Klinische FragestellungNeuropathie, CMT1/-4 / HMSNI/-IV, demyelinisierend, AD/AR; Differentialdiagnose

NGS +

Gruppe von Erkrankungen

• Alias: CMT1/-4
• Alias: HMSNI/-IV
• Alias: Polyneuropathie
• Alias: Polyneuropathy
• Allelic: Amyotrophic lateral sclerosis 11 (FIG4)
• Allelic: Centronuclear myopathy 1 (DNM2)
• Allelic: Charcot-Marie-Tooth disease, type 2E (NEFL)
• Allelic: Charcot-Marie-Tooth disease, type 2I (MPZ)
• Allelic: Charcot-Marie-Tooth disease, type 2J (MPZ)
• Allelic: Cutis laxa, AD 2 (FBLN5)
• Allelic: Cutis laxa, AR, type IA (FBLN5)
• Allelic: Deafness, AR 89 (KARS1)
• Allelic: Glomerulosclerosis, focal segmental, 5 (INF2)
• Allelic: Lethal congenital contracture syndrome 5 (DNM2)
• Allelic: Lethal congenital contracture syndrome 7 (CNTNAP1)
• Allelic: Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
• Allelic: Macular degeneration, age-related, 3 (FBLN5)
• Allelic: Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
• Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
• Allelic: Retinitis pigmentosa 79 (HK1)
• Allelic: Roussy-Levy syndrome (MPZ)
• Allelic: Roussy-Levy syndrome (PMP22)
• Allelic: Spinal muscular atrophy, distal, autosomal recessive, 4 (PLEKHG5)
• Allelic: Yunis-Varon syndrome (FIG4)
• Charcot-Marie-Tooth disease, DI, B (DNM2)
• Charcot-Marie-Tooth disease, DI, C (YARS1)
• Charcot-Marie-Tooth disease, DI, D (MPZ)
• Charcot-Marie-Tooth disease, DI, E (INF2)
• Charcot-Marie-Tooth disease, DI, F (GNB4)
• Charcot-Marie-Tooth disease, DI, G (NEFL)
• Charcot-Marie-Tooth disease, RI, B (KARS1)
• Charcot-Marie-Tooth disease, RI, C (PLEKHG5)
• Charcot-Marie-Tooth disease, RI, D (COX6A1)
• Charcot-Marie-Tooth disease, XLI [OMIM: CMTX1] (DRP2)
• Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Charcot-Marie-Tooth disease, demyelinating, type 1G (PMP2)
• Charcot-Marie-Tooth disease, demyelinating, type 1H (FBLN5)
• Charcot-Marie-Tooth disease, type 1A (PMP22)
• Charcot-Marie-Tooth disease, type 1B (MPZ)
• Charcot-Marie-Tooth disease, type 1C (LITAF)
• Charcot-Marie-Tooth disease, type 1D (EGR2)
• Charcot-Marie-Tooth disease, type 1E (PMP22)
• Charcot-Marie-Tooth disease, type 1F (NEFL)
• Charcot-Marie-Tooth disease, type 4A (GDAP1)
• Charcot-Marie-Tooth disease, type 4B1 (MTMR1)
• Charcot-Marie-Tooth disease, type 4B2 (SBF2)
• Charcot-Marie-Tooth disease, type 4B3 (SBF1)
• Charcot-Marie-Tooth disease, type 4C (SBF2)
• Charcot-Marie-Tooth disease, type 4D ["Gypsy"] (NDRG1)
• Charcot-Marie-Tooth disease, type 4E (EGR2, MPZ)
• Charcot-Marie-Tooth disease, type 4F (PRX)
• Charcot-Marie-Tooth disease, type 4H (FGD4)
• Charcot-Marie-Tooth disease, type 4J (FIG4)
• Charcot-Marie-Tooth disease, type 4K (SURF1)
• Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
• Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
• Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
• Dejerine-Sottas disease (EGR2, MPZ, PMP22, PRX)
• Hemolytic anemia due to hexokinase deficiency (HK1)
• Hypomyelinating neuropathy, congenital, 1 (EGR2)
• Hypomyelinating neuropathy, congenital, 2 (MPZ)
• Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
• Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS1)
• Mononeuropathy of the median nerve, mild (SBF2)
• Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
• Neuropathy, inflammatory demyelinating (PMP22)
• Neuropathy, recurrent, with pressure palsies (PMP22)
• Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)