loading...| Preferred Name | CARDIOMYOPATHY, DILATED, 1E | |
| Synonyms |
CMD1E CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA CDCD2 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/601154 |
|
| altLabel |
CMD1E CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA CDCD2 |
|
| cui |
C1832680 |
|
| Gene Locus |
3p22.2 |
|
| Gene Symbol |
SCN5A CDCD2 VF1 CMD1E LQT3 SSS1 HB1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006249 http://purl.bioontology.org/ontology/OMIM/MTHU038506 http://purl.bioontology.org/ontology/OMIM/MTHU042669 http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU033166 http://purl.bioontology.org/ontology/OMIM/MTHU038505 http://purl.bioontology.org/ontology/OMIM/MTHU007163 http://purl.bioontology.org/ontology/OMIM/MTHU005271 http://purl.bioontology.org/ontology/OMIM/MTHU022492 http://purl.bioontology.org/ontology/OMIM/MTHU038503 http://purl.bioontology.org/ontology/OMIM/MTHU068268 http://purl.bioontology.org/ontology/OMIM/MTHU038499 http://purl.bioontology.org/ontology/OMIM/MTHU038501 http://purl.bioontology.org/ontology/OMIM/MTHU038502 http://purl.bioontology.org/ontology/OMIM/MTHU005009 http://purl.bioontology.org/ontology/OMIM/MTHU038504 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
601154 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CARDIOMYOPATHY, DILATED, 1E |
|
| Scope Statement |
Patients may require implantable cardioverter defibrillators [MISCELLANEOUS] May result in sudden death [MISCELLANEOUS] Caused by mutation in the alpha subunit of the type V voltage-gated sodium channel gene (SCN5A, 600163.0034) [MOLECULAR BASIS] |
|
| tui |
T047 |