Cardiomyopathy, fatal fetal, due to myocardial calcification
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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3
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OrphanetNr:
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OMIM Id:
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300829
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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:
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Prevalence:
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3
cases
- PMID: 11424141 [IBIS]
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Inheritance:
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Age of onset:
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Antenatal
- PMID: 11424141 [IBIS]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Cardiomyopathy
-Rare cardiac disease
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Comment:
| Three male sib fetuses had myocardial calcifications and cardiomyopathy resulting in intrauterine fetal death as early as the second trimester.
No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found.
There were no signs of infammation or a metabolic disorder, and the mother had no prenatal exposure of teratogenic drugs (PMID:11424141). |
ClinVar (via SNiPA)
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Variation |
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