Details of Disease

General Information of Disease (ID: DISF3V8H)

Disease Name Progressive familial heart block type IB
Synonyms
heart block progressive familial type 1B; progressive familial heart block, type IB; progressive familial heart block, type 1B; progressive familial heart block type 1B; Pfhbib; TRPM4 progressive familial heart block; progressive familial heart block caused by mutation in TRPM4; PFHB1B
Definition Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.
Disease Hierarchy
DISNEF3B: Progressive familial heart block
DISF3V8H: Progressive familial heart block type IB
Disease Identifiers
MONDO ID
MONDO_0011474
MESH ID
C567037
UMLS CUI
C1970298
OMIM ID
604559
MedGen ID
370220
SNOMED CT ID
698250005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TRPM4 TTJ2HKA moderate Biomarker [1]
TRPM4 TTJ2HKA Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRPM4 OT354X8E Strong Autosomal dominant [2]
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References

1 Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block.Cell Rep. 2018 Jul 17;24(3):724-731. doi: 10.1016/j.celrep.2018.06.034.
2 Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. J Clin Invest. 2009 Sep;119(9):2737-44. doi: 10.1172/JCI38292. Epub 2009 Aug 24.