ATRIAL FIBRILLATION, FAMILIAL, 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ATFB4 |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
611493
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
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(HPO:0005110) | Atrial fibrillation | 71 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
In a study of 28 unrelated Han Chinese families with atrial fibrillation, Yang et al. (2004) found an arginine-to-cysteine change at codon 27 (R27C; 603796.0004) of KCNE2 in 2 probands. The mutation was present in all affected members ... |