ErkrankungNeuropathie, CMT1/-4 / HMSNI/-IV, demyelinisierend, AD/AR; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre motorisch-sensorische, demyelinisierend (CMT1/-4), mit 16 Leitlinien-kuratierten und zusammen genommen 17 Genen gemäß klinischer Verdachtsdiagnose
ID
NP6734
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
37,2 kb (Core-/Basis-Gene)
37,6 kb (Erweitertes Panel)
37,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
EGR2 | 1431 | AD und/oder AR | |
FGD4 | 2301 | AR | |
FIG4 | 2724 | AD und/oder AR | |
GDAP1 | 1077 | AD und/oder AR und/oder Dig | |
HK1 | 2754 | AD und/oder AR | |
LITAF | 486 | AD | |
MPZ | 747 | AD und/oder AR | |
MTMR2 | 1932 | AR | |
NDRG1 | 1185 | AR | |
NEFL | 1633 | AD und/oder AR | |
PMP22 | 483 | AD und/oder AR | |
PRX | 4386 | AD und/oder AR | |
SBF1 | 5682 | AR | |
SBF2 | 5550 | AR | |
SH3TC2 | 3867 | AD und/oder AR | |
SURF1 | 903 | AR | |
PMP2 | 403 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen
Synonyme
- Alias: CMT1/-4
- Alias: HMSNI/-IV
- Alias: Polyneuropathie
- Alias: Polyneuropathy
- Allelic: Amyotrophic lateral sclerosis 11 (FIG4)
- Allelic: Centronuclear myopathy 1 (DNM2)
- Allelic: Charcot-Marie-Tooth disease, type 2E (NEFL)
- Allelic: Charcot-Marie-Tooth disease, type 2I (MPZ)
- Allelic: Charcot-Marie-Tooth disease, type 2J (MPZ)
- Allelic: Cutis laxa, AD 2 (FBLN5)
- Allelic: Cutis laxa, AR, type IA (FBLN5)
- Allelic: Deafness, AR 89 (KARS1)
- Allelic: Glomerulosclerosis, focal segmental, 5 (INF2)
- Allelic: Lethal congenital contracture syndrome 5 (DNM2)
- Allelic: Lethal congenital contracture syndrome 7 (CNTNAP1)
- Allelic: Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
- Allelic: Macular degeneration, age-related, 3 (FBLN5)
- Allelic: Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
- Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
- Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
- Allelic: Retinitis pigmentosa 79 (HK1)
- Allelic: Roussy-Levy syndrome (MPZ)
- Allelic: Roussy-Levy syndrome (PMP22)
- Allelic: Spinal muscular atrophy, distal, autosomal recessive, 4 (PLEKHG5)
- Allelic: Yunis-Varon syndrome (FIG4)
- Charcot-Marie-Tooth disease, DI, B (DNM2)
- Charcot-Marie-Tooth disease, DI, C (YARS1)
- Charcot-Marie-Tooth disease, DI, D (MPZ)
- Charcot-Marie-Tooth disease, DI, E (INF2)
- Charcot-Marie-Tooth disease, DI, F (GNB4)
- Charcot-Marie-Tooth disease, DI, G (NEFL)
- Charcot-Marie-Tooth disease, RI, B (KARS1)
- Charcot-Marie-Tooth disease, RI, C (PLEKHG5)
- Charcot-Marie-Tooth disease, RI, D (COX6A1)
- Charcot-Marie-Tooth disease, XLI [OMIM: CMTX1] (DRP2)
- Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
- Charcot-Marie-Tooth disease, demyelinating, type 1G (PMP2)
- Charcot-Marie-Tooth disease, demyelinating, type 1H (FBLN5)
- 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 4A (GDAP1)
- Charcot-Marie-Tooth disease, type 4B1 (MTMR1)
- Charcot-Marie-Tooth disease, type 4B2 (SBF2)
- Charcot-Marie-Tooth disease, type 4B3 (SBF1)
- Charcot-Marie-Tooth disease, type 4C (SBF2)
- Charcot-Marie-Tooth disease, type 4D ["Gypsy"] (NDRG1)
- Charcot-Marie-Tooth disease, type 4E (EGR2, MPZ)
- 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)
- Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
- Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
- Dejerine-Sottas disease (EGR2, MPZ, PMP22, PRX)
- Hemolytic anemia due to hexokinase deficiency (HK1)
- Hypomyelinating neuropathy, congenital, 1 (EGR2)
- Hypomyelinating neuropathy, congenital, 2 (MPZ)
- Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
- Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS1)
- Mononeuropathy of the median nerve, mild (SBF2)
- Neuropathy, hereditary motor + sensory, Russe type (HK1)
- Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
- Neuropathy, inflammatory demyelinating (PMP22)
- Neuropathy, recurrent, with pressure palsies (PMP22)
- Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G60.0
Bioinformatik und klinische Interpretation
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