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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/113900
http://purl.bioontology.org/ontology/OMIM/113900
|
|---|---|
| Preferred Name | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA |
| Synonyms |
HEREDITARY BUNDLE BRANCH SYSTEM DEFECT
HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I
HEART BLOCK, NONPROGRESSIVE
CARDIAC CONDUCTION DEFECT, PROGRESSIVE
HBBD
PFHB1A
PFHBI
BUNDLE BRANCH BLOCK
PCCD
PFHBIA
CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
LENEGRE-LEV DISEASE
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HEREDITARY BUNDLE BRANCH SYSTEM DEFECT
HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I
HEART BLOCK, NONPROGRESSIVE
CARDIAC CONDUCTION DEFECT, PROGRESSIVE
HBBD
PFHB1A
PFHBI
BUNDLE BRANCH BLOCK
PCCD
PFHBIA
CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
LENEGRE-LEV DISEASE
See more
See less
|
|---|---|
| prefLabel |
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
|
| Gene Symbol |
SCN5A
CDCD2
VF1
CMD1E
LQT3
SSS1
HB1
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|
| notation |
113900
|
| Scope Statement |
Stokes-Adams attacks [MISCELLANEOUS]
Genetic heterogeneity (see 604559) [MISCELLANEOUS]
Syncopal episodes [MISCELLANEOUS]
Sudden death [MISCELLANEOUS]
Caused by mutations in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, 600163.0009) [MOLECULAR BASIS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| Moved from |
211550
|
| type | |
| Has manifestation | |
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
3p22.2
|
| tui |
T047
|
| cui |
C1879286
C1861984
C1861983
|
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