PPH3
MCID: PLM127
MIFTS: 21

Pulmonary Hypertension, Primary, 3 (PPH3)

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

Aliases & Classifications for Pulmonary Hypertension, Primary, 3

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 3:

Name: Pulmonary Hypertension, Primary, 3 57 75 73
Primary Pulmonary Hypertension 3 29 6
Pph3 57 75
Hypertension, Pulmonary, Primary, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
variable age at onset (range infancy to adulthood)
one family and 1 unrelated patient have been reported (last curated july 2013)


HPO:

32
pulmonary hypertension, primary, 3:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615343
MeSH 44 D006976
UMLS 73 C3809192

Summaries for Pulmonary Hypertension, Primary, 3

UniProtKB/Swiss-Prot : 75 Pulmonary hypertension, primary, 3: 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, 3, also known as primary pulmonary hypertension 3, is related to combined pulmonary fibrosis-emphysema syndrome and triiodothyronine receptor auxiliary protein, and has symptoms including dyspnea An important gene associated with Pulmonary Hypertension, Primary, 3 is CAV1 (Caveolin 1). The drugs Spironolactone and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include endothelial, and related phenotypes are dyspnea and pulmonary arterial hypertension

Description from OMIM: 615343

Related Diseases for Pulmonary Hypertension, Primary, 3

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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined pulmonary fibrosis-emphysema syndrome 10.3
2 triiodothyronine receptor auxiliary protein 10.2
3 pontocerebellar hypoplasia 10.0
4 medial medullary syndrome 10.0

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 3

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
dyspnea

Cardiovascular Vascular:
increased pulmonary vascular resistance
increased pulmonary artery pressure
pulmonary artery vascular wall remodeling
pulmonary arteries show medial hypertrophy


Clinical features from OMIM:

615343

Human phenotypes related to Pulmonary Hypertension, Primary, 3:

32
# Description HPO Frequency HPO Source Accession
1 dyspnea 32 HP:0002094
2 pulmonary arterial hypertension 32 HP:0002092
3 elevated pulmonary artery pressure 32 HP:0004890
4 increased pulmonary vascular resistance 32 HP:0005317

UMLS symptoms related to Pulmonary Hypertension, Primary, 3:


dyspnea

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 3

Drugs for Pulmonary Hypertension, Primary, 3 (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 Natriuretic Agents Phase 4
3 diuretics Phase 4
4 Diuretics, Potassium Sparing Phase 4
5 Natriuretic Peptide, Brain Phase 4
6 Mineralocorticoids Phase 4
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
8 Mineralocorticoid Receptor Antagonists Phase 4
9 Hormone Antagonists Phase 4
10 Hormones Phase 4
11
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
12
Carbetocin Approved, Investigational Phase 3 37025-55-1 71715 16681432
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 Management of Atonic Post Partum Haemorrhage (PPH) in Women Delivered Vaginally: A Randomised Controlled Trial Completed NCT02304055 Phase 3 Carbetocin;Oxytocin

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 3

Genetic Tests for Pulmonary Hypertension, Primary, 3

Genetic tests related to Pulmonary Hypertension, Primary, 3:

# Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension 3 29 CAV1

Anatomical Context for Pulmonary Hypertension, Primary, 3

MalaCards organs/tissues related to Pulmonary Hypertension, Primary, 3:

41
Endothelial

Publications for Pulmonary Hypertension, Primary, 3

Variations for Pulmonary Hypertension, Primary, 3

ClinVar genetic disease variations for Pulmonary Hypertension, Primary, 3:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV1 NM_001753.4(CAV1): c.474delA (p.Leu159Serfs) deletion Pathogenic rs587777017 GRCh37 Chromosome 7, 116199278: 116199278
2 CAV1 NM_001753.4(CAV1): c.474delA (p.Leu159Serfs) deletion Pathogenic rs587777017 GRCh38 Chromosome 7, 116559224: 116559224
3 CAV1 NM_001753.4(CAV1): c.473delC (p.Pro158Hisfs) deletion Pathogenic rs879255566 GRCh37 Chromosome 7, 116199277: 116199277
4 CAV1 NM_001753.4(CAV1): c.473delC (p.Pro158Hisfs) deletion Pathogenic rs879255566 GRCh38 Chromosome 7, 116559223: 116559223
5 CAV1 NM_001753.4(CAV1): c.401_402delTTinsA (p.Ile134Lysfs) indel Pathogenic rs587780295 GRCh37 Chromosome 7, 116199205: 116199206
6 CAV1 NM_001753.4(CAV1): c.401_402delTTinsA (p.Ile134Lysfs) indel Pathogenic rs587780295 GRCh38 Chromosome 7, 116559151: 116559152
7 CAV1 NM_001753.4(CAV1): c.156C> T (p.Val52=) single nucleotide variant Benign rs10029 GRCh37 Chromosome 7, 116166704: 116166704
8 CAV1 NM_001753.4(CAV1): c.156C> T (p.Val52=) single nucleotide variant Benign rs10029 GRCh38 Chromosome 7, 116526650: 116526650
9 CAV1 NM_001753.4(CAV1): c.479_480delTT (p.Phe160Terfs) deletion Pathogenic rs797044871 GRCh37 Chromosome 7, 116199283: 116199284
10 CAV1 NM_001753.4(CAV1): c.479_480delTT (p.Phe160Terfs) deletion Pathogenic rs797044871 GRCh38 Chromosome 7, 116559229: 116559230
11 CAV1 NM_001753.4(CAV1): c.192C> T (p.Val64=) single nucleotide variant Likely benign rs749434738 GRCh37 Chromosome 7, 116166740: 116166740
12 CAV1 NM_001753.4(CAV1): c.192C> T (p.Val64=) single nucleotide variant Likely benign rs749434738 GRCh38 Chromosome 7, 116526686: 116526686
13 BMPR1B NM_001256792.1(BMPR1B): c.80C> G (p.Pro27Arg) single nucleotide variant Uncertain significance rs757312834 GRCh37 Chromosome 4, 96025655: 96025655
14 BMPR1B NM_001256792.1(BMPR1B): c.80C> G (p.Pro27Arg) single nucleotide variant Uncertain significance rs757312834 GRCh38 Chromosome 4, 95104504: 95104504
15 CAV1 NM_001753.4(CAV1): c.500T> C (p.Phe167Ser) single nucleotide variant Likely benign rs201966419 GRCh38 Chromosome 7, 116559250: 116559250
16 CAV1 NM_001753.4(CAV1): c.500T> C (p.Phe167Ser) single nucleotide variant Likely benign rs201966419 GRCh37 Chromosome 7, 116199304: 116199304
17 CAV1 NM_001753.4(CAV1): c.448A> G (p.Ile150Val) single nucleotide variant Uncertain significance rs140936491 GRCh38 Chromosome 7, 116559198: 116559198
18 CAV1 NM_001753.4(CAV1): c.448A> G (p.Ile150Val) single nucleotide variant Uncertain significance rs140936491 GRCh37 Chromosome 7, 116199252: 116199252

Expression for Pulmonary Hypertension, Primary, 3

Search GEO for disease gene expression data for Pulmonary Hypertension, Primary, 3.

Pathways for Pulmonary Hypertension, Primary, 3

GO Terms for Pulmonary Hypertension, Primary, 3

Sources for Pulmonary Hypertension, Primary, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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54 NINDS
55 Novoseek
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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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