Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
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Preferred Name

Familial isolated dilated cardiomyopathy
Synonyms

Familial or idiopathic dilated cardiomyopathy
Definitions

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.
ID

http://www.orpha.net/ORDO/Orphanet_154
alternative_term

Familial or idiopathic dilated cardiomyopathy
definition

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=154
has_age_of_onset

All ages
has_inheritance

Autosomal recessive

Mitochondrial inheritance

X-linked recessive

Autosomal dominant
hasDbXref

OMIM:615235

OMIM:615916

OMIM:613426

OMIM:613424

ICD-11:BC43.00

OMIM:613252

OMIM:608569

OMIM:609909

UMLS:C5679590

OMIM:611879

OMIM:611878

OMIM:612158

OMIM:115200

OMIM:601154

OMIM:612877

OMIM:619492

OMIM:611880

OMIM:618189

OMIM:611407

OMIM:604288

OMIM:302045

OMIM:609915

OMIM:604145

OMIM:613642

OMIM:607482

OMIM:614672

OMIM:613286

OMIM:613172

OMIM:601494

OMIM:601493

OMIM:600884

OMIM:615396

OMIM:615184

OMIM:613697

OMIM:613694

OMIM:615373

OMIM:605582

OMIM:613122

OMIM:620203

OMIM:606685

OMIM:604765

OMIM:619747

OMIM:611615

OMIM:619897

ICD-10:I42.0

OMIM:615248

OMIM:619371

OMIM:613881
label

Familial isolated dilated cardiomyopathy
notation

ORPHA:154
part_of

http://www.orpha.net/ORDO/Orphanet_506225

http://www.orpha.net/ORDO/Orphanet_207085

http://www.orpha.net/ORDO/Orphanet_217607
prefixIRI

ORDO:Orphanet_154
prefLabel

Familial isolated dilated cardiomyopathy
present_in

United States AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000

Europe AND has_annual_incidence_average_value : 2.91 AND has_annual_incidence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 17.5 AND has_point_prevalence_range : 1-5 / 10 000
treeView

http://www.orpha.net/ORDO/Orphanet_506225

http://www.orpha.net/ORDO/Orphanet_207085

http://www.orpha.net/ORDO/Orphanet_217607
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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