Details of Disease

General Information of Disease (ID: DISIWEP5)

Disease Name Dilated cardiomyopathy 1P
Synonyms
familial isolated dilated cardiomyopathy caused by mutation in PLN; cardiomyopathy, dilated, 1P; cardiomyopathy, dilated, type 1P; PLN familial isolated dilated cardiomyopathy; CMD1P; dilated cardiomyopathy type 1P
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISIWEP5: Dilated cardiomyopathy 1P
Disease Identifiers
MONDO ID
MONDO_0012362
UMLS CUI
C1835928
OMIM ID
609909
MedGen ID
322782

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
PLN TTMCVJF Strong Biomarker [1]
PLN TTMCVJF Definitive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CEP85L OTSHJFOT Strong CausalMutation [3]
PLN OTT3RRJN Definitive Autosomal dominant [2]
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References

1 Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.
2 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1388-93. doi: 10.1073/pnas.0510519103. Epub 2006 Jan 23.
3 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.