loading...| Preferred Name |
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA |
| Synonyms |
HEART BLOCK, NONPROGRESSIVE |
| ID |
http://purl.bioontology.org/ontology/OMIM/113900 |
| altLabel |
HEART BLOCK, NONPROGRESSIVE HEREDITARY BUNDLE BRANCH SYSTEM DEFECT BUNDLE BRANCH BLOCK CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE HBBD PFHB1A PFHBI LENEGRE-LEV DISEASE PCCD PFHBIA HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I CARDIAC CONDUCTION DEFECT, PROGRESSIVE |
| cui |
C1879286 C1861983 C1861984 |
| Gene Locus |
3p22.2 |
| Gene Symbol |
CDCD2 CMD1E SCN5A HB1 SSS1 LQT3 VF1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036516 http://purl.bioontology.org/ontology/OMIM/MTHU019189 http://purl.bioontology.org/ontology/OMIM/MTHU019187 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
211550 |
| notation |
113900 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA |
| Scope Statement |
Sudden death [MISCELLANEOUS] Stokes-Adams attacks [MISCELLANEOUS] Caused by mutations in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, 600163.0009) [MOLECULAR BASIS] Genetic heterogeneity (see 604559) [MISCELLANEOUS] Syncopal episodes [MISCELLANEOUS] |
| tui |
T047 |