Hypertaurinuric cardiomyopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 8 |
| OrphanetNr: | |
| OMIM Id: |
145350
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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: | 8 cases - PMID: 7003386 [IBIS] |
| Inheritance: |
Autosomal dominant - PMID: 7003386 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cardiomyopathy
-Rare cardiac disease |
Comment:
| The hypertaurinuria and depressed levels of taurine in the myocardium may be associated with one type of mitral-valve-prolapse syndrome and a rapidly progressive form of congestive cardiomyopathy (PMID:7003386) |
Symptom Information:
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(HPO:0003166) | Increased urinary taurine | 7003386 | IBIS | 5 / 7739 | ||
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(HPO:0010772) | Anomalous pulmonary venous return | 7003386 | IBIS | 11 / 7739 | ||
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(HPO:0005110) | Atrial fibrillation | 7003386 | IBIS | 71 / 7739 | ||
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(HPO:0001685) | Myocardial fibrosis | 7003386 | IBIS | 30 / 7739 | ||
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(HPO:0001644) | Dilated cardiomyopathy | 7003386 | IBIS | 141 / 7739 | ||
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(HPO:0001634) | Mitral valve prolapse | 7003386 | IBIS | 69 / 7739 | ||
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(OMIM) | Gallop rhythm | 7003386 | IBIS | 2 / 7739 | ||
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(OMIM) | Hypertaurinuria | 7003386 | IBIS | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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