ErkrankungNeuropathie, hereditäre mit Neigung zu Drucklähmungen - HNPP; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre mit Neigung zu Drucklähmungen - HNPP, mit einem Leitlinien-kuratierten und zusammen genommen 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose (weitere CMT-Gene ggf. in DD berücksichtigen)
ID
NP1321
Anzahl Gene
26
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,5 kb (Core-/Basis-Gene)
53,4 kb (Erweitertes Panel)
53,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
X
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
PMP22 | 483 | AD und/oder AR | |
ABCD1 | 2238 | XLR | |
ABHD12 | 1197 | AR | |
ARSA | 1530 | AR | |
CAV3 | 456 | AD und/oder Ass | |
CRYAB | 528 | AD | |
DES | 1413 | AD und/oder AR | |
DNAJB6 | 981 | AD | |
DYSF | 6243 | AR | |
FLNC | 8178 | AD | |
FXN | 633 | AR und/oder Ass | |
GNE | 2262 | AD und/oder AR | |
LDB3 | 852 | AD | |
MATR3 | 2544 | AD | |
MYH7 | 5808 | AD und/oder AR und/oder Dig | |
MYOT | 1497 | AD | |
PEX7 | 972 | AR | |
PHYH | 1017 | AR | |
PLP1 | 834 | XLR | |
SCN9A | 5934 | AD und/oder AR | |
SEPTIN9 | 2223 | AD | |
SPART | 2001 | AR | |
TCAP | 504 | AD und/oder AR | |
TIA1 | 1161 | AD und/oder AR | |
TTR | 444 | AD | |
TYMP | 1449 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Klin
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder Ass
- AR
- AR und/oder Ass
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G60.-
Bioinformatik und klinische Interpretation
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