Disease #06960 (PPH (hypertension, pulmonary, primary))

Official abbreviation PPH
Name hypertension, pulmonary, primary
OMIM ID -
Inheritance -
Individuals reported having this disease 100
Phenotype entries for this disease 68
Associated with 1 gene SOX17
Associated tissues -
Disease features -
Remarks -
Date created 2022-08-22 09:54:49 +02:00 (CEST)
Date last edited N/A


Individuals

100 entries on 1 page. Showing entries 1 - 100.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00416027 Trio1 PubMed: Barozzi 2019 2 generation family, 1 affected, unaffected heterozygous carrier parents - - Italy - - - - - PPH see paper; ... - ADAT1, ATP13A3 2 1 Johan den Dunnen
00433753 - - - F yes - Tunisian 02y05m - - - PPH HP:0006518 HP:0000961 HP:0001667 - CAPNS1 1 3 Christina Rapp
00471015 HTP78 - - - - Spain - - - - - PPH - - ABCC8 1 1 Lucía Miranda-Alcaraz
00471017 HTP1245 - - - - Spain - - - - - PPH - - TET2 1 1 Lucía Miranda-Alcaraz
00471018 HTP114 - - - - Spain - - - - - PPH - ABCC8 ABCC8 1 1 Lucía Miranda-Alcaraz
00471019 HTP37 - - - - Spain - - - - - PPH - ABCC8 ABCC8 1 1 Lucía Miranda-Alcaraz
00471020 HTP159 - - - - Spain - - - - - PPH - ABCC8 ABCC8 1 1 Lucía Miranda-Alcaraz
00471021 HTP162 - - - - Spain - - - - - PPH - ABCC8 ABCC8 1 1 Lucía Miranda-Alcaraz
00471022 HTP84 - - - - Spain - - - - - PPH - - SMAD1 1 1 Lucía Miranda-Alcaraz
00471023 HTP1483 - - - - Spain - - - - - PPH - ABCC8 ABCC8 1 1 Lucía Miranda-Alcaraz
00471024 HTP88 - - - - Spain - - - - - PPH - - ABCC8 1 1 Lucía Miranda-Alcaraz
00471025 HTP1285 - - - - Spain - - - - - PPH - - SMAD1 1 1 Lucía Miranda-Alcaraz
00471026 HTP594 - - - - Spain - - - - - PPH - - NOTCH3, SMAD4 2 1 Lucía Miranda-Alcaraz
00471027 HTP904 - - - - Spain - - - - - PPH - - ABCC8 1 1 Lucía Miranda-Alcaraz
00471028 HTP81 - - - - Spain - - - - - PPH - - NOTCH3 1 1 Lucía Miranda-Alcaraz
00471029 HTP460 - - - - Spain - - - - - PPH - - NOTCH3 1 1 Lucía Miranda-Alcaraz
00471030 HTP466 - - - - Spain - - - - - PPH - - ABCC8 1 1 Lucía Miranda-Alcaraz
00471031 HTP1514 - - - - Spain - - - - - PPH - - NOTCH3 1 1 Lucía Miranda-Alcaraz
00471032 HTP474 - - - - Spain - - - - - PPH - - ABCC8 1 1 Lucía Miranda-Alcaraz
00471033 HTP589 - - - - Spain - - - - - PPH - - NOTCH3 1 1 Lucía Miranda-Alcaraz
00471034 HTP588 - - - - Spain - - - - - PPH - - ABCC8 1 1 Lucía Miranda-Alcaraz
00471035 HTP831 - - - - Spain - - - - - PPH - - ABCC8, SMAD1 2 1 Lucía Miranda-Alcaraz
00471036 HTP452 - - - - Spain - - - - - PPH - - NOTCH3 1 1 Lucía Miranda-Alcaraz
00471037 HTP337 - - - - Spain - - - - - PPH - - AQP1 1 1 Lucía Miranda-Alcaraz
00471038 HTP1161 - - - - Spain - - - - - PPH - - NOTCH3 1 1 Lucía Miranda-Alcaraz
00471039 HTP11 - - - - Spain - - - - - PPH - - FBLN2 1 1 Lucía Miranda-Alcaraz
00471040 HTP373 - - - - Spain - - - - - PPH - - AQP1, FBLN2 2 1 Lucía Miranda-Alcaraz
00471041 HTP342 - - - - Spain - - - - - PPH - - FBLN2 1 1 Lucía Miranda-Alcaraz
00471042 HTP334 - - - - Spain - - - - - PPH - - BMPR1B 1 1 Lucía Miranda-Alcaraz
00471043 HTP377 - - - - Spain - - - - - PPH - - BMPR1B 1 1 Lucía Miranda-Alcaraz
00471044 HTP395 - - - - Spain - - - - - PPH - - AQP1 1 1 Lucía Miranda-Alcaraz
00471045 HTP800 - - - - Spain - - - - - PPH - - - - 1 Lucía Miranda-Alcaraz
00471046 HTP952 - - - - Spain - - - - - PPH - - BMP10 1 1 Lucía Miranda-Alcaraz
00471047 HTP1326 - - - - Spain - - - - - PPH - - BMPR1A 1 1 Lucía Miranda-Alcaraz
00471136 HTP1301-Pat1 PubMed: Gallego-Zazo 2023 patient, no family history M - Spain - - - - - PPH choledochal cyst, patent foramen ovale, small patent ductus arteriosus - SOX17 1 1 Lucía Miranda-Alcaraz
00471137 HTP973-Pat2 PubMed: Gallego-Zazo 2023 patient, no family history M - Spain - - - - - PPH patent foramen ovale, positive antinuclear antibodies) - SOX17 1 1 Lucía Miranda-Alcaraz
00471138 HTP1089-Pat3 PubMed: Gallego-Zazo 2023 patient, no family history M - Spain - - - - - PPH left isomerism, inferior vena cava draining through hemiazygos vein to coronary sinus, right atrium atrial septal defect - SOX17 1 1 Lucía Miranda-Alcaraz
00471139 HTP964-Pat4 PubMed: Gallego-Zazo 2023 patient, no family history F - Spain - - - - - PPH juvenile rheumatoid arthritis, T-cell large granular lymphocyte leukemia, hypothyroidism - SOX17 1 1 Lucía Miranda-Alcaraz
00471140 HTP1010-Pat5 PubMed: Gallego-Zazo 2023 patient, no family history F - Spain - - - - - PPH big atrial septal defect, patent ductus arteriosus in Eisenmenger, autism - SOX17 1 1 Lucía Miranda-Alcaraz
00471141 HTP379-Pat6 PubMed: Gallego-Zazo 2023 patient, no family history M - Spain - - - - - PPH 67y-severeleft ventricle systolic dysfunction, atrial tachycardia - SOX17 1 1 Lucía Miranda-Alcaraz
00471142 SPO-Pat7 PubMed: Gallego-Zazo 2023 patient, no family history M - Spain - - - - - PPH patent foramen ovale, hypercoagulability, obstructive sleep apnea - SOX17 1 1 Lucía Miranda-Alcaraz
00471143 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471144 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471145 - PubMed: Zhu 2019 patient F - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471146 - PubMed: Zhu 2018 patient F - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471147 - PubMed: Zhu 2019 patient M - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471148 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471149 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471150 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471151 - PubMed: Hiraide 2018 patient F - Japan - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471152 - PubMed: Hiraide 2018 patient M - Japan - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471153 - PubMed: Zhu 2018 patient F - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471154 - PubMed: Zhu 2019 patient F - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471155 - PubMed: Zhu 2019 patient F - United States - - - - - PPH pulmonary arterial hypertension, portopulmonar - SOX17 1 1 Johan den Dunnen
00471156 - PubMed: Zhu 2018 patient M - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471157 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471158 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471159 - PubMed: Zhu 2018 patient F - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471160 - PubMed: Hiraide 2018 patient F - Japan - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471161 - PubMed: Zhu 2018 patient F - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471162 - Wang 2019 acc. Gallego-Zazo-37895315 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471163 - PubMed: Zhu 2019 patient F - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471164 - PubMed: Wang 2021 patient F - China - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471165 - PubMed: Zhu 2018 patient M - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471166 - PubMed: Zhu 2019 patient F - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471167 - PubMed: Zhu 2018 patient F - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471168 - PubMed: Zhu 2019 patient F - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471169 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471170 - PubMed: Montani 2022 patient M - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471171 - PubMed: Hiraide 2018 patient F - Japan - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471172 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471173 - PubMed: Zhu 2018 patient M - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471174 - Wang 2019 acc. Gallego-Zazo-37895315 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471175 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471176 - PubMed: Montani 2022 patient M - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471177 - PubMed: Montani 2022 patient M - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471178 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471179 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471180 - PubMed: Montani 2022 patient M - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471181 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471182 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471183 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471184 - PubMed: Montani 2022 patient M - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471185 - PubMed: Zhu 2018 patient M - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471186 - PubMed: Graf 2018 patient F - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471187 - PubMed: Montani 2022 patient M - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471188 - PubMed: Zhu 2018 patient F - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471189 - PubMed: Zhu 2018 patient F - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471190 - PubMed: Zhu 2019 patient F - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471191 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471192 - PubMed: Zhu 2018 patient - - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471193 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471194 - PubMed: Zhu 2018 patient M - United States - - - - - PPH pulmonary arterial hypertension, congenital heart disease - SOX17 1 1 Johan den Dunnen
00471195 - Wang 2019 acc. Gallego-Zazo-37895315 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471196 - PubMed: Montani 2022 patient M - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471197 - PubMed: Zhu 2018 patient M - United States - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471198 - PubMed: Zhu 2019 patient M - United States - - - - - PPH pulmonary arterial hypertension, drug and toxins exposure - SOX17 1 1 Johan den Dunnen
00471199 - PubMed: Montani 2022 patient F - France - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471200 - PubMed: Graf 2018 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
00471201 - Wang 2019 acc. Gallego-Zazo-37895315 patient - - - - - - - - PPH idiopathic pulmonary arterial hypertension, heritable - SOX17 1 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.