Cardiomyopathy, dilated, 1FF
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMD1FF |
| Number of Symptoms | 12 |
| OrphanetNr: | |
| OMIM Id: |
613286
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| ICD-10: |
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| 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: | 2 cases - PMID: 19590045 [IBIS] |
| Inheritance: |
Autosomal dominant Monogenic - PMID: 19590045 [IBIS] |
| Age of onset: |
Adolescent Adult - PMID: 19590045 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial isolated dilated cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Comment:
| Cardiomyopathy, dilated, FF is caused by mutations in TNNI3 (PMID:19590045). |
Symptom Information:
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(HPO:0001635) | Congestive heart failure | 19590045 | IBIS | 232 / 7739 | ||
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(HPO:0001706) | Endocardial fibroelastosis | 19590045 | IBIS | 20 / 7739 | ||
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(HPO:0006673) | Reduced systolic function | 19590045 | IBIS | 11 / 7739 | ||
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(HPO:0001644) | Dilated cardiomyopathy | 19590045 | IBIS | 141 / 7739 | ||
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(HPO:0012664) | Reduced ejection fraction | 19590045 | IBIS | 32 / 7739 | ||
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(HPO:0006670) | Impaired myocardial contractility | 19590045 | IBIS | 9 / 7739 | ||
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(HPO:0001685) | Myocardial fibrosis | 19590045 | IBIS | 30 / 7739 | ||
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(HPO:0004306) | Abnormality of the endocardium | 19590045 | IBIS | 24 / 7739 | ||
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(HPO:0011273) | Anisocytosis | 19590045 | IBIS | 8 / 7739 | ||
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(OMIM) | Globular shaped heart on x-ray | 19590045 | IBIS | 2 / 7739 | ||
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(OMIM) | Left ventricular dilatation (1 patient) | 19590045 | IBIS | 5 / 7739 | ||
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(OMIM) | Biventricular dilation (in some patients) | 19590045 | IBIS | 3 / 7739 |
Associated genes:
| TNNI3; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| TNNI3 | rs267607129 | pathogenic | RCV000013244.22 |
| TNNI3 | rs267607130 | pathogenic | RCV000013243.24 |
| TNNI3 | rs397516352 | likely pathogenic | RCV000036298.2 |
| TNNI3 | rs397516355 | pathogenic | RCV000036303.2 |
| TNNI3 | rs397516356 | likely pathogenic | RCV000036305.2 |
| TNNI3 | rs397516359 | likely pathogenic | RCV000036309.2 |
Additional Information:
| Molecular genetics OMIM |
Carballo et al. (2009) analyzed the TNNI3 gene in 96 probands with dilated cardiomyopathy (CMD) in whom screening for mutations in 6 more commonly implicated CMD genes was negative and identified heterozygosity for 2 different TNNI3 missense mutations ... |