Cardiomyopathy, dilated, 1P

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1P
Number of Symptoms 12
OrphanetNr:
OMIM Id: 609909
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
[IBIS] 12610310
Age of onset: Adult
12610310 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, dilated, 1P is caused by mutation in PLN (PMID: 12610310).

Symptom Information: Sort by abundance 

1
(HPO:0004308) Ventricular arrhythmia 16432188 IBIS 46 / 7739
2
(HPO:0001712) Left ventricular hypertrophy 12639993 IBIS 76 / 7739
3
(HPO:0001663) Ventricular fibrillation 16432188 IBIS 35 / 7739
4
(HPO:0004756) Ventricular tachycardia 16432188 IBIS 55 / 7739
5
(HPO:0001644) Dilated cardiomyopathy 12610310 IBIS 141 / 7739
6
(HPO:0001635) Congestive heart failure 12610310 IBIS 232 / 7739
7
(HPO:0006682) Ventricular extrasystoles 16432188 IBIS 25 / 7739
8
(MedDRA:10071436) Systolic dysfunction 16432188 IBIS 13 / 7739
9
(OMIM) Myofibrillar disorganization 12639993 IBIS 2 / 7739
10
(OMIM) Enlarged myocytes without myofiber disarray 12610310 IBIS 2 / 7739
11
(OMIM) Interstitial fibrosis 12610310 IBIS 24 / 7739
12
(MedDRA:10051158) Electrocardiogram QRS complex shortened 16432188 IBIS 2 / 7739

Associated genes:

PLN;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
PLN rs111033559 pathogenic RCV000014606.25
PLN rs111033560 pathogenic RCV000014607.25
PLN rs397516784 pathogenic RCV000037582.2

Additional Information:

Clinical Description OMIM Schmitt et al. (2003) reported a 4-generation family with dilated cardiomyopathy (CMD) and heart failure inherited in an autosomal dominant fashion. Affected individuals had increased chamber dimensions and decreased contractile function at age 20 to 30 years, with ...
Molecular genetics OMIM Schmitt et al. (2003) sequenced the PLN gene in 20 unrelated individuals with inherited dilated cardiomyopathy and heart failure. In 1 individual, a heterozygous arg9-to-cys substitution (R9C; 172405.0001) was identified and segregated with disease over 4 generations of ...