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ErkrankungGliedergürtel-Muskeldystrophie, autosomal rezessiv; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Gliedergürtel-Muskeldystrophie, autosomal rezessiv, mit 11 Leitlinien-kuratierten bzw. insgesamt 39 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP0042
Anzahl Gene
32 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
47,2 kb (Core-/Basis-Gene)
88,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ANO52742AD und/oder AR
CAPN32466AD und/oder AR
CRPPA1356AR
DAG12688AR
DYSF6243AR
FKRP1488AR
FKTN1386AR
GNE2262AD und/oder AR
PLEC13725AD und/oder AR
POMGNT11983AR
POMT12244AR
POMT22253AR
SGCA1164AR
SGCB957AR
SGCD873AR
SGCG876AR
TCAP504AD und/oder AR
TRIM321962AR
BVES1083AR
COL6A13087AD und/oder AR
COL6A23060AD und/oder AR
COL6A39534AD und/oder AR
DES1413AD und/oder AR
DOK71515AR
GMPPB1164AR
LAMA29369AR
LIMS21092AR
LMNA1995AD und/oder AR und/oder Dig
POGLUT11179AD und/oder AR
POMGNT21743AR
TOR1AIP11755AR
TRAPPC113402AR

Infos zur Erkrankung

Klinischer Kommentar

Heterogene Gruppe von Muskeldystrophien mit proximaler Schwäche im Becken- + Schultergürtel; bei bestimmten Formen kardiale + respiratorische Beeinträchtigung

 

Synonyme
  • Allelic: Bardet-Biedl syndrome 11 (TRIM32)
  • Allelic: Cardiomyopathy, dilated, 1G (TTN)
  • Allelic: Cardiomyopathy, dilated, 1L (SGCD)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
  • Allelic: Dowling-Degos disease 4 (POGLUT1)
  • Allelic: Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
  • Allelic: Epidermolysis bullosa simplex with pyloric atresia (PLEC)
  • Allelic: Epidermolysis bullosa simplex, Ogna type (PLEC)
  • Allelic: Fetal akinesia deformation sequence 2 (RAPSN)
  • Allelic: Gnathodiaphyseal dysplasia (ANO5)
  • Allelic: Miyoshi muscular dystrophy 1 (DYSF)
  • Allelic: Miyoshi muscular dystrophy 3 (ANO5)
  • Allelic: Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 7 (CRPPA)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong. with/-out mental retard. type B, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong., brain + eye anomalies, type A, 12 (POMK)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong., brain + eye anomalies, type A, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy cong., brain + eye anomalies, type A, 8 (POMGNT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy with brain + eye anomalies (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy without mental retardation (FKTN)
  • Allelic: Myopathy, distal, with anterior tibial onset (DYSF)
  • Allelic: Myopathy, myofibrillar, 8 (PYROXD1)
  • Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Salih myopathy (TTN)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Adult-onset limb girdle muscular dystrophy (PYROXD1)
  • Facioscapulohumeral muscular dystrophy (LRIF1)
  • Muscular dystrophy, AR, with cardiomyopathy + triangular tongue (LIMS2)
  • Muscular dystrophy, AR, with rigid spine + distal joint contractures (TORAIP1)
  • Muscular dystrophy, limb girdle, "LGMD2T" (DOK7)
  • Muscular dystrophy, limb-girdle [panelapp] (RAPSN)
  • Muscular dystrophy, limb-girdle, AR 1 (CAPN3)
  • Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Muscular dystrophy, limb-girdle, AR 12 (ANO5)
  • Muscular dystrophy, limb-girdle, AR 17 (PLEC)
  • Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
  • Muscular dystrophy, limb-girdle, AR 2 (DYSF)
  • Muscular dystrophy, limb-girdle, AR 21 (POGLUT1)
  • Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
  • Muscular dystrophy, limb-girdle, AR 25 (BVES)
  • Muscular dystrophy, limb-girdle, AR 26 (POPDC3)
  • Muscular dystrophy, limb-girdle, AR 3 (SGCA)
  • Muscular dystrophy, limb-girdle, AR 4 (SGCB)
  • Muscular dystrophy, limb-girdle, AR 5 (SGCG)
  • Muscular dystrophy, limb-girdle, AR 6 (SGCD)
  • Muscular dystrophy, limb-girdle, AR 7 (TCAP)
  • Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
  • Muscular dystrophy, limb-girdle, type 2W [panelapp] (LIMS2)
  • Muscular dystrophy, limb-girdle, type 2X [panelapp] (BVES)
  • Muscular dystrophy, limb-girdle, type 2Y [MONDO:0014900] (TOR1AIP)
  • Muscular dystrophy-dystroglycanopathy cong. + impaired intellectual development, type B, 15 (DPM3)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy limb-girdle type C, 15 (DPM3)
  • 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, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 12 (POMK)
  • Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 7 (CRPPA syn. ISPD)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G71.0

Bioinformatik und klinische Interpretation

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