ErkrankungNeuropathie, hereditäre mit Neigung zu Drucklähmungen - HNPP; Differentialdiagnose

NGS +

X

Klin

• Neuropathy, recurrent, with pressure palsies (PMP22)
• Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• 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: Creatine phosphokinase, elevated serum (CAV3)
• Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
• Allelic: Gnathodiaphyseal dysplasia (ABHD12)
• Allelic: Left ventricular noncompaction 3 (LDB3)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Long QT syndrome 9 (CAV3)
• Allelic: Muscular dystrophy, limb-girdle, AR 12 (ANO5)
• Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Allelic: Sialuria (GNE)
• Adrenoleukodystrophy (ABCD1)
• Adrenomyeloneuropathy, adult (ABCD1)
• Amyloidosis, hereditary, transthyretin-related (TTR)
• Amyotrophic lateral sclerosis 21 (MATR3)
• Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
• Amyotrophy, hereditary neuralgic (SEPTIN9)
• Carpal tunnel syndrome, familial (TTR)
• Charcot-Marie-Tooth disease, type 1A (PMP22)
• Charcot-Marie-Tooth disease, type 1E (PMP22)
• Dejerine-Sottas disease (PMP22)
• Dent disease 2 (OCRL)
• Erythermalgia, primary (SCN9A)
• Friedreich ataxia (FXN)
• Friedreich ataxia with retained reflexes (FXN)
• Insensitivity to pain, congenital (SCN9A)
• Laing distal myopathy (MYH7)
• Lowe syndrome (OCRL)
• Metachromatic leukodystrophy (ARSA)
• Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
• 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)
• Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
• Neuropathy, inflammatory demyelinating (PMP22)
• Nonaka myopathy (GNE)
• Paroxysmal extreme pain disorder (SCN9A)
• Pelizaeus-Merzbacher disease (PLP1)
• Peroxisome biogenesis disorder 9B (PEX7)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
• 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)
• Small fiber neuropathy (SCN9A)
• Spastic paraplegia 2, XL (PLP1)
• Tibial muscular dystrophy, tardive (TTN)
• Troyer syndrome (SPART)
• Welander distal myopathy (TIA1)