IllnessNeuropathy, hereditary with liability for pressure pulsies - HNPP; differential diagnosis

NGS +

Hereditary neuropathy with liability to pressure palsy affects peripheral nerves. These are unusually sensitive to pressure. The condition is characterized by recurrent episodes of numbness, tingling and paralysis in the region of the affected nerve (arm, hand, leg, foot). An event may last from minutes to months, and recovery is usually complete. Pain in the limbs, especially the hands, is common. Many affected individuals suffer from carpal tunnel syndrome. Symptoms of this hereditary neuropathy usually begin in adolescence or early adulthood, vary in severity, but do not affect life expectancy. Hereditary neuropathy with liability to pressure palsy is most commonly caused by the deletion of one copy of the PMP22 gene. This loss reduces the amount of PMP22 protein produced. Other mutations of the PMP22 gene that result in a decrease in PMP22 protein can also cause this disorder. The inheritance is autosomal dominant.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1392/

• 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)