ErkrankungMuskeldystrophie, kongenitale; erweiterte Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Muskeldystrophie, kongenitale, erweitert, mit 18 Leitlinien-kuratierten und insgesamt 72 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP9928
Anzahl Gene
43
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
47,5 kb (Core-/Basis-Gene)
109,2 kb (Erweitertes Panel)
109,2 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 |
---|---|---|---|
B3GALNT2 | 1503 | AR | |
B4GAT1 | 1248 | AR | |
COL6A1 | 3087 | AD und/oder AR | |
COL6A2 | 3060 | AD und/oder AR | |
COL6A3 | 9534 | AD und/oder AR | |
CRPPA | 1356 | AR | |
DAG1 | 2688 | AR | |
FKRP | 1488 | AR | |
FKTN | 1386 | AR | |
GMPPB | 1164 | AR | |
LAMA2 | 9369 | AR | |
LARGE1 | 2271 | AR | |
POMGNT1 | 1983 | AR | |
POMK | 1053 | AR | |
POMT1 | 2244 | AR | |
POMT2 | 2253 | AR | |
SELENON | 1773 | AD und/oder AR | |
ACTA1 | 1134 | AD und/oder AR | |
BIN1 | 1782 | AR | |
CCDC78 | 1317 | AD | |
CFL2 | 501 | AR | |
CHAT | 2247 | AR | |
CHRNE | 1482 | AD und/oder AR | |
COLQ | 1368 | AR | |
DNM2 | 2613 | AD und/oder AR und/oder SMu | |
DOK7 | 1515 | AR | |
GFPT1 | 2046 | AR | |
KBTBD13 | 1377 | AD | |
KLHL40 | 1866 | AR | |
KLHL41 | 1821 | AR | |
LMOD3 | 1683 | AR | |
MAP3K20 | 2804 | AR | |
MTM1 | 1812 | XLR | |
MTMR14 | 1617 | AD | |
POMGNT2 | 1743 | AR | |
RAPSN | 1239 | AR | |
RXYLT1 | 1355 | AR | |
RYR1 | 15117 | AD und/oder AR | |
SMN1 | 885 | AR | |
SPEG | 9804 | AR | |
TNNT1 | 837 | AR | |
TPM2 | 855 | AD | |
TPM3 | 858 | AD und/oder AR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_MP9928
Synonyme
- Alias: Congenital muscular dystrophy due to laminin alpha2 deficiency (LAMA2)
- Alias: Congenital muscular dystrophy type 1A (LAMA2)
- Alias: Laminin subunit alpha 2-related congenital muscular dystrophy (LAMA2)
- Alias: Merosin-negative congenital muscular dystrophy (LAMA2)
- Alias: Muskeldystrophie, kongenitale, Merosin-negativ (LAMA2)
- Alias: Muskeldystrophie, kongenitale, durch Laminin-alpha 2-Mangel (LAMA2)
- Alias: Santavuori congenital muscular dystrophy (POMGNT1)
- Alias: Walker-Warburg syndrome (POMT1)
- Allelic: Becker muscular dystrophy (DMD)
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Cardiomyopathy, dilated, 1X (FKTN)
- Allelic: Cardiomyopathy, dilated, 3B (DMD)
- Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
- Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Dystonia 27 (COL6A3)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
- Allelic: Epidermolysis bullosa simplex 5A, Ogna type (PLEC)
- Allelic: Epidermolysis bullosa simplex 5C, with pyloric atresia (PLEC)
- Allelic: Epidermolysis bullosa simplex 5D, generalized intermediate, AR (PLEC)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: King-Denborough syndrome (RYR1)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
- Allelic: Malouf syndrome (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
- Allelic: Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
- Allelic: Muscular dystrophy, rigid spine, 1 (SELENON)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 9 (DAG1)
- Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
- Allelic: Myosclerosis, congenital (COL6A2)
- Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Scapuloperoneal myopathy, XLD (FHL1)
- Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
- Allelic: Split-foot malformation with mesoaxial polydactyly (MAP3K20)
- Allelic:Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
- Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
- Arthrogryposis multiplex congenita 6 (NEB)
- Arthrogryposis, distal, type 1A + 2B4 (TPM2)
- Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
- Bethlem myopathy 2 (COL12A1)
- CAP myopathy 1 (TPM3)
- CAP myopathy 2 (TPM2)
- Carey-Fineman-Ziter syndrome [cong. myopathy +Moebius- + Robin sequences] (MYMK)
- Central core disease (RYR1)
- Centronuclear myopathy 1 (DNM2)
- Centronuclear myopathy 2 (BIN1)
- Centronuclear myopathy 4 (CCDC78)
- Centronuclear myopathy 5 (SPEG)
- Centronuclear myopathy 6 with fiber-type disproportion (MAP3K20)
- Centronuclear myopathy, autosomal, modifier of (MTMR14)
- Congenital disorder of glycosylation, type Im (DOLK)
- Congenital disorder of glycosylation, type Iu (DPM2)
- Duchenne muscular dystrophy (DMD)
- Epidermolysis bullosa simplex 5B, with muscular dystrophy (PLEC)
- Fetal akinesia deformation sequence 2 (RAPSN)
- Fetal akinesia deformation sequence 3 (DOK7)
- Lethal congenital contracture syndrome 5 (DNM2)
- Marinesco-Sjogren syndrome [cong. cataracts, myopathy, hypotonia, ID, hyperg. hypogonadism] (SIL1)
- Muscular dystrophy, congenital (LMNA)
- Muscular dystrophy, congenital, due to ITGA7 deficiency (ITGA7)
- Muscular dystrophy, congenital, megaconial type (CHKB)
- Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
- Muscular dystrophy, congenital, with cataracts + intellectual disability (INPP5K)
- Muscular dystrophy, limb-girdle, AR 17 (PLEC)
- Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
- Muscular dystrophy, rigid spine, 1 (SELENON)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies, type A, 10 (RXYLT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 9 (DAG1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy [cong. with/-out mental retard.], type B, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy [cong. without mental retard.], type B, 4 (FKTN)
- Myasthenia, congenital, 12, with tubular aggregates (GFPT1)
- Myasthenic syndrome, congenital, 10 ((DOK7)
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSN)
- Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
- Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
- Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
- Myasthenic syndrome, congenital, 5 (COLQ)
- Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
- Myopathy with extrapyramidal signs (MICU1)
- 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 (SELENON)
- Myopathy, congenital, with fiber-type disproportion (TPM3)
- Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
- Myopathy, mitochondrial, + ataxia (MSTO1)
- Myotonic dystrophy 1 (DMPK_CTG)
- Myotubular myopathy, XL (MTM1)
- Nemaline myopathy 1, AD/AR (TPM3)
- Nemaline myopathy 10 (LMOD3)
- Nemaline myopathy 2, AR (NEB)
- Nemaline myopathy 3, AD/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)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
- Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
- Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
- Ullrich congenital muscular dystrophy 2 (COL12A1)
- Uruguay faciocardiomusculoskeletal syndrome (FHL1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G71.2
Bioinformatik und klinische Interpretation
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