Klinische FragestellungNeuropathie, hereditäre mit Neigung zu Drucklähmungen - HNPP; Differentialdiagnose

NGS +

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Klin

• Neuropathy, recurrent, with pressure palsies (PMP22)
• Alias: Axonal + demyelinating neuropathies
• Alias: CMT1, CMT2, CMT3, CMTX; HMSNI, HMSNII, HMSNIII ...
• Alias: Polyneuropathie
• Allelic: Alpha-aminoadipic + alpha-ketoadipic aciduria (DHTKD1)
• Allelic: Amyotrophic lateral sclerosis 11 (FIG4)
• Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
• Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
• Allelic: Amyotrophic lateral sclerosis 5, juvenile (SPG11)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to (NEFH)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
• Allelic: Arts syndrome (PRPS1)
• Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
• Allelic: Avascular necrosis of femoral head, primary, 2 (TRPV4)
• Allelic: Brachyolmia type 3 (TRPV4)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1HH (BAG3)
• Allelic: Cardiomyopathy, dilated, 1I (DES)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
• Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
• Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
• Allelic: Cataract 16, multiple types (CRYAB)
• Allelic: Centronuclear myopathy 1 (DNM2)
• Allelic: Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
• Allelic: Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Allelic: Creatine phosphokinase, elevated serum (CAV3)
• Allelic: Cutis laxa, AD 2 (FBLN5)
• Allelic: Cutis laxa, AR, type IA (FBLN5)
• Allelic: Deafness, AR 89 (KARS1)
• Allelic: Deafness, XL 1 (PRPS1)
• Allelic: Deafness, XL 5 (AIFM1)
• Allelic: Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
• Allelic: Developmental + epileptic encephalopathy 29 (AARS1)
• Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
• Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Encephalopathy, progressive, +/- 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: Gnathodiaphyseal dysplasia (ABHD12)
• Allelic: Gout, PRPS-related (PRPS1)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
• Allelic: Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Allelic: Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS1)
• Allelic: Interstitial lung + liver disease (MARS1)
• Allelic: Left ventricular noncompaction 3 (LDB3)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Lethal congenital contracture syndrome 5 (DNM2)
• Allelic: Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
• Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Long QT syndrome 9 (CAV3)
• Allelic: Macular degeneration, age-related, 3 (FBLN5)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Medulloblastoma (ELP1)
• Allelic: Menkes disease (ATP7A)
• Allelic: Mental retardation, AD 13 (DYNC1H1)
• Allelic: Metatropic dysplasia (TRPV4)
• Allelic: Microcephaly, seizures, developmental delay (PNKP)
• Allelic: Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
• Allelic: Mononeuropathy of the median nerve, mild (SH3TC2)
• Allelic: Mucopolysaccharidosis type IIIB [Sanfilippo B] (NAGLU)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, AR 12 (ANO5)
• Allelic: Myoclonus, intractable, neonatal (KIF5A)
• Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
• Allelic: Myopathy, myofibrillar, 6 (BAG3)
• Allelic: Myopia 6 (SCO2)
• Allelic: NESCAV syndrome (KIF1A)
• Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
• Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Allelic: Occipital horn syndrome (ATP7A)
• Allelic: Parastremmatic dwarfism (TRPV4)
• Allelic: Perry syndrome (DCTN1)
• Allelic: Pheochromocytoma (KIF1B)
• Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
• Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Retinitis pigmentosa 79 (HK1)
• Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Allelic: Roussy-Levy syndrome (MPZ, PMP22)
• Allelic: Scapuloperoneal spinal muscular atrophy (TRPV4)
• Allelic: Sialuria (GNE)
• Allelic: Silver spastic paraplegia syndrome (BSCL2)
• Allelic: Sodium serum level QTL 1 (TRPV4)
• Allelic: Spastic paraplegia 10, AD (KIF5A)
• Allelic: Spastic paraplegia 11, AR (SPG11)
• Allelic: Spastic paraplegia 30, AD (KIF1A)
• Allelic: Spastic paraplegia 57, AR (TFG)
• Allelic: Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
• Allelic: Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
• Allelic: Spinal muscular atrophy, infantile, James type (GARS1)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Allelic: Spinocerebellar ataxia 43 (MME)
• Allelic: Spondyloepimetaphyseal dysplasia, Maroteaux type (TRPV4)
• Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
• Allelic: Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
• Allelic: Usher syndrome type 3B (HARS1)
• Allelic: Yunis-Varon syndrome (FIG4)
• Adrenoleukodystrophy (ABCD1)
• Adrenomyeloneuropathy, adult (ABCD1)
• Allelic: Epidermolysis bullosa simplex 3, localized/generalized intermediate, bp230 deficiency (DST)
• Allelic: Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
• Amyloidosis, hereditary, transthyretin-related (TTR)
• Amyotrophic lateral sclerosis 21 (MATR3)
• Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
• Amyotrophy, hereditary neuralgic (SEPTIN9)
• Basel-Vanagait-Smirin-Yosef syndrome (MED25)
• Carpal tunnel syndrome, familial (TTR)
• 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 2R (TRIM2)
• Charcot-Marie-Tooth disease, axonal type 2S (IGHMBP2)
• Charcot-Marie-Tooth disease, axonal type 2T (MME)
• Charcot-Marie-Tooth disease, axonal type 2U (MARS)
• 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, axonal, type 2FF (CADM3)
• Charcot-Marie-Tooth disease, demyelinating type 1G (PMP2)
• Charcot-Marie-Tooth disease, demyelinating, type 1H (FBLN5)
• Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
• Charcot-Marie-Tooth disease, dominant intermediate C (YARS1)
• Charcot-Marie-Tooth disease, dominant intermediate D (MPZ)
• Charcot-Marie-Tooth disease, dominant intermediate E (INF2)
• Charcot-Marie-Tooth disease, dominant intermediate F (GNB4)
• Charcot-Marie-Tooth disease, dominant intermediate G (NEFL)
• Charcot-Marie-Tooth disease, recessive intermediate A (GDAP1)
• Charcot-Marie-Tooth disease, recessive intermediate B (KARS1)
• Charcot-Marie-Tooth disease, recessive intermediate C (PLEKHG5)
• Charcot-Marie-Tooth disease, recessive intermediate D (COX6A1)
• 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 2B (RAB7A)
• 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 4D (NDRG1)
• 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)
• Combined oxidative phosphorylation deficiency 6 (AIFM1)
• Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
• Cowchock syndrome (AIFM1)
• Dejerine-Sottas disease (EGR2, MPZ, PMP22, PRX)
• Dejerine-Sottas disease (PMP22)
• Dent disease 2 (OCRL)
• Developmental delay, impaired growth, dysmorphic facies + axonal neuropathy (MORC2)
• Dysautonomia, familial (ELP1)
• Erythermalgia, primary (SCN9A)
• Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Friedreich ataxia (FXN)
• Friedreich ataxia with retained reflexes (FXN)
• Giant axonal neuropathy-1, AR (GAN)
• Giant axonal neuropathy-2, AD (DCAF8)
• Hereditary Neuropathies [panelapp] (KIF5A)
• Hereditary motor + sensory neuropathy VIA (MFN2)
• Hereditary motor + sensory neuropathy, Okinawa type (TFG)
• Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Hypomyelinating neuropathy, congenital, 1 (EGR2)
• Hypomyelinating neuropathy, congenital, 2 (MPZ)
• Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
• Infantile-onset multisystem neurologic, endocrine + pancreatic disease (PTRH2)
• Insensitivity to pain, congenital (SCN9A)
• Laing distal myopathy (MYH7)
• Lethal congenital contracture syndrome 7 (CNTNAP1)
• Lowe syndrome (OCRL)
• Metachromatic leukodystrophy (ARSA)
• Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
• Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
• Miyoshi muscular dystrophy 1 (DYSF)
• Miyoshi muscular dystrophy 3 (ANO5)
• Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
• Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Muscular dystrophy, limb-girdle, AR 2 (DYSF)
• Muscular dystrophy, limb-girdle, AR 7 (TCAP)
• Myopathy, distal, 4 (FLNC)
• Myopathy, distal, Tateyama type (CAV3)
• Myopathy, distal, with anterior tibial onset (DYSF)
• Myopathy, myofibrillar, 1 (DES)
• Myopathy, myofibrillar, 2 (CRYAB)
• Myopathy, myofibrillar, 3 (MYOT)
• Myopathy, myofibrillar, 4 (LDB3)
• Myopathy, myofibrillar, 5 (FLNC)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Myopathy, myosin storage, AD + AR (MYH7)
• Myopathy, spheroid body (MYOT)
• Nemaline myopathy 2, AR (NEB)
• Nephrotic syndrome, type 14 (SGPL1)
• Neurodevelopmental disorder with microcephaly, ataxia, seizures (SARS1)
• Neuromyotonia and 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 IX (WARS1)
• Neuronopathy, distal hereditary motor, type VA (GARS1)
• Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
• Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
• Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Neuropathy, axonal [GeneReviews] (DGAT2)
• Neuropathy, distal hereditary motor, type VC (BSCL2)
• Neuropathy, hereditary motor + myopathic features (VWA1)
• Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
• Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
• Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
• Neuropathy, hereditary sensory + autonomic, type V (NGF)
• Neuropathy, hereditary sensory + autonomic, type VI (DST)
• Neuropathy, hereditary sensory + autonomic, type VIII (PRDM12)
• Neuropathy, hereditary sensory, type IE (DNMT1)
• Neuropathy, hereditary sensory, type IIC (KIF1A)
• Neuropathy, hereditary, +/- age-related macular degeneration (FBLN5)
• Neuropathy, inflammatory demyelinating (PMP22)
• Neuropathy, intermediate [GeneReviews] (DRP2)
• Neuropathy, recurrent, with pressure palsies (PMP22)
• Nonaka myopathy (GNE)
• Paroxysmal extreme pain disorder (SCN9A)
• Pelizaeus-Merzbacher disease (PLP1)
• Peripheral neuropathy, AR, +/- impaired intellectual development (MCM3AP)
• Peroxisome biogenesis disorder 9B (PEX7)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, + cataract (ABHD12)
• Pontocerebellar hypoplasia, type 1E (SLC25A46)
• Refsum disease (PHYH)
• Rippling muscle disease 2 (CAV3)
• Roussy-Levy syndrome (PMP22)
• Salih myopathy (TTN)
• Scapuloperoneal syndrome, myopathic type (MYH7)
• Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Slowed nerve conduction velocity, AD (ARHGEF10)
• Small fiber neuropathy (SCN9A)
• Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
• Spastic paraplegia 2, XL (PLP1)
• Spinal muscular atrophy, Jokela type (CHCHD10)
• Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
• Spinal muscular atrophy, distal, XL (ATP7A)
• Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
• Spinocerebellar ataxia, AR, with axonal neuropathy 3 (COA7)
• Tibial muscular dystrophy, tardive (TTN)
• Troyer syndrome (SPART)
• Vocal cord paresis [GeneReviews: as the first manifestation of CMT] (DCTN2)
• Welander distal myopathy (TIA1)