Details of Disease

General Information of Disease (ID: DIS6UZY8)

Disease Name Pulmonary hypertension, primary, 1
Synonyms
Pph1 with Hht; pulmonary hypertension, primary, Fenfluramine-associated; pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia; pulmonary arterial hypertension; pulmonary hypertension, primary, Dexfenfluramine-associated; PHT; PPH1; pulmonary hypertension, familial primary, 1, with or without HHT; pulmonary hypertension, primary, 1; pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated; BMPR2 primary pulmonary hypertension; primary pulmonary hypertension caused by mutation in BMPR2
Definition Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.
Disease Hierarchy
DISD1Y94: Heritable pulmonary arterial hypertension
DIS6UZY8: Pulmonary hypertension, primary, 1
Disease Identifiers
MONDO ID
MONDO_0024533
MESH ID
D065627
UMLS CUI
C4552070
OMIM ID
178600
MedGen ID
1643124

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BMPR2 TTGKF90 moderate CausalMutation [1]
ACVRL1 TTGYPTC Strong CausalMutation [2]
ENG TTB30LE Strong CausalMutation [2]
HDAC1 TT6R7JZ Strong Biomarker [3]
HDAC4 TTTQGH8 Strong Biomarker [3]
HDAC5 TTUELN5 Strong Biomarker [3]
BMPR2 TTGKF90 Definitive Autosomal dominant [4]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BMPR2 OTM9W547 Definitive Autosomal dominant [4]
------------------------------------------------------------------------------------

References

1 Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.
2 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.
3 Histone deacetylation inhibition in pulmonary hypertension: therapeutic potential of valproic acid and suberoylanilide hydroxamic acid.Circulation. 2012 Jul 24;126(4):455-67. doi: 10.1161/CIRCULATIONAHA.112.103176. Epub 2012 Jun 18.
4 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.