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Progressive familial heart block, type IA; PFHB1A

Disease ID:786
Name:Progressive familial heart block, type IA; PFHB1A
Associated with:1 target
Familial progressive cardiac conduction defect
Database Links
OMIM: 113900
Orphanet: ORPHA871


Role:  Loss-of-function mutations in Nav1.5 leads to this inherited cardiac conduction failure.
References:  1
Mutations:  Nav1.5 is associated with 4 mutation. Click here for details


No ligand related data available for Progressive familial heart block, type IA; PFHB1A


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1. Royer A, van Veen TA, Le Bouter S, Marionneau C, Griol-Charhbili V, Léoni AL, Steenman M, van Rijen HV, Demolombe S, Goddard CA, Richer C, Escoubet B, Jarry-Guichard T, Colledge WH, Gros D, de Bakker JM, Grace AA, Escande D, Charpentier F. (2005) Mouse model of SCN5A-linked hereditary Lenègre's disease: age-related conduction slowing and myocardial fibrosis. Circulation, 111 (14): 1738-46. [PMID:15809371]

2. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H. (1999) Cardiac conduction defects associate with mutations in SCN5A. Nat. Genet., 23 (1): 20-1. [PMID:10471492]

3. Wang DW, Viswanathan PC, Balser JR, George AL, Benson DW. (2002) Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation, 105 (3): 341-6. [PMID:11804990]