ErkrankungArthrogrypose, neuromuskulär

NGS +

[Sanger]

Gruppe von Erkrankungen: neuromuskuläre Erkrankungen sind häufig Ursache für Arthrogrypose + die häufigste Ursache für schwere Arthrogrypose

• Alkuraya-Kucinskas syndrome (KIAA1109)
• Allelic: Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Allelic: Bethlem myopathy 2 (COL12A1)
• Allelic: CAP myopathy 1 (TPM3)
• Allelic: CAP myopathy 2 (TPM2)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Central core disease (RYR1)
• Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
• Allelic: Congenital disorder of glycosylation, type Id (ALG3)
• Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
• Allelic: Congenital myopathy (TPM2)
• Allelic: Dystonia 27 (COL6A3)
• Allelic: Dystonia-1, modifier of (TOR1A)
• Allelic: Dystonia-1, torsion (TOR1A)
• Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Immunodeficiency 10 (STIM1)
• Allelic: Immunodeficiency 9 (ORAI1)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Mental retardation, AD 13 (DYNC1H1)
• Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
• Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (GMPPB)
• Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (DAG1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
• Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
• Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Allelic: Myasthenic syndrome, cong., 10 (DOK7)
• Allelic: Myasthenic syndrome, cong., 11, ass. with acetylcholine receptor deficiency (RAPSN)
• Allelic: Myasthenic syndrome, cong., 13, with tubular aggregates (DPAGT1)
• Allelic: Myasthenic syndrome, cong., 16 (SCN4A)
• Allelic: Myasthenic syndrome, cong., 1A, slow-channel (CHRNA1)
• Allelic: Myasthenic syndrome, cong., 1B, fast-channel (CHRNA1)
• Allelic: Myasthenic syndrome, cong., 20, presynaptic (SLC5A7)
• Allelic: Myasthenic syndrome, cong., 25 (VAMP1)
• Allelic: Myasthenic syndrome, cong., 2C, ass. with acetylcholine receptor deficiency (CHRNB1)
• Allelic: Myasthenic syndrome, cong., 3A, slow-channel (CHRND)
• Allelic: Myasthenic syndrome, cong., 3B, fast-channel (CHRND)
• Allelic: Myasthenic syndrome, cong., 3C, ass. with acetylcholine receptor deficiency (CHRND)
• Allelic: Myasthenic syndrome, cong., 4A, slow-channel (CHRNE)
• Allelic: Myasthenic syndrome, cong., 4B, fast-channel (CHRNE)
• Allelic: Myasthenic syndrome, cong., 4C, ass. with acetylcholine receptor deficiency (CHRNE)
• Allelic: Myasthenic syndrome, cong., 5 (COLQ)
• Allelic: Myasthenic syndrome, cong., 6, presynaptic (CHAT)
• Allelic: Myasthenic syndrome, cong., 9, ass. with acetylcholine receptor deficiency (MUSK)
• Allelic: Myasthenic syndrome, congenital, 25 (VAMP1)
• Allelic: Myopathy, actin, congenital, with cores (ACTA1)
• Allelic: Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Allelic: Myopathy, congenital, Baily-Bloch (STAC3)
• Allelic: Myopathy, congenital, with fast-twitch (type II) fiber atrophy (MYL1)
• Allelic: Myopathy, congenital, with fiber-type disproportion (TPM3)
• Allelic: Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Allelic: Myopathy, congenital, with tremor (MYBPC1)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Myopathy, myosin storage, AD/AR (MYH7)
• Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
• Allelic: Myopathy, tubular aggregate, 1 (STIM1)
• Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
• Allelic: Myosclerosis, congenital (COL6A2)
• Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
• Allelic: Nemaline myopathy 1, AD/AR (TPM3)
• Allelic: Nemaline myopathy 10 (LMOD3)
• Allelic: Nemaline myopathy 2, AR (NEB)
• Allelic: Nemaline myopathy 3, AD/AR (ACTA1)
• Allelic: Nemaline myopathy 4, AD (TPM2)
• Allelic: Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
• Allelic: Paramyotonia congenita (SCN4A)
• Allelic: Proximal myopathy + ophthalmoplegia (MYH2)
• Allelic: Salih myopathy (TTN)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Spastic ataxia 1, AD (VAMP1)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Allelic: Stormorken syndrome (STIM1)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Allelic: Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
• Allelic: Ullrich congenital muscular dystrophy 2 (COL12A1)
• Arthrogryposis multiplex congenita (MYH3, TNNI2, TPM2)
• Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI1)
• Arthrogryposis multiplex congenita 5 (TOR1A)
• Arthrogryposis multiplex congenita 5 (TOR1A)
• Arthrogryposis multiplex congenita, distal, type 1 (TPM2)
• Arthrogryposis, distal, type 1A (TPM2)
• Arthrogryposis, distal, type 1B (MYBPC1)
• Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
• Arthrogryposis, distal, type 2B1 (TNNI2)
• Arthrogryposis, distal, type 2B2 (TNNT3)
• Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
• Arthrogryposis, distal, type 2B4 (TPM2)
• Arthrogryposis, distal, type 3 (PIEZO2)
• Arthrogryposis, distal, type 5 (PIEZO2)
• Arthrogryposis, distal, type 5D (ECEL1)
• Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
• Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
• Carey-Fineman-Ziter syndrome (MYMK)
• Carney complex variant (MYH8)
• Cold-induced sweating syndrome 1 (CRLF1)
• Congenital disorder of glycosylation, type Ij (DPAGT1)
• Congenital myasthenic syndrome (CHRNA1, CHRNB1, RAPSN, VAMP1)
• Congenital myopathy (MYL1)
• Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A + 1B (MYH3)
• Distal arthrogryposis multiplex congenita (TNNI2)
• Distal arthrogryposis multiplex congenita; Distal arthrogryposis type 1, 2B (TNNT3)
• Distal arthrogryposis type 1 (TNNT3)
• Dystonia-1, torsion (TOR1A)
• Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
• Escobar syndrome [multiple pterygium syndrome, nonlethal type] (CHRNG)
• Fetal akinesia deformation sequence 1 (MUSK)
• Fetal akinesia deformation sequence 2 (RAPSN)
• Fetal akinesia deformation sequence 3 (DOK7)
• Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Lethal congenital contracture syndrome 4 (MYBPC1)
• Marden-Walker syndrome (PIEZO2)
• Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
• Multiple pterygium syndrome, lethal type (CHRND, CHRNG)
• Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
• Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
• Muscular dystrophy, rigid spine, 1 (SELENON)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 10 (RXYLT1/TMEM5)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 12 (POMK)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 13 (B4GAT1)
• 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/ISPD)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
• Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retardation), type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy (cong. without mental retardation), type B, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA/ISPD)
• Myasthenia, limb-girdle, familial; Fetal akinesia deformation sequence (DOK7)
• Myasthenic syndrome, congenital, 3A-C (CHRND), 4A-C (CHRNE)
• Myasthenic syndrome, congenital, assoc. with acetylcholine receptor deficiency (RAPSN)
• Myasthenic syndrome, congenital, with tubular aggregates 2 (DPAGT1)
• Myopathy, congenital, Baily-Bloch (STAC3)
• Myopathy, congenital, with fiber-type disproportion (SELENON)
• Myopathy, congenital, with fiber-type disproportion (TMP3)
• Myopathy, tubular aggregate, 1 (ORAI1)
• Myopathy, tubular aggregate, Stormorken syndrome (STIM1)
• Myotubular myopathy, XL (MTM1)
• Nemaline myopathy 5, Amish type (TNNT1)
• Nemaline myopathy 8, AR (KLHL40)
• Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• PERCHING syndrome (KLHL7)
• Presynaptic congenital myasthenic syndrome (VAMP1)
• Spinal muscular atrophy 1-4 (SMN1)
• Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
• Spinal muscular atrophy, XL 2, infantile (UBA1)
• Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
• Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
• Wieacker-Wolff syndrome (ZC4H2)
• Wieacker-Wolff syndrome, female-restricted (ZC4H2)