Details of Disease | DrugMAP

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.