MCID: PRG101
MIFTS: 24

Progressive Familial Heart Block, Type Ii

Categories: Rare diseases, Cardiovascular diseases, Genetic 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 54 69
Pfhb2 12 50
Progressive Familial Heart Block Type Ii 12
Progressive Familial Heart Block Type 2 50
Heart Block Progressive Familial Type 2 50
Pfhbii 50

Characteristics:

OMIM:

54
Miscellaneous:
sudden death
stokes-adams attacks
syncope

Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Progressive Familial Heart Block, Type Ii

OMIM : 54
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 heart block, progressive, type ia and progressive familial heart block, and has symptoms including syncope, sudden cardiac death and sinus bradycardia. An important gene associated with Progressive Familial Heart Block, Type Ii is PFHB2 (Progressive Familial Heart Block, Type II). Affiliated tissues include heart and kidney.

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.

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

Related Diseases for Progressive Familial Heart Block, Type Ii

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 Ii via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 heart block, progressive, type ia 11.0
2 progressive familial heart block 10.0
3 thyroid lymphoma 9.2 PFHB2 TNNT2

Symptoms & Phenotypes for Progressive Familial Heart Block, Type Ii

Symptoms via clinical synopsis from OMIM:

54

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


Clinical features from OMIM:

140400

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

32
id Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sudden cardiac death 32 HP:0001645
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

Drugs & Therapeutics for Progressive Familial Heart Block, Type Ii

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Predicting Hypoglycaemia and Arrhythmias in the Vulnerable Patient With Diabetes and Chronic Kidney Disease Completed NCT02315300
2 The Signal-averaged ElectrocArdiogram in Long Term Follow-up of Chronic CHagas Disease - RIO de Janeiro Cohort Completed NCT01340963

Search 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:

39
Heart, Kidney

Publications for Progressive Familial Heart Block, Type Ii

Articles related to Progressive Familial Heart Block, Type Ii:

id Title Authors Year
1
A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3. ( 16086176 )
2005
2
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

Sources for Progressive Familial Heart Block, Type Ii

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
46 NCI
47 NCIt
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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