©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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

Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, hereditary with liability for pressure pulsies - HNPP comprising a guideline-curated core gene 7 core candidate genes and altogether >100 curated genes according to the clinical signs

ID
NP1321
Number of genes
47 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
107,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
PMP22483NM_000304.4AD
SORD1074NM_003104.6AR
ABCD12238NM_000033.4XLR
ABHD121197NM_001042472.3AR
ARSA1530NM_000487.6AR
ATP7A4503NM_000052.7XLR
BSCL21197NM_032667.6AD
CAV3456NM_033337.3AD
CNTNAP14155NM_003632.3AR
CRYAB528NM_001885.3n.k.
DCTN13837NM_004082.5AD
DES1413NM_001927.4AD, AR
DGAT21207NM_001253891.2AD
DNAJB2834NM_001039550.2AR
DNAJB6981NM_058246.4AD
DYSF6243NM_003494.4AR
FLNC8178NM_001458.5AD
FXN633NM_000144.5
GARS12220NM_002047.4AD
GNE2262NM_001128227.3AR
HSPB1618NM_001540.5AD
HSPB8591NM_014365.3AD
IGHMBP22982NM_002180.3AR
KIF5A3099NM_004984.4AD
LDB3852NM_001080116.1AD
LMNA1995NM_170707.4AR
MARS12703NM_004990.3AD
MATR32544NM_199189.3AD
MCM3AP5943NM_003906.5AR
MYH75808NM_000257.4n.k.
MYOT1497NM_006790.3AD
NEFH3063NM_021076.4AD
PEX7972NM_000288.4AR
PHYH1017NM_006214.4AR
PLEKHG53189NM_020631.6AR
PLP1834NM_000533.5XLR
SBF15682NM_002972.4AR
SCN9A5934NM_002977.3AD, AR
SEPTIN92223NM_006640.5AD
SPART2001NM_015087.5AR
SPTLC11422NM_006415.4AD
TCAP504NM_003673.4n.k.
TIA11161NM_022173.4AD, AR
TRPV42616NM_021625.5AD
TTR444NM_000371.4AD
TYMP1449NM_001953.5AR
WARS11451AD

Informations about the disease

Clinical Comment

Klin

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined