Cardiomyopathy, dilated, 1Y

General Information (adopted from Orphanet):

Synonyms, Signs: LVNC9, included
CMD1Y Left ventricular noncompaction 9, included
Number of Symptoms 8
OrphanetNr:
OMIM Id: 611878
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
11273725 [IBIS]
Age of onset: All ages
11273725 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1Y and Left ventricular noncompaction 9 are caesed by mutations in TPM1 (PMID:11273725, PMID:21551322).

Symptom Information: Sort by abundance 

1
 (HPO:0001631) Atria septal defect 21551322 IBIS 274 / 7739
2
 (HPO:0001644) Dilated cardiomyopathy 11273725 IBIS 141 / 7739
3
 (HPO:0004756) Ventricular tachycardia 11273725 IBIS 55 / 7739
4
 (HPO:0001962) Palpitations 11273725 IBIS 62 / 7739
5
 (HPO:0001635) Congestive heart failure 11273725 IBIS 232 / 7739
6
 (HPO:0011664) Left ventricular noncompaction cardiomyopathy 21551322 IBIS 10 / 7739
7
 (HPO:0000969) Edema 11273725 IBIS 117 / 7739
8
 (HPO:0002094) Dyspnea 11273725 IBIS 132 / 7739

Associated genes:

TPM1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
TPM1 rs104894501 pathogenic RCV000013275.16
TPM1 rs104894505 pathogenic RCV000013274.22
TPM1 rs199476310 likely pathogenic RCV000036322.2
TPM1 rs199476311 likely pathogenic RCV000036336.2
TPM1 rs199476317 pathogenic RCV000036354.2
TPM1 rs397516363 likely pathogenic RCV000036316.2
TPM1 rs397516364 likely pathogenic RCV000036318.2
TPM1 rs397516369 likely pathogenic RCV000036327.2
TPM1 rs397516370 likely pathogenic RCV000036328.2
TPM1 rs397516371 likely pathogenic RCV000036330.2
TPM1 rs397516373 likely pathogenic RCV000036335.2
TPM1 rs397516487 likely pathogenic RCV000036630.2
TPM1 rs727504389 likely pathogenic RCV000154548.1

Additional Information:

Clinical Description OMIM Olson et al. (2001) described 2 probands with familial dilated cardiomyopathy. One was a 27-year-old man whose father and paternal uncle died from heart failure at age 27 and 49 years, respectively. Because of suspected familial CMD, screening ...
Molecular genetics OMIM In affected individuals from 2 unrelated families with idiopathic dilated cardiomyopathy, Olson et al. (2001) identified heterozygosity for missense mutations in the TPM1 gene: E54K (191010.0004) and E40K (191010.0005).

- Left Ventricular Noncompaction 9

...