PFHB2
MCID: PRG101
MIFTS: 28

Progressive Familial Heart Block, Type Ii (PFHB2)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Progressive Familial Heart Block, Type Ii

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

Name: Progressive Familial Heart Block, Type Ii 57 70
Pfhb2 57 12 20
Progressive Familial Heart Block Type Ii 12 15
Pfhbii 57 20
Progressive Familial Heart Block Type 2 20
Heart Block Progressive Familial Type 2 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
syncope
sudden death
stokes-adams attacks

Inheritance:
autosomal dominant


HPO:

31
progressive familial heart block, type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111075
OMIM® 57 140400
OMIM Phenotypic Series 57 PS113900
MedGen 41 C1841658
UMLS 70 C1841658

Summaries for Progressive Familial Heart Block, Type Ii

OMIM® : 57 Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see 113900). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes (Brink and Torrington, 1977). (140400) (Updated 05-Apr-2021)

MalaCards based summary : Progressive Familial Heart Block, Type Ii, also known as pfhb2, is related to cardiomyopathy, dilated, 1d and progressive familial heart block, and has symptoms including syncope An important gene associated with Progressive Familial Heart Block, Type Ii is PFHB2 (Progressive Familial Heart Block, Type II), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and RAB geranylgeranylation. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and syncope

Disease Ontology : 12 A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has material basis in variation in the chromosome region 1q32.

Related Diseases for Progressive Familial Heart Block, Type Ii

Diseases in the Heart Block, Congenital family:

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

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

# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1d 30.1 TNNT2 LPGAT1
2 progressive familial heart block 28.2 TNNT2 SMG7 RAB4B RAB1B PFHB2 LPGAT1
3 progressive familial heart block, type ia 11.3
4 dilated cardiomyopathy 10.3
5 atrioventricular block 10.1
6 cardiomyopathy, familial hypertrophic, 1 9.3 TNNT2 RHOQ RHOG

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



Diseases related to Progressive Familial Heart Block, Type Ii

Symptoms & Phenotypes for Progressive Familial Heart Block, Type Ii

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

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 syncope 31 HP:0001279
3 sudden death 31 HP:0001699
4 sinus bradycardia 31 HP:0001688
5 complete heart block with narrow qrs complexes 31 HP:0005178

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
atrioventricular block
sinus bradycardia
complete heart block with narrow qrs complexes
atrioventricular nodal disease
idionodal escape rhythm

Clinical features from OMIM®:

140400 (Updated 05-Apr-2021)

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


syncope

Drugs & Therapeutics for Progressive Familial Heart Block, Type Ii

Search Clinical Trials , NIH Clinical Center for Progressive Familial Heart Block, Type Ii

Genetic Tests for Progressive Familial Heart Block, Type Ii

Anatomical Context for Progressive Familial Heart Block, Type Ii

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

40
Heart

Publications for Progressive Familial Heart Block, Type Ii

Articles related to Progressive Familial Heart Block, Type Ii:

# Title Authors PMID Year
1
A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3. 61 57
16086176 2005
2
Gene for progressive familial heart block type I maps to chromosome 19q13. 57
7882468 1995
3
Progressive familial heart block--two types. 57
897853 1977
4
Familial heart block and sinus bradycardia. Classification and natural history. 57
5016825 1972
5
YopT domain of the PfhB2 toxin from Pasteurella multocida: protein expression, characterization, crystallization and crystallographic analysis. 61
29497015 2018
6
High and low-virulent bovine Pasteurella multocida capsular type A isolates exhibit different virulence gene expression patterns in vitro and in vivo. 61
27939154 2016
7
The RNA-Binding Chaperone Hfq Is an Important Global Regulator of Gene Expression in Pasteurella multocida and Plays a Crucial Role in Production of a Number of Virulence Factors, Including Hyaluronic Acid Capsule. 61
26883595 2016
8
Comparative analysis of Histophilus somni immunoglobulin-binding protein A (IbpA) with other fic domain-containing enzymes reveals differences in substrate and nucleotide specificities. 61
21795713 2011
9
Progressive familial heart block type II (PFHBII): a clinical profile from 1977 to 2003. 61
15258623 2004

Variations for Progressive Familial Heart Block, Type Ii

Expression for Progressive Familial Heart Block, Type Ii

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

Pathways for Progressive Familial Heart Block, Type Ii

Pathways related to Progressive Familial Heart Block, Type Ii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.71 RHOQ RHOG RAB4B RAB1B
2 10.77 RAB4B RAB1B

GO Terms for Progressive Familial Heart Block, Type Ii

Cellular components related to Progressive Familial Heart Block, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 RHOG RAB1B LPGAT1 FICD
2 secretory granule membrane GO:0030667 9.16 RHOG RAB4B
3 endomembrane system GO:0012505 8.8 RAB4B RAB1B LPGAT1

Biological processes related to Progressive Familial Heart Block, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of actin cytoskeleton organization GO:0032956 8.96 RHOQ RHOG
2 cell projection assembly GO:0030031 8.62 RHOQ RHOG

Molecular functions related to Progressive Familial Heart Block, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.63 RHOQ RHOG RAB4B RAB1B FICD ATP8B1
2 GTP binding GO:0005525 9.26 RHOQ RHOG RAB4B RAB1B
3 GTPase activity GO:0003924 8.92 RHOQ RHOG RAB4B RAB1B

Sources for Progressive Familial Heart Block, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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