MCID: IDP075
MIFTS: 13

Idiopathic and/or Familial Pulmonary Arterial Hypertension

Categories: Respiratory diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Idiopathic and/or Familial Pulmonary Arterial Hypertension

MalaCards integrated aliases for Idiopathic and/or Familial Pulmonary Arterial Hypertension:

Name: Idiopathic and/or Familial Pulmonary Arterial Hypertension 59 6

Characteristics:

Orphanet epidemiological data:

59
idiopathic and/or familial 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: 59  
Rare respiratory diseases


Summaries for Idiopathic and/or Familial Pulmonary Arterial Hypertension

MalaCards based summary : Idiopathic and/or Familial Pulmonary Arterial Hypertension An important gene associated with Idiopathic and/or Familial Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2). Affiliated tissues include heart, and related phenotypes are pulmonary arterial hypertension and dyspnea

Related Diseases for Idiopathic and/or Familial Pulmonary Arterial Hypertension

Symptoms & Phenotypes for Idiopathic and/or Familial Pulmonary Arterial Hypertension

Human phenotypes related to Idiopathic and/or Familial Pulmonary Arterial Hypertension:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary arterial hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002092
2 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
3 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
4 palpitations 59 32 occasional (7.5%) Occasional (29-5%) HP:0001962
5 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
6 right ventricular dilatation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005133
7 tricuspid regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005180
8 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
9 heart murmur 59 32 occasional (7.5%) Occasional (29-5%) HP:0030148
10 elevated jugular venous pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0030848
11 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
12 edema of the lower limbs 59 32 very rare (1%) Very rare (<4-1%) HP:0010741
13 abnormality of cardiovascular system physiology 59 Frequent (79-30%)

Drugs & Therapeutics for Idiopathic and/or Familial Pulmonary Arterial Hypertension

Search Clinical Trials , NIH Clinical Center for Idiopathic and/or Familial Pulmonary Arterial Hypertension

Genetic Tests for Idiopathic and/or Familial Pulmonary Arterial Hypertension

Anatomical Context for Idiopathic and/or Familial Pulmonary Arterial Hypertension

MalaCards organs/tissues related to Idiopathic and/or Familial Pulmonary Arterial Hypertension:

41
Heart

Publications for Idiopathic and/or Familial Pulmonary Arterial Hypertension

Variations for Idiopathic and/or Familial Pulmonary Arterial Hypertension

ClinVar genetic disease variations for Idiopathic and/or Familial Pulmonary Arterial Hypertension:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 NM_001204.6(BMPR2): c.(?_-63)_(76_?)+61del deletion Pathogenic GRCh38 Chromosome 2, 202377412: 202377611
2 BMPR2 NM_001204.6(BMPR2): c.(?_-63)_(76_?)+61del deletion Pathogenic GRCh37 Chromosome 2, 203242135: 203242334

Expression for Idiopathic and/or Familial Pulmonary Arterial Hypertension

Search GEO for disease gene expression data for Idiopathic and/or Familial Pulmonary Arterial Hypertension.

Pathways for Idiopathic and/or Familial Pulmonary Arterial Hypertension

GO Terms for Idiopathic and/or Familial Pulmonary Arterial Hypertension

Sources for Idiopathic and/or Familial Pulmonary Arterial Hypertension

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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