MCID: PRG043
MIFTS: 32

Progressive Familial Heart Block, Type Ib

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Progressive Familial Heart Block, Type Ib

MalaCards integrated aliases for Progressive Familial Heart Block, Type Ib:

Name: Progressive Familial Heart Block, Type Ib 54 24 13 69
Pfhb1b 12 50 24 71
Progressive Familial Heart Block Type Ib 12 71
Progressive Familial Heart Block Type 1b 50 29
Heart Block Progressive Familial Type 1b 50
Progressive Familial Heart Block 1b 71
Right Bundle Branch Block 69
Right-Bundle Branch Block 71
Cardiac Conduction Block 71
Heart Block 69
Pfhbib 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
patients often require implantation of a pacemaker
conduction defect is progressive


HPO:

32
progressive familial heart block, type ib:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Progressive Familial Heart Block, Type Ib

UniProtKB/Swiss-Prot : 71 Progressive familial heart block 1B: A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.

MalaCards based summary : Progressive Familial Heart Block, Type Ib, also known as pfhb1b, is related to right bundle branch block and brugada syndrome, and has symptoms including syncope, bradycardia and prolonged qt interval. An important gene associated with Progressive Familial Heart Block, Type Ib is TRPM4 (Transient Receptor Potential Cation Channel Subfamily M Member 4). Affiliated tissues include heart.

Disease Ontology : 12 A progressive familial heart block characterized by that has material basis in heterozygous mutation in the TRPM4 gene on chromosome 19q13.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on familial progressive cardiac conduction defect.

Description from OMIM: 604559

Related Diseases for Progressive Familial Heart Block, Type Ib

Diseases in the Heart Block, Congenital family:

Progressive Familial Heart Block, Type Ii Heart Block, Progressive, Type Ia
Progressive Familial Heart Block, Type Ib Progressive Familial Heart Block

Diseases related to Progressive Familial Heart Block, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
id Related Disease Score Top Affiliating Genes
1 right bundle branch block 12.8
2 brugada syndrome 11.7
3 heart block, progressive, type ia 11.4
4 brugada syndrome 4 11.2
5 brugada syndrome 6 11.2
6 brugada syndrome 7 11.2
7 brugada syndrome 3 11.2
8 brugada syndrome 8 11.2
9 brugada syndrome 5 11.2
10 brugada syndrome 9 11.2
11 brugada syndrome 2 11.2
12 brugada syndrome 1 11.2
13 ventricular fibrillation, familial, 1 11.2
14 kearns-sayre syndrome 10.9
15 myopathy, myofibrillar, 1 10.9
16 myocardial infarction 10.8
17 acute myocardial infarction 10.6
18 tetralogy of fallot 10.5
19 cardiomyopathy 10.4
20 ventricular septal defect 10.4
21 pulmonary embolism 10.3
22 atrial fibrillation 10.3
23 arrhythmogenic right ventricular cardiomyopathy 10.3
24 atrioventricular block 10.3
25 heart disease 10.3
26 sudden cardiac death 10.3
27 aneurysm 10.3
28 artery disease 10.2
29 wolff-parkinson-white syndrome 10.2
30 inferior myocardial infarction 10.1
31 anteroseptal myocardial infarction 10.1
32 congestive heart failure 10.1
33 coronary artery disease 10.1
34 second-degree atrioventricular block 10.1
35 atrial septal aneurysm 10.1
36 chagas disease 10.1
37 muscular dystrophy 9.8
38 limb-girdle muscular dystrophy 9.8
39 autosomal dominant limb-girdle muscular dystrophy 9.8

Graphical network of the top 20 diseases related to Progressive Familial Heart Block, Type Ib:



Diseases related to Progressive Familial Heart Block, Type Ib

Symptoms & Phenotypes for Progressive Familial Heart Block, Type Ib

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
cardiac conduction defects
bradycardia
syncope
left axis deviation
right axis deviation
more

Clinical features from OMIM:

604559

Human phenotypes related to Progressive Familial Heart Block, Type Ib:

32
id Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 bradycardia 32 HP:0001662
3 prolonged qt interval 32 HP:0001657
4 shortened pr interval 32 HP:0005165
5 left anterior fascicular block 32 HP:0011711

UMLS symptoms related to Progressive Familial Heart Block, Type Ib:


syncope

Drugs & Therapeutics for Progressive Familial Heart Block, Type Ib

Genetic Tests for Progressive Familial Heart Block, Type Ib

Genetic tests related to Progressive Familial Heart Block, Type Ib:

id Genetic test Affiliating Genes
1 Progressive Familial Heart Block Type 1b 29
2 Progressive Familial Heart Block, Type Ib 24 TRPM4

Anatomical Context for Progressive Familial Heart Block, Type Ib

MalaCards organs/tissues related to Progressive Familial Heart Block, Type Ib:

39
Heart

Publications for Progressive Familial Heart Block, Type Ib

Variations for Progressive Familial Heart Block, Type Ib

UniProtKB/Swiss-Prot genetic disease variations for Progressive Familial Heart Block, Type Ib:

71
id Symbol AA change Variation ID SNP ID
1 TRPM4 p.Glu7Lys VAR_064042 rs267607142
2 TRPM4 p.Gln131His VAR_066763 rs172146854
3 TRPM4 p.Arg164Trp VAR_066764 rs387907216
4 TRPM4 p.Gln293Arg VAR_066766 rs172147855
5 TRPM4 p.Ala432Thr VAR_066767 rs201907325
6 TRPM4 p.Gly582Ser VAR_066770 rs172149856
7 TRPM4 p.Tyr790His VAR_066771 rs172150857
8 TRPM4 p.Gly844Asp VAR_066772 rs200038418
9 TRPM4 p.Lys914Arg VAR_066774 rs172151858
10 TRPM4 p.Pro970Ser VAR_066775 rs172152859

ClinVar genetic disease variations for Progressive Familial Heart Block, Type Ib:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPM4 NM_017636.3(TRPM4): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs267607142 GRCh37 Chromosome 19, 49661142: 49661142
2 TRPM4 NM_017636.3(TRPM4): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs387907216 GRCh37 Chromosome 19, 49671558: 49671558
3 TRPM4 NM_017636.3(TRPM4): c.2741A> G (p.Lys914Arg) single nucleotide variant Pathogenic rs172151858 GRCh37 Chromosome 19, 49703652: 49703652

Expression for Progressive Familial Heart Block, Type Ib

Search GEO for disease gene expression data for Progressive Familial Heart Block, Type Ib.

Pathways for Progressive Familial Heart Block, Type Ib

GO Terms for Progressive Familial Heart Block, Type Ib

Sources for Progressive Familial Heart Block, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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