Cardiomyopathy, familial hypertrophic, 19
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMH19 |
| Number of Symptoms | 7 |
| OrphanetNr: | |
| OMIM Id: |
613875
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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: | 1 cases - PMID: 17655857 [IBIS] |
| Inheritance: |
Autosomal dominant Monogenic - PMID: 17655857 [IBIS] |
| Age of onset: |
Adult - PMID: 17655857 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial isolated hypertrophic cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Comment:
| Cardiomyopathy, familial hypertrophic, 19 is caused by mutations in CALR3 (PMID:17655857). |
Symptom Information:
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(HPO:0001639) | Hypertrophic cardiomyopathy | 17655857 | IBIS | 137 / 7739 | ||
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(HPO:0005135) | EKG: T-wave abnormalities | 17655857 | IBIS | 19 / 7739 | ||
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(HPO:0001712) | Left ventricular hypertrophy | 17655857 | IBIS | 76 / 7739 | ||
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(HPO:0003115) | Abnormal EKG | 17655857 | IBIS | 44 / 7739 | ||
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(HPO:0011103) | Abnormality of the left ventricular outflow tract | 17655857 | IBIS | 12 / 7739 | ||
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(HPO:0001670) | Asymmetric septal hypertrophy | 17655857 | IBIS | 19 / 7739 | ||
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(MedDRA:10065930) | Left ventricle outflow tract obstruction | 17655857 | IBIS | 3 / 7739 |
Associated genes:
| CALR3; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Molecular genetics OMIM |
Chiu et al. (2007) screened an Australian cohort of 252 unrelated patients with hypertrophic cardiomyopathy (CMH) for mutations in calcium regulatory genes and identified 2 patients with heterozygous missense mutations in the CALR3 gene. One was a 41-year-old ... |