Heritable Pulmonary Arterial Hypertension (FPAH)

Alias:
Hereditary Pulmonary Arterial Hypertension
Familial Pulmonary Arterial Hypertension
Familial Primary Pulmonary Hypertension
Fpah
Hpah
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Heritable Pulmonary Arterial Hypertension, also known as hereditary pulmonary arterial hypertension, is related to pulmonary venoocclusive disease 1, autosomal dominant and telangiectasis. An important gene associated with Heritable Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are Signaling by TGFB family members and Wnt / Hedgehog / Notch. The drugs Oxymetazoline and Phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include heart and endothelial, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased human cytomegalovirus (HCMV) strain AD169 replication
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
<1/1000000
9
85
28

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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