Heritable Pulmonary Arterial Hypertension (FPAH)

Heritable Pulmonary Arterial Hypertension(来自ICD-11)
别称:
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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基础信息

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参考文献
MALACARDS
AR
AD
All ages
<1/1000000
9
85
28

疾病表征

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MGI
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