Cardiomyopathy, dilated, 1JJ
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMD1JJ |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
615235
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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: | No data available. |
| Inheritance: |
Autosomal dominant Monogenic 17646580 [IBIS] |
| Age of onset: |
Adult 17646580 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial isolated dilated cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Comment:
| Cardiomyopathy, dilated, 1JJ is caused by mutations in LAMA4. The significant loss of endothelial cells was found in myocardial biopsies from the 2 men with LAMA4-p.P943L mutation (PMID:17646580). |
Symptom Information:
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(HPO:0004306) | Abnormality of the endocardium | 17646580 | IBIS | 24 / 7739 | ||
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(HPO:0001644) | Dilated cardiomyopathy | 17646580 | IBIS | 141 / 7739 | ||
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(HPO:0012666) | Severely reduced ejection fraction | 17646580 | IBIS | 9 / 7739 | ||
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(OMIM) | Cardiomyopathy, dilated, severe | 17646580 | IBIS | 1 / 7739 | ||
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(OMIM) | Loss of endothelial cells seen on myocardial biopsy | 17646580 | IBIS | 1 / 7739 | ||
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(OMIM) | Markedly decreased ejection fraction | 17646580 | IBIS | 1 / 7739 |
Associated genes:
| LAMA4; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| LAMA4 | rs372615994 | pathogenic | RCV000043518.5 |
| LAMA4 | rs387907365 | pathogenic | RCV000043519.3 |
Additional Information:
| Molecular genetics OMIM |
Knoll et al. (2007) sequenced the LAMA4 gene in 180 Caucasian patients with severe dilated cardiomyopathy (CMD) and identified heterozygosity for a nonsense (R1073X; 600133.0001) and a missense (P943L; 600133.0002) mutation in 2 patients, respectively. Genotyping for these ... |