MCID: PRG101
MIFTS: 24

Progressive Familial Heart Block, Type Ii

Categories: Rare diseases, Genetic diseases, Cardiovascular 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 53 69
Pfhb2 53 12 49
Pfhbii 53 49
Progressive Familial Heart Block Type Ii 12
Progressive Familial Heart Block Type 2 49
Heart Block Progressive Familial Type 2 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
syncope
stokes-adams attacks
sudden death


HPO:

31
progressive familial heart block, type ii:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


Classifications:



External Ids:

OMIM 53 140400
Disease Ontology 12 DOID:0111075
MedGen 39 C1841658
UMLS 69 C1841658

Summaries for Progressive Familial Heart Block, Type Ii

OMIM : 53 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 and progressive familial heart block, type ia, 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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Familial progressive cardiac conduction defect.

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 29.1 PFHB2 TNNT2
2 progressive familial heart block, type ia 11.1
3 atrial standstill 1 10.0
4 familial progressive cardiac conduction defect 10.0

Symptoms & Phenotypes for Progressive Familial Heart Block, Type Ii

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
sinus bradycardia
atrioventricular nodal disease
atrioventricular block
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:

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

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:

38
Heart

Publications for Progressive Familial Heart Block, Type Ii

Articles related to Progressive Familial Heart Block, Type Ii:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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