ErkrankungTibiale Muskeldystrophie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Tibiale Muskeldystrophie (Udd) mit 5 bzw. zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
TP5551
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,5 kb (Core-/Basis-Gene)
39,7 kb (Erweitertes Panel)
39,7 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 |
---|---|---|---|
ACTN2 | 2685 | AD | |
DYSF | 6243 | AR | |
FLNC | 8178 | AD | |
SQSTM1 | 1323 | AD und/oder AR | |
ANO5 | 2742 | AD und/oder AR | |
CRYAB | 528 | AD | |
DES | 1413 | AD und/oder AR | |
GNE | 2262 | AD und/oder AR | |
LDB3 | 852 | AD | |
MATR3 | 2544 | AD | |
MYH7 | 5808 | AD und/oder AR und/oder Dig | |
MYOT | 1497 | AD | |
TIA1 | 1161 | AD und/oder AR | |
VCP | 2421 | AD |
Infos zur Erkrankung
Synonyme
- Alias: Distal anoctaminopathy (ANO5)
- Alias: Tibial Muscular Dystrophy
- Alias: Udd Distal Myopathy
- Allelic: Bosma arhinia microphthalmia syndrome (SMCHD1)
- Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
- 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, 23, with/-out LVNC (ACTN2)
- Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
- Allelic: Cataract 16, multiple types (CRYAB)
- Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
- Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
- Allelic: Gnathodiaphyseal dysplasia (ANO5)
- Allelic: Left ventricular noncompaction 3 (LDB3)
- Allelic: Left ventricular noncompaction 5 (MYH7)
- Allelic: Long QT syndrome 9 (CAV3)
- Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Allelic: Muscular dystrophy, limb-girdle, AR 12 (ANO5)
- Allelic: Muscular dystrophy, limb-girdle, AR 2 (DYSF)
- Allelic: Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
- Allelic: Myopathy, myofibrillar, 5 (FLNC)
- Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Allelic: Myopathy, myosin storage, AR (MYH7)
- Allelic: Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
- Allelic: Paget disease of bone 3 (SQSTM1)
- Allelic: Rippling muscle disease 2 (CAV3)
- Allelic: Salih myopathy (TTN)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Allelic: Sialuria (GNE)
- Amyotrophic lateral sclerosis 21 (MATR3)
- Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
- Creatine phosphokinase, elevated serum (CAV3)
- Facioscapulohumeral muscular dystrophy 1 + 2 (DUX4 macrosatellite contractions)
- Fascioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
- Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
- Laing distal myopathy (MYH7)
- Miyoshi muscular dystrophy 1 (DYSF)
- Miyoshi muscular dystrophy 3 (ANO5)
- Myopathy, distal, 4 (FLNC)
- Myopathy, distal, 6, adult onset (ACTN2)
- Myopathy, distal, Tateyama type (CAV3)
- Myopathy, distal, with anterior tibial onset (DYSF)
- Myopathy, distal, with rimmed vacuoles (SQSTM1)
- Myopathy, myofibrillar, 1 (DES)
- Myopathy, myofibrillar, 2 (CRYAB)
- Myopathy, myofibrillar, 3 (MYOT)
- Myopathy, myofibrillar, 4 (LDB3)
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
- Myopathy, spheroid body (MYOT)
- Nemaline myopathy 2, AR (NEB)
- Nonaka myopathy (GNE)
- Tibial muscular dystrophy, tardive (TTN)
- Welander distal myopathy (TIA1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G71.0
Bioinformatik und klinische Interpretation
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