Familial isolated restrictive cardiomyopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial or idiopathic restrictive cardiomyopathy |
| Number of Symptoms | 23 |
| OrphanetNr: | 75249 |
| OMIM Id: |
115210
609578 612422 615248 |
| ICD-10: |
I42.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 9 of 100 000 |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial restrictive cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Comment:
| This term does not characterize a disease but a group of diseases. |
Symptom Information:
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(HPO:0012378) | Fatigue | 19889655 | IBIS | 50 / 7739 | ||
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(HPO:0001541) | Ascites | 19889655 | IBIS | 94 / 7739 | ||
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(HPO:0002240) | Hepatomegaly | 19889655 | IBIS | 467 / 7739 | ||
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(HPO:0001508) | Failure to thrive | 19889655 | IBIS | 454 / 7739 | ||
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(HPO:0006683) | Abnormal ventricular filling | 19889655 | IBIS | 5 / 7739 | ||
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(HPO:0001711) | Abnormality of the left ventricle | 2977941 | IBIS | 22 / 7739 | ||
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(HPO:0005110) | Atrial fibrillation | 19889655 | IBIS | 71 / 7739 | ||
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(HPO:0005180) | Tricuspid regurgitation | 19889655 | IBIS | 20 / 7739 | ||
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(HPO:0005317) | Increased pulmonary vascular resistance | 19889655 | IBIS | 7 / 7739 | ||
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(HPO:0001962) | Palpitations | 19889655 | IBIS | 62 / 7739 | ||
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(HPO:0012398) | Peripheral edema | 19889655 | IBIS | 12 / 7739 | ||
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(HPO:0002789) | Tachypnea | 19889655 | IBIS | 48 / 7739 | ||
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(HPO:0002094) | Dyspnea | 19889655 | IBIS | 132 / 7739 | ||
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(MedDRA:10047240) | Venous pressure jugular increased | 19889655 | IBIS | 6 / 7739 | ||
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(HPO:0030148) | Heart murmur | 19889655 | IBIS | 29 / 7739 | ||
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(MedDRA:10015645) | Exercise electrocardiogram abnormal | 19889655 | IBIS | 1 / 7739 | ||
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(MedDRA:10019311) | Heart sounds abnormal | 19889655 | IBIS | 4 / 7739 | ||
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(HPO:0001699) | Sudden death | 19889655 | IBIS | 34 / 7739 | ||
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(OMIM) | Dizziness may occur | 19889655 | IBIS | 2 / 7739 | ||
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(MedDRA:10008500) | Chest X-ray normal | 19889655 | IBIS | 1 / 7739 | ||
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(MedDRA:10057457) | Haemodynamic test abnormal | 19889655 | IBIS | 1 / 7739 | ||
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(MedDRA:10011975) | Decreased physical activity levels | 19889655 | IBIS | 1 / 7739 | ||
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(MedDRA:10067286) | Left atrial dilatation | 19889655 | IBIS | 10 / 7739 |
Associated genes:
| TNNI3; TNNT2; MYPN; MYBPC3; TTN; TPM1; MYL3; MYL2; MYH7; ACTC1; DES; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| MT-RNR1 | rs267606617 | pathogenic | RCV000010256.5 |
| MYH7 | rs397516142 | likely pathogenic | RCV000157359.1 |
| MYH7 | rs397516153 | pathogenic | RCV000035799.3 |
| MYH7 | rs727503260 | likely pathogenic | RCV000151276.1 |
| MYH7 | rs730880154 | likely pathogenic | RCV000157347.1 |
| MYPN | rs140148105 | pathogenic | RCV000043546.2 |
| MYPN | rs199476408 | pathogenic | RCV000043547.2 |
| MYPN | rs71534278 | pathogenic | RCV000043541.2 |
| MYPN | rs71534280 | pathogenic | RCV000043543.2 |
| MYPN | rs71584501 | pathogenic | RCV000043540.2 |
| TNNI3 | rs104894724 | pathogenic | RCV000013239.22 |
| TNNI3 | rs104894728 | pathogenic | RCV000013236.22 |
| TNNI3 | rs104894729 | pathogenic | RCV000013237.22 |
| TNNI3 | rs104894730 | pathogenic | RCV000013238.23 |
| TNNI3 | rs121917760 | pathogenic | RCV000013241.22 |
| TNNI3 | rs121917761 | pathogenic | RCV000013242.16 |
| TNNI3 | rs727503504 | likely pathogenic | RCV000157530.1 |
| TNNI3 | rs730880231 | pathogenic | RCV000157531.1 |
| TNNT2 | rs121964855 | pathogenic | RCV000013219.23 |
| TNNT2 | rs727503513 | likely pathogenic | RCV000152104.1 |