP22]]: [[peripheral myelin protein 22]]; [[PRX]]: [[periaxin]]; [[DHH]]: [[desert hedgehog]]; [[EGR2]]: [[early growth response 2]]; [[SOX10]]: [[SRY-box transcription factor 10]]; [[DNM2]]: [[dynamin 2]]; [[FIG4]]: [[FIG4 phosphoinositide 5-phosphatase]]; [[GNB4]]: [[G protein subunit beta 4]]; [[LITAF]]: [[lipopolysaccharide-induced TNF-α factor]]; [[LRSAM1]]: [[leucine rich repeat and sterile alpha motif containing 1]]; [[MTMR2]]: [[myotubularin-related protein 2]]; [[RAB7]]: [[Ras-related GTPase 7]]; [[SBF2]]: [[SET-binding factor 2]]; [[SH3TC2]]: [[SH3 domain and tetratricopeptide repeats 2]]; [[TRIM2]]: [[tripartite motif containing 2]]; [[TFG]]: [[trafficking from ER to golgi regulator]]; [[FGD4]]: [[FYVE, RhoGEF and PH domain containing 4]]; [[MME: membrane metalloendopeptidase]]; [[NDRG1]]: [[N-myc downstream regulated 1]]; [[ARHGEF10]]: [[Rho guanine nucleotide exchange factor 10]]; [[HSPB1]]: [[heat shock protein 1]]; [[HSPB8]]: [[heat shock protein 8]]; [[KIF1B]]: [[kinesin family member 1B]]; [[NEFH]]: [[neurofilament heavy chain polypeptide]]; [[NEFL]]: [[neurofilament light chain polypeptide]]; [[GAN1]]: [[gigaxonin 1]]; [[COX6A1]]: [[cytochrome c oxidase subunit 6A1]]; [[GDAP1]]: [[ganglioside-induced differentiation-associated protein 1]]; [[MFN2]]: [[mitofusin 2]]; [[PDK3]]: [[pyruvate dehydrogenase kinase 3]]; [[COA7]]: [[cytochrome c oxidase assembly factor 7]]; [[HK1]]: [[hexokinase 1]]; [[LMNA]]: [[lamin A]]/C; [[MORC2]]: [[MORC family CW-type zinc finger 2]]; [[PRPS1]]: [[phosphoribosyl pyrophosphate synthetase 1]]; [[APTX]]: [[aprataxin]]; [[SETX]]: [[senataxin]]; [[TDP1]]: [[tyrosyl-DNA phosphodiesterase 1]]; [[TRPV4]]: [[transient receptor potential cation channel subfamily V member 4]]; [[SLC12A6]]: [[solute carrier family 12 member 6]] (=[[KCC3]]: [[K-Cl cotransporter family 3]]); [[AARS]]: [[alanyl-tRNA synthetase 1]]; [[GARS]]: [[glycyl-tRNA synthetase]]; [[HARS]]: [[histidyl-tRNA synthetase 1]]; [[KARS]]: [[lysyl-ARS]]; [[MARS]]: [[methionyl-tRNA synthetase 1]]; [[YARS]]: [[tyrosyl-tRNA synthetase 1]]


病名略称一覧:HNPP: hereditary neuropathy, with  liability to pressure palsies; PCWH: PCWH: Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; ALS: amyotrophic lateral sclerosis; SCA: spinocerebellar ataxia; GDMN: 46,XY gonadal dysgenesis with minifascifular neuropathy; dHMN: distal hereditary motor neuropathy; SCAN: spinocerebellar ataxia, autosomal recssive, with axonal neuropathy; AOA: ataxia-oculomotor apraxia; EDMD: Emery-Dreifuss muscular dystrophy; SMAJI: spinal muscular atrophy, infantile, James type
病名略称一覧:HNPP: hereditary neuropathy, with  liability to pressure palsies; PCWH: PCWH: Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; ALS: amyotrophic lateral sclerosis; SCA: spinocerebellar ataxia; GDMN: 46,XY gonadal dysgenesis with minifascifular neuropathy; dHMN: distal hereditary motor neuropathy; SCAN: spinocerebellar ataxia, autosomal recssive, with axonal neuropathy; AOA: ataxia-oculomotor apraxia; EDMD: Emery-Dreifuss muscular dystrophy; SMAJI: spinal muscular atrophy, infantile, James type