Details of Disease

General Information of Disease (ID: DISUPY6A)

Disease Name Progressive familial heart block, type 1A
Synonyms
progressive familial heart block type IA; Lenegre-Lev disease; hereditary bundle branch system defect; heart block, nonprogressive; heart block progressive familial type 1; heart block, progressive familial, type 1; Lev disease; Lenegre disease; Lenegre's syndrome; Cardiac conduction defect, progressive; progressive familial heart block type 1A; Cardiac conduction defect, nonprogressive; progressive familial heart block, type IA; SCN5A progressive familial heart block; PFHB1A; heart block, progressive, type IA; Lenegre's disease; progressive familial heart block caused by mutation in SCN5A
Definition An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.|Editor note: consider separating aquired and inherited
Disease Hierarchy
DISED5HG: Conduction system disorder
DISNEF3B: Progressive familial heart block
DIS1W8PP: Tachyarrhythmias
DISUPY6A: Progressive familial heart block, type 1A
Disease Identifiers
MONDO ID
MONDO_0007240
MESH ID
C566873
UMLS CUI
C1879286
OMIM ID
113900
MedGen ID
406301
SNOMED CT ID
283645003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNA7 TTCVBT7 Strong Biomarker [1]
SCN5A TTZOVE0 Strong Autosomal dominant [2]
TRPM4 TTJ2HKA Strong Biomarker [3]
SCN5A TTZOVE0 Definitive Genetic Variation [4]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NPRL3 OTS4HE8E Disputed Biomarker [5]
SCN1B OTGD78J3 Disputed GermlineCausalMutation [6]
NKX2-5 OTS1SAWM Strong GermlineModifyingMutation [7]
SCN5A OTGYZWR6 Strong Autosomal dominant [2]
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References

1 Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI). Eur J Hum Genet. 2002 Jan;10(1):36-43.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3 Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.Int J Cardiol. 2016 Mar 15;207:349-58. doi: 10.1016/j.ijcard.2016.01.052. Epub 2016 Jan 11.
4 MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.Circ Arrhythm Electrophysiol. 2013 Apr;6(2):392-401. doi: 10.1161/CIRCEP.111.000206. Epub 2013 Feb 18.
5 Arrhythmic Burden as Determined by Ambulatory Continuous Cardiac Monitoring in Patients With New-Onset Persistent Left Bundle Branch Block Following Transcatheter Aortic ValveReplacement: The MARE Study.JACC Cardiovasc Interv. 2018 Aug 13;11(15):1495-1505. doi: 10.1016/j.jcin.2018.04.016. Epub 2018 Jul 18.
6 Sodium channel 1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891.
7 Novel NKX2-5 mutations responsible for congenital heart disease.Genet Mol Res. 2011 Nov 29;10(4):2905-15. doi: 10.4238/2011.November.29.1.