Details of Disease | DrugMAP

General Information of Disease (ID: DISOD6L1)

Disease Name	Dilated cardiomyopathy 1U
Synonyms	cardiomyopathy, dilated, 1U; PSEN1 familial isolated dilated cardiomyopathy; dilated cardiomyopathy type 1U; familial isolated dilated cardiomyopathy caused by mutation in PSEN1; CMD1U; cardiomyopathy, dilated, type 1U
Definition	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.
Disease Hierarchy	DISBHDU9: Familial dilated cardiomyopathy DISOD6L1: Dilated cardiomyopathy 1U
Disease Identifiers	MONDO ID MONDO_0013371 MESH ID C566296 UMLS CUI C3160720 OMIM ID 613694 MedGen ID 463620

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
PSEN1	TTZ3S8C	Limited	Autosomal dominant	[1]
PSEN1	TTZ3S8C	moderate	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSEN1	OTKL39RT	Limited	Autosomal dominant	[1]
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References

1	Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. doi: 10.1086/509900. Epub 2006 Oct 24.
2	Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of A42 and A40 peptides by -secretase.Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):E476-E485. doi: 10.1073/pnas.1618657114. Epub 2016 Dec 5.