KEGG DISEASE: Primary pulmonary hypertension

DISEASE: Primary pulmonary hypertension

Entry

H01619                      Disease

Name

Primary pulmonary hypertension

Supergrp

Pulmonary arterial hypertension [DS:H01621]

Description

Primary pulmonary hypertension (PPH) is a progressive disorder characterised by raised pulmonary-artery pressures with pathological changes in precapillary pulmonary arteries.

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Pulmonary heart disease or diseases of pulmonary circulation
   BB01  Pulmonary hypertension
    H01619  Primary pulmonary hypertension
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H01619  Primary pulmonary hypertension

Pathway

hsa04350

TGF-beta signaling pathway

Network

nt06507 TGFB signaling

Gene

(PPH1) BMPR2 [HSA:659] [KO:K04671]
(PPH2) SMAD9 [HSA:4093] [KO:K16791]
(PPH3) CAV1 [HSA:857] [KO:K06278]
(PPH4) KCNK3 [HSA:3777] [KO:K04914]
(PPH5) ATP13A3 [HSA:79572] [KO:K14951]
(PPH6) CAPNS1 [HSA:826] [KO:K08583]
(PPH7) SOX17 [HSA:64321] [KO:K04495]

Drug

Nitric oxide [DR:D00074]

Other DBs

ICD-11:

BB01

MeSH:

D065627

OMIM:

178600 615342 615343 615344 265400 620777 621248

Reference

PMID:9729004

Authors

Gaine SP, Rubin LJ

Title

Primary pulmonary hypertension.

Journal

Lancet 352:719-25 (1998)
DOI:10.1016/S0140-6736(98)02111-4

Reference

PMID:12737878 (PPH1)

Authors

Runo JR, Loyd JE

Title

Primary pulmonary hypertension.

Journal

Lancet 361:1533-44 (2003)
DOI:10.1016/S0140-6736(03)13167-4

Reference

PMID:15005857

Authors

Rudarakanchana N, Morrell NW

Title

Primary pulmonary hypertension: molecular basis and potential for therapy.

Journal

Expert Rev Mol Med 6:1-15 (2004)
DOI:10.1017/S1462399404007483

Reference

PMID:12503718

Authors

Eddahibi S, Morrell N, d'Ortho MP, Naeije R, Adnot S

Title

Pathobiology of pulmonary arterial hypertension.

Journal

Eur Respir J 20:1559-72 (2002)
DOI:10.1183/09031936.02.00081302

Reference

PMID:19211612 (PPH2)

Authors

Shintani M, Yagi H, Nakayama T, Saji T, Matsuoka R

Title

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.

Journal

J Med Genet 46:331-7 (2009)
DOI:10.1136/jmg.2008.062703

Reference

PMID:22474227 (PPH3)

Authors

Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA 3rd, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK

Title

Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

Journal

Circ Cardiovasc Genet 5:336-43 (2012)
DOI:10.1161/CIRCGENETICS.111.961888

Reference

PMID:23883380 (PPH4)

Authors

Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Tregouet DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK

Title

A novel channelopathy in pulmonary arterial hypertension.

Journal

N Engl J Med 369:351-361 (2013)
DOI:10.1056/NEJMoa1211097

Reference

PMID:30679663 (PPH5)

Authors

Barozzi C, Galletti M, Tomasi L, De Fanti S, Palazzini M, Manes A, Sazzini M, Galie N

Title

A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.

Journal

Sci Rep 9:753 (2019)
DOI:10.1038/s41598-018-37277-0

Reference

PMID:38230350 (PPH6)

Authors

Postma AV, Rapp CK, Knoflach K, Volk AE, Lemke JR, Ackermann M, Regamey N, Latzin P, Celant L, Jansen SMA, Bogaard HJ, Ilgun A, Alders M, van Spaendonck-Zwarts KY, Jonigk D, Klein C, Graf S, Kubisch C, Houweling AC, Griese M

Title

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.

Journal

Genet Med Open 1:100811 (2023)
DOI:10.1016/j.gimo.2023.100811

Reference

PMID:33952808 (PPH7)

Authors

Wang TM, Wang SS, Xu YJ, Zhao CM, Qiao XH, Yang CX, Liu XY, Yang YQ

Title

SOX17 Loss-of-Function Mutation Underlying Familial Pulmonary Arterial Hypertension.

Journal

Int Heart J 62:566-574 (2021)
DOI:10.1536/ihj.20-711

LinkDB

» Japanese version

DBGET integrated database retrieval system