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Klinische FragestellungLinksventrikuläre "non-compaction"- Kardiomyopathie, Differentialdiagnose

Zusammenfassung

Kurzinformation

LP1706_KI

ID
LP1706
Anzahl Loci
Loci-TypAnzahl
Gen32
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
111,1 kb (Core-/Core-canditate-Gene)
211,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

LP1706_DH

 

Locipanel

Gen

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ACTC11134NM_005159.5AD
MYBPC33825NM_000256.3AD
MYH75808NM_000257.4AD
TTN100272NM_001267550.2n.k.
ABCC94650NM_005691.4AD
ACTN22685NM_001103.4AD
ANK211874NM_001148.6n.k.
CACNA2D13276NM_000722.4n.k.
CASQ21200NM_001232.4AR
DES1413NM_001927.4AD, AR
DSP8616NM_004415.4n.k.
DTNA1116NM_001128175.2AD
FKTN1386NM_001079802.2n.k.
HCN43612NM_005477.3AD
HFE1047NM_000410.4n.k.
JUP2238NM_002230.4n.k.
KCNE3312NM_005472.5n.k.
KCNH23480NM_000238.4n.k.
KCNQ12031NM_000218.3n.k.
LDB3852NM_001080116.1AD
LMNA1995NM_170707.4n.k.
MYL2501NM_000432.4AD
NEBL675NM_001173484.2n.k.
OBSCN19863NM_052843.4n.k.
PKP22646NM_004572.4n.k.
RYR214904NM_001035.3n.k.
SCN5A6051NM_198056.3n.k.
TAFAZZIN879NM_000116.5XL
TNNC1486NM_003280.3n.k.
TNNI3633NM_000363.5n.k.
TNNT2867NM_001001430.3AD
TPM1855NM_001018005.2AD

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_LP1706

 

Synonyme
  • Alias: Fetal myocardium
  • Alias: Honeycomb myocardium
  • Alias: Hypertrabeculation syndrome
  • Alias: Hypertrabekulierung, linksventrikuläre
  • Alias: Isolated noncompaction of the ventricular myocardium
  • Alias: LVNC, LVHT
  • Alias: Left ventricular hypertrabeculation
  • Alias: Left ventricular myocardial noncompaction cardiomyopathy
  • Alias: Left ventricular non-compaction
  • Alias: Myokard, spongiöses
  • Alias: Non-compaction of the left ventricular myocardium
  • Alias: Noncompaction cardiomyopathy
  • Alias: Spongy myocardium
  • Allelic: Alzheimer disease, susceptibility to (HFE)
  • Allelic: Arrhythmogenic right ventricular dysplasia 12 (JUP)
  • Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Allelic: Arrhythmogenic right ventricular dysplasia 9 (PKP2)
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Atrial fibrillation, familial, 12 (ABCC9)
  • Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
  • Allelic: Atrial septal defect 5 (ACTC1)
  • Allelic: Brugada syndrome 1 (SCN5A)
  • Allelic: Brugada syndrome 6 (KCNE3)
  • Allelic: Brugada syndrome 8 (HCN4A)
  • Allelic: Cardiac arrhythmia, ankyrin-B-related (ANK2)
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
  • Allelic: Cardiomyopathy, dilated, 1FF (TNNI3)
  • Allelic: Cardiomyopathy, dilated, 1G (TTN)
  • Allelic: Cardiomyopathy, dilated, 1I (DES)
  • Allelic: Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
  • Allelic: Cardiomyopathy, dilated, 1R (ACTC1)
  • Allelic: Cardiomyopathy, dilated, 1S (MYH7)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Cardiomyopathy, dilated, 1Z (TNNC1)
  • Allelic: Cardiomyopathy, dilated, 2A (TNNI3)
  • Allelic: Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Allelic: Cardiomyopathy, familial restrictive, 1 (TNNI3)
  • Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Allelic: Cardiomyopathy, hypertrophic, 10 (MYL2)
  • Allelic: Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Allelic: Cardiomyopathy, hypertrophic, 13 (TNNC1)
  • Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Allelic: Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Allelic: Cardiomyopathy, hypertrophic, 7 (TNNI3)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Congenital myopathy 5 with cardiomyopathy (TTN)
  • Allelic: Congenital myopathy 7A, myosin storage, Ad (MYH7)
  • Allelic: Congenital myopathy 7B, myosin storage, AR (MYH7)
  • Allelic: Congenital myopathy 8 (ACTN2)
  • Allelic: Developmental and epileptic encephalopathy 110 (CACNA2D1)
  • Allelic: Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HCN4A)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Hemochromatosis (HFE)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
  • Allelic: Intellectual disability + myopathy syndrome (ABCC9)
  • Allelic: Jervell and Lange-Nielsen syndrome (KCNQ1)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Long QT syndrome 1 (KCNQ1)
  • Allelic: Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Allelic: Long QT syndrome 2 (KCNH2)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Long QT syndrome 4 (ANK2)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Microvascular complications of diabetes 7 (HFE)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Muscular dystrophy, limb-girdle, Ar 10 (TTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy, cong. without impaired intell. dev, type B, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
  • Allelic: Myopathy, distal, 6, adult onset (ACTN2)
  • Allelic: Myopathy, myofibrillar, 1 (DES)
  • Allelic: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MYL2)
  • Allelic: Myopathy, myofibrillar, 4 (LDB3)
  • Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Allelic: Naxos disease (JUP)
  • Allelic: Porphyria cutanea tarda, susceptibility to (HFE)
  • Allelic: Porphyria variegata, susceptibility to (HFE)
  • Allelic: Restrictive dermopathy 2 (LMNA)
  • Allelic: Rhabdomyolysis, susceptibility to, 1 (OBSCN)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Short QT syndrome 1 (KCNH2)
  • Allelic: Short QT syndrome 2 (KCNQ1)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Allelic: Sick sinus syndrome 2 (HCN4A)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Allelic: Transferrin serum level QTL2 (HFE)
  • Allelic: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release def. syn. (RYR2)
  • Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
  • Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
  • Cardiomyopathy, dilated, 1AA, +(- LVNC (ACTN2)
  • Cardiomyopathy, dilated, 1C, +/- LVNC (LDB3)
  • Cardiomyopathy, hypertrophic, 23, +/- LVNC (ACTN2)
  • Left ventricular noncompaction 1, +/- congenital heart defects (DTNA)
  • Left ventricular noncompaction 10 (MYBPC3)
  • Left ventricular noncompaction 3 (LDB3)
  • Left ventricular noncompaction 4 (ACTC1)
  • Left ventricular noncompaction 5 (MYH7)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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