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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CHRNA11374AD und/oder AR
CHRND1554AD und/oder AR
CHRNG1554AR
FKBP101749AR
FLNB7809AD und/oder AR
IRF61404AD
PLOD22277AR
RIPK42355AR
ASXL14626AD und/oder SMu
BLTP115018AR
CHAT2247AR
CHRNB11506AD und/oder AR
CHRNE1482AD und/oder AR
CHST141131AR
COLQ1368AR
CRLF11269AR
DPAGT11227AR
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC81191AR und/oder Sus
FAM20C1755AR
FGFR22466AD und/oder Sus
FGFR32421AD und/oder AR und/oder SMu
HSPG213176AR
KAT6B6222AD und/oder Impr
KLHL71761AD und/oder AR
MAGEL23750AD
MUSK2610AR
MYH85814AD
MYMK671AR
PIEZO28259AD und/oder AR
PLOD12184AR
POMGNT21743AR
POR2043AR
PRG44092AR
RAPSN1239AR
SCARF22613AR
SCN4A5511AD und/oder AR und/oder Ass
SKI2187AD
SLC5A71743AD und/oder AR
SMAD31278AD
SMAD41659AD und/oder SMu und/oder Sus
STIM12058AD und/oder AR
TGFB21245AD
TGFB31239AD
TGFBR11512AD
TGFBR21704AD
TPM2855AD
VAMP1357AD und/oder AR
VIPAS391482AR
VPS33B1854AR
ZC4H2675XLR

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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