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
26
Accredited laboratory test
Examined sequence length
0,5 kb (Core-/Core-canditate-Genes)
53,4 kb (Extended panel: incl. additional genes)
53,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
PMP22 | 483 | NM_000304.4 | AD | |
ABCD1 | 2238 | NM_000033.4 | XLR | |
ABHD12 | 1197 | NM_001042472.3 | AR | |
ARSA | 1530 | NM_000487.6 | AR | |
CAV3 | 456 | NM_033337.3 | AD | |
CRYAB | 528 | NM_001885.3 | AD | |
DES | 1413 | NM_001927.4 | AD, AR | |
DNAJB6 | 981 | NM_058246.4 | AD | |
DYSF | 6243 | NM_003494.4 | AR | |
FLNC | 8178 | NM_001458.5 | AD | |
FXN | 633 | NM_000144.5 | AR | |
GNE | 2262 | NM_001128227.3 | AR | |
LDB3 | 852 | NM_001080116.1 | AD | |
MATR3 | 2544 | NM_199189.3 | AD | |
MYH7 | 5808 | NM_000257.4 | n.k. | |
MYOT | 1497 | NM_006790.3 | AD | |
PEX7 | 972 | NM_000288.4 | AR | |
PHYH | 1017 | NM_006214.4 | AR | |
PLP1 | 834 | NM_000533.5 | XLR | |
SCN9A | 5934 | NM_002977.3 | AD, AR | |
SEPTIN9 | 2223 | NM_006640.5 | AD | |
SPART | 2001 | NM_015087.5 | AR | |
TCAP | 504 | NM_003673.4 | n.k. | |
TIA1 | 1161 | NM_022173.4 | AD, AR | |
TTR | 444 | NM_000371.4 | AD | |
TYMP | 1449 | NM_001953.5 | AR |
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
G60.-
Bioinformatics and clinical interpretation
No text defined