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ErkrankungArthrogrypose, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 138 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Formen der Arthrogrypose; Mutationen in 8 Genen erfassen die weitaus häufigsten Mutationen.

ID
AP0920
Anzahl Gene
134 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,7 kb (Core-/Basis-Gene)
395,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • EDTA-Blut (3-5 ml)
  • Fruchtwasser (nach AC)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ECEL12328AR
FBN28739AD
GLE12097AR
MYBPC13516AD und/oder AR
MYH35823AD und/oder AR
TNNI2549AD
TNNT3777AD
TPM2855AD
ACTA11134AD und/oder AR
ADAMTS103312AR
ADCY63507AR
ADGRG63858AR
ALG31173AR
ANTXR21470AR
ASCC11074AR
ASXL14626AD und/oder SMu
B3GALNT21503AR
B4GAT11248AR
BICD22568AD
BLTP115018AR
CACNA1E6813AD
CHAT2247AR
CHRNA11374AD und/oder AR
CHRNB11506AD und/oder AR
CHRND1554AD und/oder AR
CHRNE1482AD und/oder AR
CHRNG1554AR
CHST141131AR
CNTNAP14155AR
COL12A19192AD
COL6A13087AD und/oder AR
COL6A23060AD und/oder AR
COL6A39534AD und/oder AR
COLQ1368AR
CRLF11269AR
CRPPA1356AR
DAG12688AR
DHCR241551AR
DNM22613AD und/oder AR und/oder SMu
DOK71515AR
DPAGT11227AR
DYNC1H113941AD
ERBB34029AD und/oder AR
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC81191AR und/oder Sus
EXOSC3828AR
FAM20C1755AR
FGFR22466AD und/oder Sus
FGFR32421AD und/oder AR und/oder SMu
FKBP101749AR
FKRP1488AR
FKTN1386AR
FLNB7809AD und/oder AR
GBA1611AD und/oder AR und/oder Sus
GBE12109AR
GLDN1670AR
GMPPB1164AR
HSPG213176AR
IRF61404AD
KAT6B6222AD und/oder Impr
KIF144947AR
KLHL401866AR
KLHL411821AR
KLHL71761AD und/oder AR
LAMA29369AR
LARGE12271AR
LGI41614AR
LMOD31683AR
MAGEL23750AD
MTM11812XLR
MUSK2610AR
MYH25826AD und/oder AR
MYH75808AD und/oder AR und/oder Dig
MYH85814AD
MYL1585AR
MYMK671AR
MYOD1963AR
NALCN5217AD und/oder AR
ORAI1912AD und/oder AR
PEX13852AR
PEX101041AR
PEX121080AR
PEX131212AR
PEX141134AR
PEX161011AR
PEX19900AR
PEX2918AR
PEX26918AR
PEX31122AR
PEX51920AR
PEX62943AD und/oder AR
PEX7972AR
PFKM2343AR
PIEZO28259AD und/oder AR
PIP5K1C2007AR
PLOD12184AR
PLOD22277AR
POMGNT11983AR
POMGNT21743AR
POMK1053AR
POMT12244AR
POMT22253AR
POR2043AR
PRG44092AR
RAPSN1239AR
RIPK42355AR
RXYLT11355AR
RYR115117AD und/oder AR
SCARF22613AR
SCN4A5511AD und/oder AR und/oder Ass
SELENON1773AD und/oder AR
SKI2187AD
SLC5A71743AD und/oder AR
SMAD31278AD
SMAD41659AD und/oder SMu und/oder Sus
SMN1885AR
STAC31095AR
STIM12058AD und/oder AR
SYNE126250AD und/oder AR
TGFB21245AD
TGFB31239AD
TGFBR11512AD
TGFBR21704AD
TNNT1837AR
TOR1A999AD
TPM3858AD und/oder AR
TRPV42616AD
TSEN541581AR
UBA13177XLR
VAMP1357AD und/oder AR
VIPAS391482AR
VPS33B1854AR
ZC4H2675XLR
ZMPSTE241428AR

Infos zur Erkrankung

Klinischer Kommentar

Arthrogryposis oder Arthrogryposis multiplex congenita bezeichnet nicht-progressive Erkrankungen, die durch multiple Gelenkkontrakturen im gesamten Körper gekennzeichnet sind. Gliedmaßen-Deformitäten (Hautfalten, Verkürzungen, dislozierte Knochen, Luxationen), Skoliose, Genitalfehlbildungen und Hernien werden beobachtet. Die Gesichtsdeformitäten umfassen u.a. Asymmetrie, Hämangiom und Mikrognathie. Fehlbildungen können auch Kraniosynostosen, die Augen, den Gaumen und das zentrale Nervensystem betreffen. Die etwa 400 heterogenen Erkrankungen, die die gemeinsamen Merkmale der multiplen Kontrakturen verursachen, werden fast immer autosomal dominant oder rezessiv vererbt. Pränatal kann die molekulargenetische diagnostische Ausbeute in schweren Fällen über 50% betragen, postnatal hängt die Ausbeute ebenfalls stark von der Qualität der klinischen Abklärung ab und kann 60% übertreffen. Ein negatives Ergebnis stellt keinen Ausschluss der klinischen Diagnose dar.

(Basisdiagnostik-Gene: ###; zusätzliche Gene: ###)

Referenzen: https://doi.org/10.3389/fphys.2020.00689

https://doi.org/10.1002/ajmg.c.31721

https://www.jci.org/articles/view/84457

 

Synonyme
  • Alias: Arthrogryposis syndrome
  • Allelic: Achondroplasia (FGFR3)
  • Allelic: Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
  • Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Allelic: Apert syndrome (FGFR2)
  • Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
  • Allelic: Avascular necrosis of femoral head, primary, 2 (TRPV4)
  • Allelic: Barrett esophagusesophageal adenocarcinoma (ASCC1)
  • Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Allelic: Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
  • Allelic: Bethlem myopathy 2 (COL12A1)
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: Bohring-Opitz [Opitz trigonocephaly-like] syndrome (ASXL1)
  • Allelic: Brachyolmia type 3 (TRPV4)
  • Allelic: CAP myopathy 1 (TPM3)
  • Allelic: CAP myopathy 2 (TPM2)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: CHAND syndrome (RIPK4)
  • Allelic: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4)
  • 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: Central core disease (RYR1)
  • Allelic: Centronuclear myopathy 1 (DNM2)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • 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: Cockayne syndrome, type B (ERCC6)
  • Allelic: Cold-induced sweating syndrome 1 (CRLF1)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Congenital disorder of glycosylation, type Id (ALG3)
  • Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
  • Allelic: Congenital myopathy (TPM2)
  • Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Allelic: Craniosynostosis, nonspecific (FGFR2)
  • Allelic: Crouzon syndrome (FGFR2)
  • Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Allelic: De Sanctis-Cacchione syndrome (ERCC6)
  • Allelic: Desmosterolosis (DHCR24)
  • Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
  • Allelic: Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
  • Allelic: Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
  • Allelic: Dystonia 27 (COL6A3)
  • Allelic: Dystonia-1, modifier of (TOR1A)
  • Allelic: Dystonia-1, torsion (TOR1A)
  • Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Allelic: Epileptic encephalopathy, early infantile, 69 (CACNA1E)
  • Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
  • Allelic: Esophageal cancer, somatic (TGFBR2)
  • Allelic: Gastric cancer, somatic (FGFR2)
  • Allelic: Gaucher disease, types I, II, III, IIIC (GBA)
  • Allelic: Genitopatellar syndrome (KAT6B)
  • Allelic: Heimler syndrome 1 (PEX1)
  • Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Allelic: Hyaline fibromatosis syndrome (ANTXR2)
  • Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Hypochondroplasia (FGFR3)
  • Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
  • Allelic: Hypotonia, infantile, psychomotor retardation + characteristic facies 1 (NALCN)
  • Allelic: Immunodeficiency 10 (STIM1)
  • Allelic: Immunodeficiency 9 (ORAI1)
  • Allelic: Jackson-Weiss syndrome (FGFR2)
  • Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Allelic: King-Denborough syndrome (RYR1)
  • Allelic: LADD syndrome (FGFR2)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Larsen syndrome (FLNB)
  • Allelic: Left ventricular noncompaction 5 (MYH7)
  • Allelic: Loeys-Dietz syndrome 1 (TGFBR1)
  • Allelic: Loeys-Dietz syndrome 2 (TGFBR2)
  • Allelic: Loeys-Dietz syndrome 3 (SMAD3)
  • Allelic: Loeys-Dietz syndrome 4 (TGFB2)
  • Allelic: Loeys-Dietz syndrome 5 (TGFB3)
  • Allelic: Macular degeneration, early-onset (FBN2)
  • Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
  • Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Allelic: Meckel syndrome 12 (KIF14)
  • Allelic: Mental retardation, AD 13 (DYNC1H1)
  • Allelic: Metatropic dysplasia (TRPV4)
  • Allelic: Microcephaly 20, primary, AR (KIF14)
  • Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (GMPPB)
  • Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
  • Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
  • Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA)
  • Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (DAG1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anom., type A, 11 (B3GALNT2)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 12 (POMK)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 13 (B4GAT1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 2 (POMT2)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 6 (LARGE1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (CRPPA)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 8 (POMGNT2)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 2 (POMT2)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 6 (LARGE1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
  • Allelic: Muscular dystrophy, cong., merosin deficient or partially deficient (LAMA2)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • 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, 12 (POMK)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 (POMGNT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 6 (LARGE1)
  • 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., 2A, slow-channel (CHRNB1)
  • 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: Myelodysplastic syndrome, somatic (ASXL1)
  • Allelic: Myhre syndrome (SMAD4)
  • Allelic: Myopathy, actin, congenital, with cores (ACTA1)
  • Allelic: Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
  • Allelic: Myopathy, cong., diaphragm. defects, respiratory insufficiency dysmorphic facies (MYOD1)
  • Allelic: Myopathy, congenital, Baily-Bloch (STAC3)
  • Allelic: Myopathy, congenital, Compton-North (CNTN1)
  • Allelic: Myopathy, congenital, with fast-twitch (type II) fiber atrophy (MYL1)
  • Allelic: Myopathy, congenital, with fiber-type disproportion (SELENON)
  • 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: Myotubular myopathy, XL (MTM1)
  • Allelic: Nail-patella syndrome (LMX1B)
  • Allelic: Nemaline myopathy 1, AD/AR (TPM3)
  • Allelic: Nemaline myopathy 10 (LMOD3)
  • Allelic: Nemaline myopathy 3, AD/AR (ACTA1)
  • Allelic: Nemaline myopathy 4, AD (TPM2)
  • Allelic: Nemaline myopathy 8, AR (KLHL40)
  • Allelic: Nemaline myopathy 9, AR (KLHL41)
  • Allelic: Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
  • Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Nevus, epidermal, somatic (FGFR3)
  • Allelic: Orofacial cleft 6 (IRF6)
  • Allelic: Osteogenesis imperfecta, type XI (FKBP10)
  • Allelic: PERCHING syndrome (KLHL7)
  • Allelic: Pancreatic cancer, somatic (SMAD4)
  • Allelic: Paramyotonia congenita (SCN4A)
  • Allelic: Parastremmatic dwarfism (TRPV4)
  • Allelic: Peroxisome biogenesis disorder 1A [Zellweger] + 1B [NALD(IRD]
  • Allelic: Pfeiffer syndrome (FGFR2)
  • Allelic: Polyglucosan body disease, adult form (GBE1)
  • Allelic: Polyposis, juvenile intestinal (SMAD4)
  • Allelic: Pontocerebellar hypoplasia type 2A, 4, 5 (TSEN54)
  • Allelic: Pontocerebellar hypoplasia, type 1B (EXOSC3)
  • Allelic: Popliteal pterygium syndrome 1 (IRF6)
  • Allelic: Retinitis pigmentosa 42 (KLHL7)
  • Allelic: SADDAN (FGFR3)
  • Allelic: SBBYSS syndrome (KAT6B)
  • Allelic: Saethre-Chotzen syndrome (FGFR2)
  • Allelic: Salih myopathy (TTN)
  • Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Allelic: Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Allelic: Scapuloperoneal spinal muscular atrophy (TRPV4)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Schwartz-Jampel syndrome, type 1 (HSPG2)
  • Allelic: Shprintzen-Goldberg syndrome (SKI)
  • Allelic: Sodium serum level QTL 1 (TRPV4)
  • Allelic: Spastic ataxia 1, AD (VAMP1)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
  • Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
  • Allelic: Spondylocarpotarsal synostosis syndrome (FLNB)
  • Allelic: Spondyloepiphyseal dysplasia, Maroteaux type (TRPV4)
  • Allelic: Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Allelic: Stormorken syndrome (STIM1)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
  • Allelic: Ullrich congenital muscular dystrophy 2 (COL12A1)
  • Allelic: van der Woude syndrome (IRF6)
  • Alkuraya-Kucinskas syndrome [arthrogryposis, brain abnormalities, development delay] (KIAA1109)
  • Arthrogryposis (lethal), with anterior horn cell disease (GLE1)
  • Arthrogryposis multiplex congenita (MYH3, TNNI2, TPM2)
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
  • Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Arthrogryposis multiplex congenita 4, neurogenic, agenesis of the corpus callosum (SCYL2)
  • 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 1C (MYL11)
  • 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 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)
  • Atelosteogenesis, type I (FLNB)
  • Atelosteogenesis, type III (FLNB)
  • Bent bone dysplasia syndrome (FGFR2)
  • Boomerang dysplasia (FLNB)
  • Bruck syndrome 1 (FKBP10)
  • Bruck syndrome 2 (PLOD2)
  • Carey-Fineman-Ziter syndrome (MYMK)
  • Carney complex variant (MYH8)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Congenital arthrogryposis with anterior horn cell disease (GLE1)
  • Congenital contractures of the limbs + face, hypotonia, developmental delay (NALCN)
  • Congenital disorder of glycosylation, type Iu (DPM2)
  • Contractural arachnodactyly, congenita (FBN2)
  • Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A + 1B (MYH3)
  • Distal arthrogryposis multiplex congenita (TNNI2)
  • Distal arthrogryposis type 1 (TNNT3)
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
  • 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)
  • Fetal akinesia deformation sequence 4 (NUP88)
  • Gaucher disease, perinatal lethal (GBA)
  • Glycogen storage disease IV (GBE1)
  • Hyperekplexia 4 (ATAD1)
  • Lethal congenital contracture syndrome 1 (GLE1)
  • Lethal congenital contracture syndrome 11 (GLDN)
  • Lethal congenital contracture syndrome 2 (ERBB3)
  • Lethal congenital contracture syndrome 3 (PI5K1C)
  • Lethal congenital contracture syndrome 4 (MYBPC1)
  • Lethal congenital contracture syndrome 5 (DNM2)
  • Lethal congenital contracture syndrome 6 (ZBTB42)
  • Lethal congenital contracture syndrome 7 (CNTNAP1)
  • Lethal congenital contracture syndrome 8 (ADCY6)
  • Lethal congenital contracture syndrome 9 (ADGRG6)
  • Marden-Walker syndrome (PIEZO2)
  • Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
  • Muscular dystrophy, congenital, Davignon-Chauveau type (TRIP4)
  • Myasthenic syndrome, congenital, 21, presynaptic (SLC18A3)
  • Myopathy, congenital, Compton-North (CNTN1)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (MYMK)
  • Pontocerebellar hypoplasia, type 12 (COASY)
  • Popliteal pterygium syndrome, Bartsocas-Papas type (RIPK4)
  • Raine syndrome [osteosclerotic bone dysplasia, lethal] (FAM29C)
  • Restrictive dermopathy, lethal (ZMPSTE24)
  • Schaaf-Yang [Prader-Willi like] syndrome (MAGEL2)
  • Spinal muscular atrophy with congenital bone fractures 1 (TRIP4)
  • Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
  • Spinal muscular atrophy, XL 2, infantile [Arthrogryposis multiplex congenita, distal, XL] (UBA1)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
  • Thanatophoric dysplasia, type I (FGFR3)
  • Thanatophoric dysplasia, type II (FGFR3)
  • Van den Ende-Gupta syndrome [Blepharophimosis, arachnodactyly, cong. contractures] (SCARF2)
  • Weill-Marchesani [Spherophakia-brachymorpha] syndrome 1, AR (ADAMTS10)
  • Wieacker-Wolff syndrome (ZC4H2)
  • Wieacker-Wolff syndrome, female-restricted (ZC4H2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR 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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