PFHB2
MCID: PRG101
MIFTS: 34

Progressive Familial Heart Block, Type Ii (PFHB2)

Categories: Cardiovascular diseases, Genetic diseases, Rare 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 73
Pfhb2 57 12 53
Progressive Familial Heart Block Type Ii 12 15
Pfhbii 57 53
Progressive Familial Heart Block Type 2 53
Heart Block Progressive Familial Type 2 53

Characteristics:

OMIM:

57
Miscellaneous:
sudden death
syncope
stokes-adams attacks

Inheritance:
autosomal dominant


HPO:

32
progressive familial heart block, type ii:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 140400
Disease Ontology 12 DOID:0111075
MedGen 42 C1841658
UMLS 73 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)

MalaCards based summary : Progressive Familial Heart Block, Type Ii, also known as pfhb2, is related to progressive familial heart block, type ia and atrial standstill 1, 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 G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins and Osteopontin-mediated events. 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 progressive familial heart block, type ia 11.3
2 atrial standstill 1 10.1
3 progressive familial heart block 10.1
4 acute contagious conjunctivitis 9.9 KCNH1 CCL7
5 cardiomyopathy, dilated, 1d 9.4 TNNT2 PPP2R5A LPGAT1 LAMB3 KCNH1 HMOX2

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrioventricular block
sinus bradycardia
atrioventricular nodal disease
idionodal escape rhythm
complete heart block with narrow qrs complexes


Clinical features from OMIM:

140400

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

32
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 syncope 32 HP:0001279
3 sinus bradycardia 32 HP:0001688
4 complete heart block with narrow qrs complexes 32 HP:0005178

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


syncope

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

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 PPP2R5A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.85 PPP2R5A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.85 LAMB3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.85 RHOA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.85 LAMB3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.85 PPP2R5A RHOA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.85 LAMB3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.85 HMOX2 LAMB3 PPP2R5A RHOA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.85 HMOX2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.85 LAMB3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.85 HMOX2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.85 RHOA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.85 LAMB3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.85 HMOX2 PPP2R5A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.85 RHOA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.85 PPP2R5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.85 RHOA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.85 RHOA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.85 LAMB3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.85 RHOA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.85 PPP2R5A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.85 PPP2R5A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.85 LAMB3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.85 LAMB3
25 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.85 PPP2R5A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.85 LAMB3
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.85 PPP2R5A
28 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.85 HMOX2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.85 LAMB3

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:

41
Heart

Publications for Progressive Familial Heart Block, Type Ii

Articles related to Progressive Familial Heart Block, Type Ii:

# Title Authors Year
1
YopT domain of the PfhB2 toxin from Pasteurella multocida: protein expression, characterization, crystallization and crystallographic analysis. ( 29497015 )
2018
2
A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3. ( 16086176 )
2005
3
Progressive familial heart block type II (PFHBII): a clinical profile from 1977 to 2003. ( 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

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 9.02 CDC42 FICD HMOX2 LPGAT1 RHOA

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

# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.4 CDC42 RHOA
2 phosphatidylinositol-mediated signaling GO:0048015 9.37 KCNH1 RHOA
3 regulation of cell shape GO:0008360 9.33 CCL7 CDC42 RHOA
4 substantia nigra development GO:0021762 9.32 CDC42 RHOA
5 positive regulation of cytokinesis GO:0032467 9.26 CDC42 RHOA
6 cell junction assembly GO:0034329 8.96 CDC42 RHOA
7 establishment of epithelial cell apical/basal polarity GO:0045198 8.62 CDC42 RHOA

Sources for Progressive Familial Heart Block, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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