PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB

General Information (adopted from Orphanet):

Synonyms, Signs: PFHBIB
PFHB1B
Number of Symptoms 13
OrphanetNr:
OMIM Id: 604559
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001662) Bradycardia 41 / 7739
2
(HPO:0001657) Prolonged QT interval 33 / 7739
3
(HPO:0011675) Arrhythmia 226 / 7739
4
(HPO:0001279) Syncope 94 / 7739
5
(HPO:0011711) Left anterior fascicular block 7 / 7739
6
(HPO:0005165) Shortened PR interval 9 / 7739
7
(MedDRA:10057393) Bifascicular block 4 / 7739
8
(OMIM) Atrioventricular block, incomplete or complete 1 / 7739
9
(OMIM) Left axis deviation 7 / 7739
10
(OMIM) Right bundle branch block, incomplete or complete 1 / 7739
11
(OMIM) Right axis deviation 6 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Short PR interval 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brink and Torrington (1977) reported a 6-generation South African family of Portuguese and French ancestry with 261 known relatives, in which conduction defects segregated in an autosomal dominant pattern. Of 55 members in the last 3 generations who ...
Molecular genetics OMIM Kruse et al. (2009) analyzed the candidate gene TRPM4 in the Afrikaner kindred with progressive heart block originally reported by Brink and Torrington (1977) and identified a heterozygous missense mutation (E7K; 606936.0001) that segregated with the disease. Of ...