ErkrankungArthrogrypose, syndromal; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 8 bzw. zusammen genommen 51 Genen zur umfassenden Untersuchung der bekannten genetisch bedingten, syndromalen Formen der Arthrogrypose
ID
AP9631
Anzahl Gene
51
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
20,1 kb (Core-/Basis-Gene)
143,9 kb (Erweitertes Panel)
143,9 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 |
---|---|---|---|
CHRNA1 | 1374 | AD und/oder AR | |
CHRND | 1554 | AD und/oder AR | |
CHRNG | 1554 | AR | |
FKBP10 | 1749 | AR | |
FLNB | 7809 | AD und/oder AR | |
IRF6 | 1404 | AD | |
PLOD2 | 2277 | AR | |
RIPK4 | 2355 | AR | |
ASXL1 | 4626 | AD und/oder SMu | |
BLTP1 | 15018 | AR | |
CHAT | 2247 | AR | |
CHRNB1 | 1506 | AD und/oder AR | |
CHRNE | 1482 | AD und/oder AR | |
CHST14 | 1131 | AR | |
COLQ | 1368 | AR | |
CRLF1 | 1269 | AR | |
DPAGT1 | 1227 | AR | |
ERCC6 | 4482 | AD und/oder AR und/oder SMu und/oder Sus | |
ERCC8 | 1191 | AR und/oder Sus | |
FAM20C | 1755 | AR | |
FGFR2 | 2466 | AD und/oder Sus | |
FGFR3 | 2421 | AD und/oder AR und/oder SMu | |
HSPG2 | 13176 | AR | |
KAT6B | 6222 | AD und/oder Impr | |
KLHL7 | 1761 | AD und/oder AR | |
MAGEL2 | 3750 | AD | |
MUSK | 2610 | AR | |
MYH8 | 5814 | AD | |
MYMK | 671 | AR | |
PIEZO2 | 8259 | AD und/oder AR | |
PLOD1 | 2184 | AR | |
POMGNT2 | 1743 | AR | |
POR | 2043 | AR | |
PRG4 | 4092 | AR | |
RAPSN | 1239 | AR | |
SCARF2 | 2613 | AR | |
SCN4A | 5511 | AD und/oder AR und/oder Ass | |
SKI | 2187 | AD | |
SLC5A7 | 1743 | AD und/oder AR | |
SMAD3 | 1278 | AD | |
SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
STIM1 | 2058 | AD und/oder AR | |
TGFB2 | 1245 | AD | |
TGFB3 | 1239 | AD | |
TGFBR1 | 1512 | AD | |
TGFBR2 | 1704 | AD | |
TPM2 | 855 | AD | |
VAMP1 | 357 | AD und/oder AR | |
VIPAS39 | 1482 | AR | |
VPS33B | 1854 | AR | |
ZC4H2 | 675 | XLR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen: >30 verschiedene Syndrome mit Arthrogrypose (ORPHANET)
Synonyme
- Allelic: Barrett esophagus/esophageal adenocarcinoma (ASCC1)
- Allelic: CHAND syndrome (RIPK4)
- Allelic: Cardiomyopathy, dilated, 1G (TTN)
- Allelic: Cardiomyopathy, dilated, 1S (MYH7)
- Allelic: Cardiomyopathy, dilated, 1X (FKTN)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
- Allelic: Dystonia 27 (COL6A3)
- Allelic: Dystonia-1, modifier of (TOR1A)
- Allelic: Dystonia-1, torsion (TOR1A)
- Allelic: Immunodeficiency 9 (ORAI1)
- Allelic: Larsen syndrome (FLNB)
- Allelic: Left ventricular noncompaction 5 (MYH7)
- Allelic: Macular degeneration, early-onset (FBN2)
- Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
- Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Allelic: Mental retardation, AD 13 (DYNC1H1)
- Allelic: Myasthenic syndrome, cong., 3C, ass. with acetylcholine receptor deficiency (CHRND)
- Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
- Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
- Allelic: Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
- Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
- Allelic: Orofacial cleft 6 (IRF6)
- Allelic: Osteogenesis imperfecta, type XI (FKBP10)
- Allelic: Polyglucosan body disease, adult form (GBE1)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Sodium serum level QTL 1 (TRPV4)
- Allelic: Spondylocarpotarsal synostosis syndrome (FLNB)
- Allelic: van der Woude syndrome (IRF6)
- Alkuraya-Kucinskas syndrome [arthrogryposis, brain abnormalities] (KIAA1109)
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (POR)
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
- Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
- Arthrogryposis multiplex congenita 5 (TOR1A)
- Arthrogryposis multiplex congenita 6 (NEB)
- 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 5D (ECEL1)
- Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
- Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS39)
- Atelosteogenesis, type I (FLNB)
- Atelosteogenesis, type III (FLNB)
- Atelosteogenesis, types I, III; Boomerang dysplasia (FLNB)
- Avascular necrosis of femoral head, primary, 2 (TRPV4)
- Bethlem myopathy 1 (COL6A1-3)
- Bethlem myopathy 2 (COL12A1)
- Bohring-Opitz syndrome (ASXL1)
- Boomerang dysplasia (FLNB)
- Brachyolmia type 3 (TRPV4)
- Bruck syndrome 1 (FKBP10)
- Bruck syndrome 2 (PLOD2)
- CAP myopathy 1 (TPM3)
- CATSHL syndrome [CAmptodactyly, Tall Stature, Hearing Loss] (FGFR3)
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4)
- Carey-Fineman-Ziter syndrome [hypotonia, Moebius + Pierre Robin complex, delayed motor] (MYMK)
- Carney complex variant (MYH8)
- Central core disease (RYR1)
- Centronuclear myopathy 1 (DNM2)
- Charcot-Marie-Tooth disease, DI B (DNM2)
- Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
- Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
- Cockayne syndrome, type A (ERCC8)
- Cockayne syndrome, type B (ERCC6)
- Cold-induced sweating syndrome 1 (CRLF1)
- Congenital arthrogryposis with anterior horn cell disease (GLE1)
- Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
- Congenital disorder of glycosylation, type Id (ALG3)
- Contractural arachnodactyly, congenital (FBN2)
- Contractures, pterygia, + spondylocarpostarsal fusion syndrome 1A (MYH3)
- Contractures, pterygia, + spondylocarpotarsal fusion syndrome 1B (MYh3)
- Desmosterolosis (DHCR24)
- Developmental + epileptic encephalopathy 69 (CACNA1E)
- Digital arthropathy-brachydactyly, familial (TRPV4)
- Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
- Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
- Escobar syndrome (CHRNG)
- Escobar syndrome [Lit.] (TPM2)
- Fetal akinesia deformation sequence 3 (DOK7)
- Gaucher disease, perinatal lethal (GBA)
- Gaucher disease, type I, II, III, IIIC (GBA)
- Genitopatellar syndrome (KAT6B)
- Glycogen storage disease IV (GBE1)
- Glycogen storage disease VII (PFKM)
- Hereditary motor + sensory neuropathy, type IIc (TRPV4)
- Hyaline fibromatosis syndrome (ANTXR2)
- Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
- Hypotonia, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
- King-Denborough syndrome (RYR1)
- Laing distal myopathy (MYH7)
- Lethal congenital contracture syndrome 1 (GLE1)
- Lethal congenital contracture syndrome 11 (GLDN)
- Lethal congenital contracture syndrome 5 (DNM2)
- Lethal congenital contracture syndrome 7 (CNTNAP1)
- Lethal congenital contracture syndrome 9 (ADGRG6)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Loeys-Dietz syndrome 3 (SMAD3)
- Loeys-Dietz syndrome 4 (TGFB2)
- Loeys-Dietz syndrome 5 (TGFB3)
- Marden-Walker syndrome (PIEZO2)
- Metatropic dysplasia (TRPV4)
- Minicore myopathy with external ophthalmoplegia (RYR1)
- Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
- Muscular dystrophy, cong., merosin deficient or partially deficient (LAMA2)
- Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
- Muscular dystrophy, rigid spine, 1 (SELENON)
- Muscular dystrophy-dystroglycanopathy limb-girdle), type C, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 12 (POMK)
- Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 2 (POMT2)
- 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)
- 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, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 10 (RXYLT1)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
- 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, 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, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 8 (POMGNT2)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
- Muscular dystrophy-dystroglycanopathy, cong. with mental retardation), type B, 14 (GMPPB)
- 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 mental retardation, type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 2 (POMT2)
- 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, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
- Myasthenic syndrome, congenital, 10 (DOK7)
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSN)
- Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
- Myasthenic syndrome, congenital, 16 (SCN4A)
- Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
- Myasthenic syndrome, congenital, 25 (VAMP1)
- Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
- Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CHRNB1)
- 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)
- Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (MUSK)
- Myhre syndrome (SMAD4)
- Myopathy, actin, congenital, with cores (ACTA1)
- Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
- Myopathy, congenital, Baily-Bloch (STAC3)
- Myopathy, congenital, with fast-twitch, type II, fiber atrophy (MYL1)
- Myopathy, congenital, with fiber-type disproportion (SELENON)
- Myopathy, congenital, with fiber-type disproportion (TPM3)
- Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
- Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Myopathy, myosin storage, AD (MYH7)
- Myopathy, myosin storage, AR (MYH7)
- Myopathy, scapulohumeroperoneal (ACTA1)
- Myopathy, tubular aggregate, 2 (ORAI1)
- Myosclerosis, congenital (COL6A2)
- Myotubular myopathy, XL (MTM1)
- Nemaline myopathy 1, AD/AR (TPM3)
- Nemaline myopathy 10 (LMOD3)
- Nemaline myopathy 2, AR (NEB)
- Nemaline myopathy 3, AR/AD (ACTA1)
- Nemaline myopathy 5, Amish type (TNNT1)
- Nemaline myopathy 8, AR (KLHL40)
- Nemaline myopathy 9 (KLHL41)
- Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (SMPD4)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Neuronopathy, distal hereditary motor, type VIII (TRPV4)
- PERCHING syndrome [global developm. delay, dysmorphic face, poor growth, contractures] (KLHL7)
- Parastremmatic dwarfism (TRPV4)
- Peroxisome biogenesis disorders (PEX1-3, PEX5-7, PEX10-14, PEX16, PEX19, PEX26)
- Pontocerebellar hypoplasia type 2A (TSEN54)
- Pontocerebellar hypoplasia type 4 (TSEN54)
- Pontocerebellar hypoplasia type 5 (TSEN54)
- Pontocerebellar hypoplasia, type 1B (EXOSC3)
- Popliteal pterygium syndrome 1 (IRF6)
- Popliteal pterygium syndrome, Bartsocas-Papas type (RIPK4)
- Proximal myopathy + ophthalmoplegia (MYBPC1)
- Proximal myopathy + ophthalmoplegia (MYH2)
- Raine syndrome [neonatal osteosclerotic bone dysplasia] (FAM20C)
- Restrictive dermopathy, lethal (ZMPSTE24)
- SED, Maroteaux type (TRPV4)
- Salih myopathy (TTN)
- Scapuloperoneal spinal muscular atrophy (TRPV4)
- Scapuloperoneal syndrome, myopathic type (MYH7)
- Schaaf-Yang syndr. [delayed psychomotor/intell. developm., hypotonia, behav. abnorm.] (MAGEL2)
- Schwartz-Jampel syndrome, type 1 (HSPG2)
- Shprintzen-Goldberg syndrome [craniosynostosis, marfanoid, skeletal, neurologic, cardiovasc.] (SKI)
- Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
- Spinal muscular atrophy, XL 2, infantile (UBA1)
- 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-0, -1, -2, -3, -4 (SMN1)
- Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
- Stormorken syndrome [bleeding, thrombocytopenia, anemia, asplenia, tub. aggr. myopathy...] (STIM1)
- Tibial muscular dystrophy, tardive (TTN)
- Ullrich congenital muscular dystrophy 1 (COL6A1-3)
- Ullrich congenital muscular dystrophy 2 (COL12A1)
- Van den Ende-Gupta syndrome [contractual arachnodactyly + distinctive face] (SCARF2)
- Weill-Marchesani syndrome 1, recessive (ADAMTS10)
- Wieacker-Wolff syndrome [severe neurodevelopmental disorder affecting CNS + PNS] (ZC4H2)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Ass
- AD und/oder AR und/oder SMu
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder Impr
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR
- AR und/oder Sus
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q74.3
Bioinformatik und klinische Interpretation
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