Klinische FragestellungMyopathie, distal; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Myopathie, distal, mit 12 Leitlinien-kuratierten "core candidate"-Genen" bzw. zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP1010
Anzahl Gene
25
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
34,1 kb (Core-/Core-canditate-Gene)
52,4 kb (Erweitertes Panel: inkl. additional genes)
52,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
{Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ANO5 | 2742 | NM_213599.3 | AR | |
DYSF | 6243 | NM_003494.4 | AR | |
FLNC | 8178 | NM_001458.5 | AD | |
GNE | 2262 | NM_001128227.3 | AR | |
KLHL9 | 1854 | NM_018847.4 | AD | |
LDB3 | 852 | NM_001080116.1 | AD | |
MATR3 | 2544 | NM_199189.3 | AD | |
MYH7 | 5808 | NM_000257.4 | AD | |
TIA1 | 1161 | NM_022173.4 | AD, AR | |
VCP | 2421 | NM_007126.5 | AD | |
ACTA1 | 1134 | NM_001100.4 | AD, AR | |
ADSS1 | 1374 | NM_152328.5 | AR | |
AMPD1 | 2343 | NM_000036.3 | AR | |
BAG3 | 1728 | NM_004281.4 | AD | |
CAV3 | 456 | NM_033337.3 | AD, AR | |
CRYAB | 528 | NM_001885.3 | AD, AR | |
DES | 1413 | NM_001927.4 | AD, AR | |
DNAJB2 | 834 | NM_001039550.2 | AR | |
DNAJB6 | 981 | NM_058246.4 | AD | |
DNM2 | 2613 | NM_001005360.3 | AD | |
FHL1 | 843 | NM_001449.5 | XL | |
HSPB1 | 618 | NM_001540.5 | AD | |
HSPB8 | 591 | NM_014365.3 | AD | |
MYOT | 1497 | NM_006790.3 | AD | |
SQSTM1 | 1323 | NM_003900.5 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Muskelerkrankungen, mit klinischem Muster einer vorherrschenden Schwäche + beginnender Atrophie in den Füßen und/oder Händen
Synonyme
- Alias: Distal muscular dystrophy
- Alias: Distal myopathy
- Allelic: Amyotrophic lateral sclerosis 14, with/-out frontotemporal dementia (VCP)
- Allelic: Androgen insensitivity (AR)
- Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
- Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
- Allelic: Cardiomyopathy, dilated, 1S (MYH7)
- Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
- Allelic: Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
- Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
- Allelic: Hypospadias 1, XL (AR)
- Allelic: King-Denborough syndrome (RYR1)
- Allelic: Left ventricular noncompaction 5 (MYH7)
- Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
- Allelic: Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
- Amyotrophic lateral sclerosis 21 (MATR3)
- Bethlem myopathy 2 (COL12A1)
- CAP myopathy 1 (TPM3)
- CAP myopathy 2 (TPM2)
- Central core disease (RYR1)
- Centronuclear myopathy 1 (DNM2)
- Deafness, XL 4 (SMPX)
- Facioscapulohumeral muscular dystrophy 3, digenic (LRIF1)
- Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
- Laing distal myopathy (MYH7)
- Minicore myopathy with external ophthalmoplegia (RYR1)
- Miyoshi muscular dystrophy 1 (DYSF)
- Miyoshi muscular dystrophy 3 (ANO5)
- Muscular dystrophy, AR, with rigid spine + distal joint contractures (TOR1AIP1)
- Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
- Muscular dystrophy, limb-girdle, AR (TTN)
- Muscular dystrophy, limb-girdle, AR 2 (DYSF)
- Muscular dystrophy, limb-girdle, AR 7 (TCAP)
- Myopathy, XL, with postural muscle atrophy (FHL1)
- Myopathy, actin, congenital, with cores (ACTA1)
- Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
- Myopathy, congenital, with fiber-type disproportion (TPM3)
- Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
- Myopathy, distal, 4 (FLNC)
- Myopathy, distal, 5 (ADSS1 syn. ADSSL1)
- Myopathy, distal, 6, adult onset (ACTN2)
- Myopathy, distal, 7, adult-onset, XL (SMPX)
- 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, 5 (FLNC)
- Myopathy, myofibrillar, 6 (BAG3)
- Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
- Myopathy, myosin storage, AD or AR (MYH7)
- Myopathy, scapulohumeroperoneal (ACTA1)
- Myopathy, spheroid body (MYOT)
- Nemaline myopathy 1, AD or AR (TPM3)
- Nemaline myopathy 10 (LMOD3)
- Nemaline myopathy 11, AR (MYPN)
- Nemaline myopathy 2, AR (NEB)
- Nemaline myopathy 3, AD or AR (ACTA1)
- Nemaline myopathy 4, AD (TPM2)
- Nemaline myopathy 5, Amish type (TNNT1)
- Nemaline myopathy 6, AD (KBTBD13)
- Nemaline myopathy 7, AR (CFL2)
- Nemaline myopathy 8, AR (KLHL40)
- Nemaline myopathy 9 (KLHL41)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Neuronopathy, distal hereditary motor, type IIA (HSPB8)
- Neuronopathy, distal hereditary motor, type IIB (HSPB1)
- Nonaka myopathy (GNE)
- Peripheral neuropathy, myopathy, hoarseness, and hearing loss (MYH14)
- Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
- Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
- Rippling muscle disease 2 (CAV3)
- Salih myopathy (TTN)
- Scapuloperoneal myopathy, XLD (FHL1)
- Scapuloperoneal syndrome, myopathic type (MYH7)
- Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
- Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
- Tibial muscular dystrophy, tardive (TTN)
- Ullrich congenital muscular dystrophy 2 (COL12A1)
- Welander distal myopathy (TIA1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G72.-
Bioinformatik und klinische Interpretation
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