Details of Disease

General Information of Disease (ID: DIS1J9D4)

Disease Name Pulmonary hypertension, primary, 3
Synonyms PPH3; pulmonary hypertension, primary, 3; CAV1 primary pulmonary hypertension; pulmonary hypertension, primary, type 3; primary pulmonary hypertension caused by mutation in CAV1
Definition Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.
Disease Hierarchy
DISD1Y94: Heritable pulmonary arterial hypertension
DIS1J9D4: Pulmonary hypertension, primary, 3
Disease Identifiers
MONDO ID
MONDO_0014135
UMLS CUI
C3809192
OMIM ID
615343
MedGen ID
815522

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
CAV1 TTXUBN2 Strong Autosomal dominant [1]
CAV1 TTXUBN2 Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAV1 OTEZUR1L Strong Autosomal dominant [1]
PTCH2 OTOQ0K9V Strong Genetic Variation [3]
------------------------------------------------------------------------------------

References

1 Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. doi: 10.1210/jc.2007-1328. Epub 2008 Jan 22.
2 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.
3 Genetic interaction between Ptc2 and protein phosphatase 4 (PP4) in the regulation of DNA damage response and virulence in Candida albicans.FEMS Yeast Res. 2019 Dec 1;19(8):foz075. doi: 10.1093/femsyr/foz075.