ErkrankungNeuronopathie/Muskelatrophie, distale hereditäre; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neuronopathie/ Muskelatrophie, distale hereditäre, mit 15 bzw. zusammen genommen 34 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP0450
Anzahl Gene
34
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
23,2 kb (Core-/Basis-Gene)
88,4 kb (Erweitertes Panel)
88,4 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 |
---|---|---|---|
BICD2 | 2568 | AD | |
BSCL2 | 1197 | AD und/oder AR | |
CHCHD10 | 429 | AD | |
DCTN1 | 3837 | AD und/oder AR und/oder Sus | |
DNAJB2 | 834 | AR | |
GARS1 | 2220 | AD | |
HSPB1 | 618 | AD | |
HSPB3 | 453 | AD | |
HSPB8 | 591 | AD | |
IGHMBP2 | 2982 | AR | |
REEP1 | 606 | AD | |
SLC5A7 | 1743 | AD und/oder AR | |
UBA1 | 3177 | XLR | |
VAPB | 732 | AD | |
VRK1 | 1191 | AR | |
AARS1 | 2927 | AD und/oder AR | |
AR | 2763 | XLR und/oder SMu | |
ARHGEF10 | 4035 | AD | |
ASAH1 | 1188 | AR | |
ATP7A | 4503 | XLR | |
DHTKD1 | 2760 | AD | |
DYNC1H1 | 13941 | AD | |
EXOSC3 | 828 | AR | |
FBXO38 | 2832 | AD | |
MFN2 | 2274 | AD und/oder AR und/oder Dig und/oder Sus | |
PLEKHG5 | 3189 | AR | |
SETX | 8034 | AD und/oder AR | |
SIGMAR1 | 672 | AR | |
SLC52A3 | 1410 | AR | |
SMN1 | 885 | AR | |
SPG11 | 7332 | AR | |
SYT2 | 1260 | AD | |
TRIP4 | 1759 | AR | |
TRPV4 | 2616 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Heterogene Störungen durch Dysfunktion der Motoneuronen der unteren Extremitäten mit längenabhängiger motorischer Schwäche + Atrophie, die zunächst die intrinsische Fußmuskulatur + das Peronealkompartiment der Beine betreffen und häufig zu Fußdeformitäten, Pes cavus, planus, Zehenkrallen führen
https://n.neurology.org/content/neurology/early/2017/03/01/WNL.0000000000003772.full.pdf
Synonyme
- Allelic: Amyotrophic lateral sclerosis 8 (VAPB)
- Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
- Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
- Allelic: Farber Lipogranulomatosis (ASAH1)
- Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
- Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
- Allelic: Muscular dystrophy, congenital, Davignon-Chauveau type (TRIP4)
- Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
- Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
- Allelic: Primary lateral sclerosis, juvenile (ALS2)
- Allelic: VEXAS syndrome, somatic (UBA1)
- Amyotrophic lateral sclerosis 2, juvenile (ALS2)
- Amyotrophic lateral sclerosis 5, juvenile (SPG11)
- Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
- Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
- Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
- Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
- Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
- Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
- Charcot-Marie-Tooth disease, type 2D (GARS1)
- Distal hereditary motor neuropathy
- Distal spinal muscular atrophy
- Fazio-Londe disease (SLC52A3)
- Hereditary motor + sensory neuropathy VIA (MFN2)
- Hereditary motor + sensory neuropathy, type IIc (TRPV4)
- 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 IID (FBXO38)
- Neuronopathy, distal hereditary motor, type IX (WARS1)
- Neuronopathy, distal hereditary motor, type VA (GARS1)
- Neuronopathy, distal hereditary motor, type VB (REEP1)
- Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
- Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
- Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
- Neuronopathy, distal hereditary motor, type VIII (TRPV4)
- Neuropathy, distal hereditary motor, type VA (BSCL2)
- Perry syndrome (DCTN1)
- Pontocerebellar hypoplasia type 1A (VRK1)
- Pontocerebellar hypoplasia, type 1B (EXOSC3)
- Pontocerebellar hypoplasia, type 1C (EXOSC8)
- SMA, distale Form
- Silver spastic paraplegia syndrome (BSCL2)
- Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
- Spastic paralysis, infantile onset ascending (ALS2)
- Spastic paraplegia 11, AR (SPG11)
- Spastic paraplegia 31, AD (REEP1)
- Spinal + bulbar muscular atrophy of Kennedy (AR_CAG)
- Spinal muscular atrophy with congenital bone fractures 1 (TRIP4)
- Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
- Spinal muscular atrophy, Jokela type (CHCHD10)
- Spinal muscular atrophy, XL 2, infantile (UBA1)
- Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
- Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
- Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
- Spinal muscular atrophy, distal, XL 3 (ATP7A)
- Spinal muscular atrophy, late-onset, Finkel type (VAPB)
- Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
- Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
- Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
- Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder AR und/oder Sus
- AR
- XLR
- XLR und/oder SMu
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G12.8
Bioinformatik und klinische Interpretation
Kein Text hinterlegt