Klinische FragestellungLinksventrikuläre "non-compaction"- Kardiomyopathie, Differentialdiagnose
Zusammenfassung
Kurzinformation
LP1706_KI
ID
LP1706
Anzahl Loci
Loci-Typ | Anzahl |
---|---|
Gen | 32 |
Untersuchte Sequenzlänge
111,1 kb (Core-/Core-canditate-Gene)
211,2 kb (Erweitertes Panel: inkl. additional genes)
211,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
LP1706_DH
Locipanel
Gen
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ACTC1 | 1134 | NM_005159.5 | AD | |
MYBPC3 | 3825 | NM_000256.3 | AD | |
MYH7 | 5808 | NM_000257.4 | AD | |
TTN | 100272 | NM_001267550.2 | n.k. | |
ABCC9 | 4650 | NM_005691.4 | AD | |
ACTN2 | 2685 | NM_001103.4 | AD | |
ANK2 | 11874 | NM_001148.6 | n.k. | |
CACNA2D1 | 3276 | NM_000722.4 | n.k. | |
CASQ2 | 1200 | NM_001232.4 | AR | |
DES | 1413 | NM_001927.4 | AD, AR | |
DSP | 8616 | NM_004415.4 | n.k. | |
DTNA | 1116 | NM_001128175.2 | AD | |
FKTN | 1386 | NM_001079802.2 | n.k. | |
HCN4 | 3612 | NM_005477.3 | AD | |
HFE | 1047 | NM_000410.4 | n.k. | |
JUP | 2238 | NM_002230.4 | n.k. | |
KCNE3 | 312 | NM_005472.5 | n.k. | |
KCNH2 | 3480 | NM_000238.4 | n.k. | |
KCNQ1 | 2031 | NM_000218.3 | n.k. | |
LDB3 | 852 | NM_001080116.1 | AD | |
LMNA | 1995 | NM_170707.4 | n.k. | |
MYL2 | 501 | NM_000432.4 | AD | |
NEBL | 675 | NM_001173484.2 | n.k. | |
OBSCN | 19863 | NM_052843.4 | n.k. | |
PKP2 | 2646 | NM_004572.4 | n.k. | |
RYR2 | 14904 | NM_001035.3 | n.k. | |
SCN5A | 6051 | NM_198056.3 | n.k. | |
TAFAZZIN | 879 | NM_000116.5 | XL | |
TNNC1 | 486 | NM_003280.3 | n.k. | |
TNNI3 | 633 | NM_000363.5 | n.k. | |
TNNT2 | 867 | NM_001001430.3 | AD | |
TPM1 | 855 | NM_001018005.2 | AD |
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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