Klinische FragestellungNeuropathie, hereditär, infantil/juvenil; Differentialdiagnose

NGS +

Gruppe von Erkrankungen

• Alias: Charcot-Marie-Tooth disease
• Alias: Distal hereditary motor neuropathy
• Alias: Distal spinal muscular atrophy
• Alias: Distale spinale Muskelatrophie (DSMA)
• Alias: Polyneuropathie
• Allelic: Alpha-aminoadipic + alpha-ketoadipic aciduria (DHTKD1)
• Allelic: Arts syndrome (PRPS1)
• Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
• Allelic: Centronuclear myopathy 1 (DNM2)
• Allelic: Combined oxidative phosphorylation deficiency 6 (AIFM1)
• Allelic: Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Allelic: Cutis laxa, AD 2 (FBLN5)
• Allelic: Cutis laxa, AR, type IA (FBLN5)
• Allelic: Deafness, AD 4A (MYH14)
• Allelic: Deafness, AR 89 (KARS1)
• Allelic: Deafness, XL 1 (PRPS1)
• Allelic: Deafness, XL 5 (AIFM1)
• Allelic: Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
• Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
• Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
• Allelic: Glomerulosclerosis, focal segmental, 5 (INF2)
• Allelic: Gout, PRPS-related (PRPS1)
• Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
• Allelic: Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VVCP)
• Allelic: Interstitial lung + liver disease (MARS1)
• Allelic: Lethal congenital contracture syndrome 5 (DNM2)
• Allelic: Lethal congenital contracture syndrome 7 (CNTNAP1)
• Allelic: Lipodystrophy, congenital generalized, type (BSCL2)
• Allelic: Macular degeneration, age-related, 3 (FBLN5)
• Allelic: Menkes disease (ATP7A)
• Allelic: Mental retardation, AD 13 (DYNC1H1)
• Allelic: Microcephaly, seizures + developmental delay (PNKP)
• Allelic: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type (MPV17)
• Allelic: Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
• Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
• Allelic: Myoclonus, intractable, neonatal (KIF5A)
• Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
• Allelic: Myopia 6 (SCO2)
• Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
• Allelic: Occipital horn syndrome (ATP7A)
• Allelic: Perry syndrome (DCTN1)
• Allelic: Pheochromocytoma (KIF1B)
• Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
• Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
• Allelic: Pontocerebellar hypoplasia, type 1E (SIGMAR1)
• Allelic: Retinitis pigmentosa 79 (HK1)
• Allelic: Silver spastic paraplegia syndrome (BSCL2)
• Allelic: Usher syndrome type 3B (HARS1)
• Allelic: Yunis-Varon syndrome (FIG4)
• Amyloidosis, hereditary, transthyretin-related (TTR)
• Amyotrophic lateral sclerosis 11 (FIG4)
• Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
• Amyotrophic lateral sclerosis 4, juvenile (SETX)
• Amyotrophic lateral sclerosis 5, juvenile (SSPG11)
• Amyotrophic lateral sclerosis, susceptibility to (NEFH)
• Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
• Basel-Vanagait-Smirin-Yosef syndrome (MED25)
• Carpal tunnel syndrome, familial (TTR)
• 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 A (GDAP1)
• Charcot-Marie-Tooth disease, RI C (PLEKHG5)
• Charcot-Marie-Tooth disease, RI D (COX6A1)
• Charcot-Marie-Tooth disease, RI, B (KARS1)
• Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
• Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
• Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
• Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
• Charcot-Marie-Tooth disease, axonal, type 2CC (NEFH)
• Charcot-Marie-Tooth disease, axonal, type 2DD (ATP1A1)
• Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
• Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
• Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
• Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
• Charcot-Marie-Tooth disease, axonal, type 2M (DNM2)
• Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
• Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
• Charcot-Marie-Tooth disease, axonal, type 2P (LRSAM1)
• Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
• Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
• Charcot-Marie-Tooth disease, axonal, type 2T (MME)
• Charcot-Marie-Tooth disease, axonal, type 2U (MARS1)
• Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
• Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
• Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
• Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
• Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
• Charcot-Marie-Tooth disease, demyelinating, type 1G (PMP2)
• 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 2A1 (KIF1B)
• Charcot-Marie-Tooth disease, type 2A? (DGAT2)
• Charcot-Marie-Tooth disease, type 2B (RAB7)
• Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Charcot-Marie-Tooth disease, type 2B2 (PNKP)
• Charcot-Marie-Tooth disease, type 2D (GARS1)
• Charcot-Marie-Tooth disease, type 2E (NEFL)
• Charcot-Marie-Tooth disease, type 2I (MPZ)
• Charcot-Marie-Tooth disease, type 2J (MPZ)
• Charcot-Marie-Tooth disease, type 2R (TRIM2)
• Charcot-Marie-Tooth disease, type 2Y (VCP)
• Charcot-Marie-Tooth disease, type 4A (GDAP1)
• Charcot-Marie-Tooth disease, type 4B1 (MTMR2)
• Charcot-Marie-Tooth disease, type 4B2 (SBF2)
• Charcot-Marie-Tooth disease, type 4B3 (SBF1)
• Charcot-Marie-Tooth disease, type 4C (SH3TC2)
• 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)
• Charcot-Marie-Tooth neuropathy, XLI (DRP2)
• Combined oxidative phosphorylation deficiency 7 (MTRFR syn. C12orf65)
• Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
• Cowchock syndrome (AIFM1)
• Dejerine-Sottas disease (EGR2, MPZ, PMP22, PRX)
• Developmental + epileptic encephalopathy 29 (AARS1)
• Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
• Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Giant axonal neuropathy 1 (GAN)
• Giant axonal neuropathy 2, AD (DCAF8)
• Hereditary motor + sensory neuropathy VIA (MFN2)
• Hereditary motor + sensory neuropathy, Okinawa type (TFG)
• Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
• Hypomyelinating neuropathy, congenital, 1 (EGR2)
• Hypomyelinating neuropathy, congenital, 2 (MPZ)
• Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
• Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS1)
• Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
• Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
• Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
• Mononeuropathy of the median nerve, mild (SH3TC2)
• Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
• Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Neuromyotonia + axonal neuropathy, AR (HINT1)
• Neuronopathy, distal hereditary motor, type IIA (HSPB8)
• Neuronopathy, distal hereditary motor, type IIB (HSPB1)
• Neuronopathy, distal hereditary motor, type IIC (HSPB3)
• Neuronopathy, distal hereditary motor, type IID (FBXO38)
• Neuronopathy, distal hereditary motor, type IX (WARS)
• Neuronopathy, distal hereditary motor, type VA (GARS1)
• Neuronopathy, distal hereditary motor, type VB (REEP1)
• Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
• Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
• Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
• Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Neuropathy, distal hereditary motor, type VA (BSCL2)
• Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Neuropathy, hereditary motor + sensory, type VIB (SIGMAR1)
• Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
• Neuropathy, inflammatory demyelinating (PMP22)
• Neuropathy, recurrent, with pressure palsies (PMP22)
• Peripheral neuropathy, AR, with/-out impaired intellectual development (MCM3AP)
• Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
• Roussy-Levy syndrome (MPZ, PMP22)
• Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
• Spastic ataxia, Charlevoix-Saguenay type (SACS)
• Spastic paraplegia 10, AD (KIF5A)
• Spastic paraplegia 11, AR (SPG11)
• Spastic paraplegia 31, AD (REEP1)
• Spastic paraplegia 55, AR (MTRFR syn. C12orf65)
• Spastic paraplegia 57, AR (TFG)
• Spinal muscular atrophy, Jokela type (CHCHD10)
• Spinal muscular atrophy, distal, AR, 2 (SLC25A46)
• Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
• Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
• Spinal muscular atrophy, distal, XL 3 (ATP7A)
• Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
• Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
• Spinocerebellar ataxia 43 (MME)
• Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
• Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)