PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

General Information (adopted from Orphanet):

Synonyms, Signs: PFHBIA
PFHB1A
CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED
HEREDITARY BUNDLE BRANCH SYSTEM DEFECT
HBBD HEART BLOCK, NONPROGRESSIVE, INCLUDED
BUNDLE BRANCH BLOCK
CARDIAC CONDUCTION DEFECT, PROGRESSIVE
HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I
LENEGRE-LEV DISEASE
PFHBI
PCCD
Number of Symptoms 5
OrphanetNr:
OMIM Id: 113900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005170) Complete heart block with broad RS complexes 2 / 7739
2
(HPO:0011712) Right bundle branch block 34 / 7739
3
(HPO:0002094) Dyspnea 132 / 7739
4
(OMIM) Left anterior or posterior hemiblock 1 / 7739
5
(OMIM) Bundle branch disease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block (Brink and Torrington, 1977; van der Merwe et al., 1986; van der Merwe et al., ...
Clinical Description OMIM Progressive cardiac conduction defect (PCCD), also called Lenegre-Lev disease (Lenegre, 1964; Lev et al., 1970), is one of the most common cardiac conduction disturbances. It is characterized by progressive alteration of cardiac conduction through the His-Purkinje system with ...
Molecular genetics OMIM In a French family with Lenegre-Lev disease, Schott et al. (1999) excluded linkage to the cardiac conduction defect locus on chromosome 19 and to other loci for inherited cardiac diseases associated with conduction defects. Because of the potential ...