MCID: IDP092
MIFTS: 25

Idiopathic/heritable Pulmonary Arterial Hypertension

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards integrated aliases for Idiopathic/heritable Pulmonary Arterial Hypertension:

Name: Idiopathic/heritable Pulmonary Arterial Hypertension 58
Idiopathic and/or Familial Pulmonary Arterial Hypertension 58 6

Characteristics:

Orphanet epidemiological data:

58
idiopathic/heritable pulmonary arterial hypertension
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (France),1-9/100000 (Czech Republic),1-9/1000000 (Czech Republic),1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare respiratory diseases


Summaries for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards based summary : Idiopathic/heritable Pulmonary Arterial Hypertension, also known as idiopathic and/or familial pulmonary arterial hypertension, is related to pulmonary hypertension and pulmonary hypertension, primary, 1. An important gene associated with Idiopathic/heritable Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2). Affiliated tissues include heart and bone, and related phenotypes are pulmonary arterial hypertension and dyspnea

Related Diseases for Idiopathic/heritable Pulmonary Arterial Hypertension

Diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 29.0 FOXF1 BMPR2
2 pulmonary hypertension, primary, 1 10.3
3 heritable pulmonary arterial hypertension 10.3
4 diaphragmatic hernia, congenital 9.5 FOXF1 BMPR2
5 atrial heart septal defect 9.4 FOXF1 BMPR2

Graphical network of the top 20 diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension:



Diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension

Symptoms & Phenotypes for Idiopathic/heritable Pulmonary Arterial Hypertension

Human phenotypes related to Idiopathic/heritable Pulmonary Arterial Hypertension:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary arterial hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002092
2 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
3 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
4 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
5 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
6 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
7 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
8 heart murmur 58 31 occasional (7.5%) Occasional (29-5%) HP:0030148
9 palpitations 58 31 occasional (7.5%) Occasional (29-5%) HP:0001962
10 right ventricular dilatation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005133
11 elevated jugular venous pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0030848
12 pedal edema 58 31 very rare (1%) Very rare (<4-1%) HP:0010741
13 abnormality of cardiovascular system physiology 58 Frequent (79-30%)

Drugs & Therapeutics for Idiopathic/heritable Pulmonary Arterial Hypertension

Search Clinical Trials , NIH Clinical Center for Idiopathic/heritable Pulmonary Arterial Hypertension

Genetic Tests for Idiopathic/heritable Pulmonary Arterial Hypertension

Anatomical Context for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards organs/tissues related to Idiopathic/heritable Pulmonary Arterial Hypertension:

40
Heart, Bone

Publications for Idiopathic/heritable Pulmonary Arterial Hypertension

Articles related to Idiopathic/heritable Pulmonary Arterial Hypertension:

(show all 24)
# Title Authors PMID Year
1
A novel channelopathy in pulmonary arterial hypertension. 6
23883380 2013
2
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 6
22474227 2012
3
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. 6
21898662 2011
4
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 6
21920918 2011
5
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 6
19211612 2009
6
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. 6
16429403 2006
7
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 6
15965979 2005
8
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. 6
12446270 2003
9
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. 6
12358323 2002
10
Heritable Pulmonary Arterial Hypertension 6
20301658 2002
11
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 6
11115378 2001
12
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 6
11015450 2000
13
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 6
10973254 2000
14
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 6
10903931 2000
15
The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. 6
3291115 1988
16
Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension: extended study results. 61
32290885 2020
17
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. 61
29548663 2018
18
Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension. 61
29233198 2018
19
Clinical phenotypes and outcomes of pulmonary hypertension due to left heart disease: Role of the pre-capillary component. 61
29920539 2018
20
Survival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension. 61
28267959 2017
21
Combining bosentan and sildenafil in pulmonary arterial hypertension patients failing monotherapy: real-world insights. 61
26022952 2015
22
Long-term patient survival with idiopathic/heritable pulmonary arterial hypertension treated at a single center in Japan. 61
24530872 2014
23
Treatment of idiopathic/hereditary pulmonary arterial hypertension. 61
25082294 2014
24
STARTS-2: long-term survival with oral sildenafil monotherapy in treatment-naive pediatric pulmonary arterial hypertension. 61
24637559 2014

Variations for Idiopathic/heritable Pulmonary Arterial Hypertension

ClinVar genetic disease variations for Idiopathic/heritable Pulmonary Arterial Hypertension:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR2 NM_001204.6(BMPR2):c.(?_-63)_(76_?)+61deldeletion Pathogenic 517622 2:203242135-203242334 2:202377412-202377611
2 FOXF1 NM_001451.2(FOXF1):c.(?_15)_(*58_?)deldeletion Pathogenic 228348 16:86544190-86546749 16:86510584-86513143

Expression for Idiopathic/heritable Pulmonary Arterial Hypertension

Search GEO for disease gene expression data for Idiopathic/heritable Pulmonary Arterial Hypertension.

Pathways for Idiopathic/heritable Pulmonary Arterial Hypertension

GO Terms for Idiopathic/heritable Pulmonary Arterial Hypertension

Biological processes related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.32 FOXF1 BMPR2
2 blood vessel development GO:0001568 9.26 FOXF1 BMPR2
3 lung alveolus development GO:0048286 9.16 FOXF1 BMPR2
4 endocardial cushion development GO:0003197 8.96 FOXF1 BMPR2
5 venous blood vessel development GO:0060841 8.62 FOXF1 BMPR2

Sources for Idiopathic/heritable Pulmonary Arterial Hypertension

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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