Details of Disease

General Information of Disease (ID: DIS7TSNY)

Disease Name Pulmonary hypertension, primary, 2
Synonyms PPH2; pulmonary hypertension, primary, 2; primary pulmonary hypertension caused by mutation in SMAD9; pulmonary hypertension, primary, type 2; SMAD9 primary pulmonary hypertension
Definition Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.
Disease Hierarchy
DISD1Y94: Heritable pulmonary arterial hypertension
DIS7TSNY: Pulmonary hypertension, primary, 2
Disease Identifiers
MONDO ID
MONDO_0014134
UMLS CUI
C3888002
OMIM ID
615342
MedGen ID
854709

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SMAD9 TTX8EBV Limited Biomarker [1]
SMAD9 TTX8EBV Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMAD9 OTK4M1H8 Strong Autosomal dominant [2]
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References

1 Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12.
2 A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. J Med Genet. 2009 May;46(5):331-7. doi: 10.1136/jmg.2008.062703. Epub 2009 Feb 11.