PPH4
MCID: PLM121
MIFTS: 21
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Pulmonary Hypertension, Primary, 4 (PPH4)
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Pulmonary Hypertension, Primary, 4:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder incomplete penetrance variable age at onset (childhood to adulthood) HPO:32
pulmonary hypertension, primary, 4:
Onset and clinical course incomplete penetrance progressive Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Respiratory diseases Cardiovascular diseases Blood diseases |
OMIM
:
57
Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by Ma et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600). (615344)
MalaCards based summary : Pulmonary Hypertension, Primary, 4, is also known as primary pulmonary hypertension 4. An important gene associated with Pulmonary Hypertension, Primary, 4 is KCNK3 (Potassium Two Pore Domain Channel Subfamily K Member 3). The drugs Spironolactone and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and endothelial, and related phenotypes are arrhythmia and pulmonary arterial hypertension UniProtKB/Swiss-Prot : 75 Pulmonary hypertension, primary, 4: 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. |
Diseases in the Pulmonary Hypertension family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615344Human phenotypes related to Pulmonary Hypertension, Primary, 4:32
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Drugs for Pulmonary Hypertension, Primary, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 17)
Interventional clinical trials:
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MalaCards organs/tissues related to Pulmonary Hypertension, Primary, 4:41
Lung,
Heart,
Endothelial
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UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Hypertension, Primary, 4:75
ClinVar genetic disease variations for Pulmonary Hypertension, Primary, 4:6 (show all 44)
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Search
GEO
for disease gene expression data for Pulmonary Hypertension, Primary, 4.
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