PPH2
MCID: PLM128
MIFTS: 24

Pulmonary Hypertension, Primary, 2 (PPH2)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Hypertension, Primary, 2

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 2:

Name: Pulmonary Hypertension, Primary, 2 58 76 74
Primary Pulmonary Hypertension 2 30 6
Pph2 58 76
Hypertension, Pulmonary, Primary, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
incomplete penetrance
variable age at onset


HPO:

33
pulmonary hypertension, primary, 2:
Onset and clinical course incomplete penetrance progressive
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615342
MeSH 45 D006976
UMLS 74 C3888002

Summaries for Pulmonary Hypertension, Primary, 2

UniProtKB/Swiss-Prot : 76 Pulmonary hypertension, primary, 2: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

MalaCards based summary : Pulmonary Hypertension, Primary, 2, also known as primary pulmonary hypertension 2, is related to triiodothyronine receptor auxiliary protein and pachyonychia congenita 3. An important gene associated with Pulmonary Hypertension, Primary, 2 is SMAD9 (SMAD Family Member 9). The drugs Spironolactone and Mineralocorticoids have been mentioned in the context of this disorder. Affiliated tissues include endothelial, brain and heart, and related phenotypes are pulmonary arterial hypertension and increased pulmonary vascular resistance

Description from OMIM: 615342

Related Diseases for Pulmonary Hypertension, Primary, 2

Diseases in the Pulmonary Hypertension family:

Pulmonary Hypertension, Primary, 1 Pulmonary Hypertension, Primary, Autosomal Recessive
Pulmonary Hypertension, Primary, 2 Pulmonary Hypertension, Primary, 3
Pulmonary Hypertension, Primary, 4

Diseases related to Pulmonary Hypertension, Primary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 triiodothyronine receptor auxiliary protein 10.1
2 pachyonychia congenita 3 10.1

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 2

Human phenotypes related to Pulmonary Hypertension, Primary, 2:

33
# Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 33 HP:0002092
2 increased pulmonary vascular resistance 33 HP:0005317

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
increased pulmonary vascular resistance
pulmonary artery hypertension

Cardiovascular Heart:
right heart failure

Clinical features from OMIM:

615342

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 2

Drugs for Pulmonary Hypertension, Primary, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
2 Mineralocorticoids Phase 4
3 Hormones Phase 4
4 Natriuretic Agents Phase 4
5 Mineralocorticoid Receptor Antagonists Phase 4
6 Natriuretic Peptide, Brain Phase 4
7 Hormone Antagonists Phase 4
8 diuretics Phase 4
9 Diuretics, Potassium Sparing Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11
Carbetocin Approved, Investigational Phase 3 37025-55-1 71715 16681432
12
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
13 Oxytocics Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spironolactone Therapy in Chronic Stable Right HF Trial Recruiting NCT03344159 Phase 4 Spironolactone;Placebo
2 Carbetocin Versus Oxytocin in the Prevention of Post Partum Haemorrhage (PPH) in Women Delivered Vaginally With at Least 2 Risk Factors for Atonic PPH: A Randomised Controlled Trial Completed NCT02304042 Phase 3 Carbetocin;Oxytocin

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 2

Genetic Tests for Pulmonary Hypertension, Primary, 2

Genetic tests related to Pulmonary Hypertension, Primary, 2:

# Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension 2 30 SMAD9

Anatomical Context for Pulmonary Hypertension, Primary, 2

MalaCards organs/tissues related to Pulmonary Hypertension, Primary, 2:

42
Endothelial, Brain, Heart

Publications for Pulmonary Hypertension, Primary, 2

Variations for Pulmonary Hypertension, Primary, 2

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Hypertension, Primary, 2:

76
# Symbol AA change Variation ID SNP ID
1 SMAD9 p.Lys43Glu VAR_066871 rs397514715

ClinVar genetic disease variations for Pulmonary Hypertension, Primary, 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMAD9 NM_001127217.2(SMAD9): c.788G> A (p.Arg263Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78249575 GRCh38 Chromosome 13, 36865752: 36865752
2 SMAD9 NM_001127217.2(SMAD9): c.788G> A (p.Arg263Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs78249575 GRCh37 Chromosome 13, 37439889: 37439889
3 SMAD9 NM_001127217.2(SMAD9): c.606C> A (p.Cys202Ter) single nucleotide variant Pathogenic rs121918359 GRCh37 Chromosome 13, 37446859: 37446859
4 SMAD9 NM_001127217.2(SMAD9): c.606C> A (p.Cys202Ter) single nucleotide variant Pathogenic rs121918359 GRCh38 Chromosome 13, 36872722: 36872722
5 SMAD9 NM_001127217.2(SMAD9): c.127A> G (p.Lys43Glu) single nucleotide variant Pathogenic rs397514715 GRCh37 Chromosome 13, 37453700: 37453700
6 SMAD9 NM_001127217.2(SMAD9): c.127A> G (p.Lys43Glu) single nucleotide variant Pathogenic rs397514715 GRCh38 Chromosome 13, 36879563: 36879563
7 SMAD9 NM_001127217.2(SMAD9): c.880C> T (p.Arg294Ter) single nucleotide variant Pathogenic rs397514716 GRCh37 Chromosome 13, 37439797: 37439797
8 SMAD9 NM_001127217.2(SMAD9): c.880C> T (p.Arg294Ter) single nucleotide variant Pathogenic rs397514716 GRCh38 Chromosome 13, 36865660: 36865660
9 SMAD9 NM_001127217.2(SMAD9): c.756T> C (p.His252=) single nucleotide variant Benign/Likely benign rs146836873 GRCh37 Chromosome 13, 37441435: 37441435
10 SMAD9 NM_001127217.2(SMAD9): c.756T> C (p.His252=) single nucleotide variant Benign/Likely benign rs146836873 GRCh38 Chromosome 13, 36867298: 36867298
11 SMAD9 NM_001127217.2(SMAD9): c.743C> A (p.Thr248Lys) single nucleotide variant Benign/Likely benign rs79733377 GRCh37 Chromosome 13, 37441448: 37441448
12 SMAD9 NM_001127217.2(SMAD9): c.743C> A (p.Thr248Lys) single nucleotide variant Benign/Likely benign rs79733377 GRCh38 Chromosome 13, 36867311: 36867311
13 SMAD9 NM_001127217.2(SMAD9): c.603G> T (p.Pro201=) single nucleotide variant Likely benign rs934648707 GRCh37 Chromosome 13, 37446862: 37446862
14 SMAD9 NM_001127217.2(SMAD9): c.603G> T (p.Pro201=) single nucleotide variant Likely benign rs934648707 GRCh38 Chromosome 13, 36872725: 36872725
15 SMAD9 NM_001127217.2(SMAD9): c.781+2T> A single nucleotide variant Uncertain significance rs770716081 GRCh37 Chromosome 13, 37441408: 37441408
16 SMAD9 NM_001127217.2(SMAD9): c.781+2T> A single nucleotide variant Uncertain significance rs770716081 GRCh38 Chromosome 13, 36867271: 36867271

Expression for Pulmonary Hypertension, Primary, 2

Search GEO for disease gene expression data for Pulmonary Hypertension, Primary, 2.

Pathways for Pulmonary Hypertension, Primary, 2

GO Terms for Pulmonary Hypertension, Primary, 2

Sources for Pulmonary Hypertension, Primary, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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31 HGMD
32 HMDB
33 HPO
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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