restrictive cardiomyopathy

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Information
Disease name
restrictive cardiomyopathy
Disease ID
DOID:397
Description
"An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8995091]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
TTN 2 178,525,989 178,807,423 4
MYH6 14 23,381,987 23,408,273 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01873963 Completed Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES) April 2013 March 31, 2018
NCT04712136 Completed N/A Healthy-related Quality of Life and Physical Activity of Children With Cardiac Malformations February 1, 2021 June 20, 2023
NCT03527342 Enrolling by invitation Sahlgrenska Cardiomyopathy Project June 1, 2018 January 2029
NCT03479580 Recruiting Coronary Artery Disease and Coronary Microvascular Disease in Cardiomyopathies Registry February 8, 2018 February 2028
NCT02432092 Recruiting Pediatric Cardiomyopathy Mutation Analysis April 2014 December 31, 2030
NCT03076580 Unknown status An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China July 1, 2015 December 31, 2021
NCT03061994 Unknown status Metabolomic Study of All-age Cardiomyopathy October 2016 October 2020
NCT03572569 Unknown status Risk Stratification in Children and Adolescents With Primary Cardiomyopathy January 2013 December 2020
NCT00703443 Withdrawn The Genetics of Cardiomyopathy and Heart Failure April 2007 April 2007
Disase is a (Disease Ontology)
DOID:0060036
Cross Reference ID (Disease Ontology)
ICD10CM:I42.5
Cross Reference ID (Disease Ontology)
MESH:D002313
Cross Reference ID (Disease Ontology)
MIM:115210
Cross Reference ID (Disease Ontology)
MIM:PS115210
Cross Reference ID (Disease Ontology)
NCI:C62798
Cross Reference ID (Disease Ontology)
ORDO:75249
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:389996009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0007196
Exact Synonym (Disease Ontology)
Cardiomyopathy, constrictive
Exact Synonym (Disease Ontology)
primary restrictive cardiomyopathy
Disase Synonym (Disease Ontology)
Familial restrictive cardiomyopathy
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0001723