Details of Disease | DrugMAP

General Information of Disease (ID: DISXV14P)

Disease Name	Pulmonary hypertension, primary, 4
Synonyms	PPH4; primary pulmonary hypertension caused by mutation in KCNK3; KCNK3 primary pulmonary hypertension; pulmonary hypertension, primary, type 4; pulmonary hypertension, primary, 4
Definition	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.
Disease Hierarchy	DISD1Y94: Heritable pulmonary arterial hypertension DISXV14P: Pulmonary hypertension, primary, 4
Disease Identifiers	MONDO ID MONDO_0014136 UMLS CUI C3809198 OMIM ID 615344 MedGen ID 815528

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
KCNK3	TTGR91N	Strong	Autosomal dominant	[1]
KCNK3	TTGR91N	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNK3	OTWMAV6G	Strong	Autosomal dominant	[1]
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References

1	A novel channelopathy in pulmonary arterial hypertension. N Engl J Med. 2013 Jul 25;369(4):351-361. doi: 10.1056/NEJMoa1211097.
2	A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.BMC Pulm Med. 2017 Apr 7;17(1):57. doi: 10.1186/s12890-017-0400-z.