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CMT & HMSN: Demyelinating Dominant CMT 1A: PMP-22; 17p11 CMT 1B: P0 protein; 1q22 CMT 1C: LITAF; 16p13 CMT 1D: EGR2; 10q21 CMT 1E: P0 protein; 1q22 CMT 1F: Neurofilament light chain; 8p21 HNPP: PMP-22 deletion; 17p11 HMSN 3 (Dejerine-Sottas) PMP-22; P0; 8q23; EGR2 Thermosensitive PNS & CNS hypomyelination: SOX10; 22q13 Sensory PN + Hearing loss: Connexin-31; 1p35 Hypomyelin, No symptoms: ARHGEF10; 8p23 Recessive CMT 4A: GDA P1; 8q21 CMT 4B: MTMR2; 11q23 CMT 4B2: SBF2; 11p15 CMT 4C: SH3TC2 (KIAA1985); 5q32 CMT 4D (Lom): NDRG1; 8q24 CMT 4E: EGR2; 10q21 CMT 4F: Periaxin; 19q13 HMSN-Russe (4G): 10q23 CMT 4H: FGD4; 12q12 CMT 4J: FIG4; 6q21 HMSN 3 (Dejerine-Sottas) P0; PMP-22; EGR2; Periaxin HMSN + Juvenile glaucoma Cataracts (CCFDN): CTDP1; 18qter Cockayne's: 5 Congenital hypomyelinating P0, PMP-22 & EGR-2 Farber's lipogranulomatosis: Ceramidase; 8p22 Glycosylation deficient, Ia: PMM2; 16p13 Krabbe: GALC; 14q31 MLD: ARSA; 22q13 PMP-22 point mutations Refsum's disease Childhood: PHYH; 10pter-p11.2 Adolescent-Adult: PEX7; 6q22 Infant: PEX1; 7q21 HMSN + CNS: Heterogeneous X-linked Connexin-32 (GJB1): Xq13 Pyramidal signs |
CMT & HMSN: Axonal Dominant CMT 2A1: KIF1B; 1p36 CMT 2A2: MFN2; 1p36 CMT 2B: RAB7; 3q13-q22 CMT 2C: 12q23-q24 CMT 2D: GARS; 7p15 CMT 2E: Neurofilament light chain; 8p21 CMT 2F: HSPB1; 7q11-q21 CMT 2G: 12q12 CMT 2I: P0; 1q22 CMT 2J: P0; 1q22 CMT 2L: HSPB8; 12q24 HMSN-Proximal: 3q13 CMT 2: DNM2; 19p12 HMSN 5: Pyramidal signs HMSN + Optic atrophy HMSN + Deafness P0 Connexin-31 (GJB3) Eye ± Ear dysfunction HMSN 6 (+ Visual loss): MFN2; 1p36 HSMN + Ulcero-mutilation HSAN I HSMN + Ataxia: 7q22 HMN 5B: BSCL2; 11q13 Recessive AR-CMT2A: Lamin A/C; 1q21 AR-CMT2B: 19q13.3 AR-CMT + Hoarseness (CMT 2K): GDAP1; 8q21 AR-CMT + Pyramidal signs (CMT 2H): 8q21.3 Acrodystrophy Andermann (Corpus callosum Δ): KCC3; 15q13 Ataxia with neuropathy: TDP1; 14q31 Giant axonal: Gigaxonin; 16q24 HMSN + Optic neuropathy ± Deafness Infantile axonal + Respiratory failure Lethal Neonatal Neuroaxonal dystrophy Ouvrier: Early childhood onset Syndromes Childhood onset HMSN CNS + HMSN Deafness + HMSN X-linked Connexin-32 (Females): Xq13 2: Xp22.2 3: Xq26 4 (Cowchock): Xq24 5: PRPS1; Xq22 Sensory PN + Deafness: Xq23 |
CMT + Intermediate NCV Dominant CMT DIA: 10q24 CMT DIB: DNM2; 19p12 CMT DIC: tyrosyl-tRNA synthetase; 1p34 CMT DI3: P0; 1q22 CMT-X (Semi-dominant) CMT 2E: Neurofilament light chain; 8p21 Recessive CMT RIA: GDA P1; 8q21.1 Charcot-Marie-Tooth (CMT) Features: Comparative; General External link: Mutation database Other related names or disorders α-Methylacyl-CoA racemase {AMACR} Brachial plexopathy, Hereditary Childhood onset neuropathies CNS & Cranial nerve disorders Complex clinical syndromes Congenital Hypomyelinating EGR2: 10q21 P0: 1q22 PMP-22: 17p11 ARHGEF10; 8p23 Cowchock Dejerine-Sottas (HMSN 3) Focally folded myelin sheaths CMT 4B: MTMR2; 11q23 CMT 4B2: SBF2; 11p15 CMT 4E: EGR2; 10q21 CMT 4F: Periaxin; 19q13 P0: 1q22 Juvenile glaucoma Hereditary Distal motor neuropathies Sensory neuropathies Liability to pressure palsies Metabolic abnormalities Minifascicles & Gonadal dysgenesis HMSN HSN: DHH; 12q12 Myelin disorders; Recessive Myelin proteins Vertical talus: HOXD10; 2q31; Dominant |
Prevalence
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CMT IA types PMP-22 duplication PMP-22 point mutation Other mutations Homozygote Recessive PMP-22 Clinical-Genetic correlations Gene mutations Protein Also see: HNPP |
![]() Duchenne |
CMT 1A
PMP-22 duplication |
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P0: Genetic features P0 protein P0 Clinical syndromes CMT 1B: Dominant; Demyelinating CMT 1E: Dominant; Demyelinating, Hearing loss CMT 2I: Dominant; Axonal CMT 2J: Dominant; Axonal; Pupil disorders; Hearing loss CMT-DI3: Dominant; Intermediate nerve conductions Congenital hypomyelinating neuropathy: Recessive; Demyelinating Dejerine-Sottas: Dominant or Recessive; Demyelinating Steroid responsive, Late-onset: Dominant; Demyelinating Adult onset (Axonal) P0 variant syndromes |
P0 |
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Type 1 Variants Type 2 Type 3 Type 4 (Cowchock) Type 5 Pyramidal signs |
CMT 1X
R142W mutation |
![]() From: A Kornberg |
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| CMT 2A2 |
![]() From: B Baloh MD |
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| CMT 2A2 |
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AR-CMT2A: 1q21 AR-CMT2B: 19q13.3 AR-CMT2-Acrodystrophy AR-CMT2-Ouvrier: Early childhood onset Andermann (Corpus callosum Δ): 15q13 CMT X-linked HMSN + CNS: Heterogeneous Giant axonal neuropathy: Gigaxonin; 16q24 HMSN + Deafness HMSN + Optic neuropathy ± Deafness Lethal Neonatal Neuroaxonal dystrophy |