PDE3A, phosphodiesterase 3A, 5139

N. diseases: 58; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease BEFREE Genetic analysis identified a missense mutation in PDE3A, c.1346G>A, in the proband with HTNB. 31549136 2020
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease BEFREE PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features. 31589936 2019
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease BEFREE Here, we expand the list of PDE3A mutations identified in Bilginturan syndrome and emphasize the importance of standardized genetic testing of HTNB patients to improve diagnostics at an early age. 30209282 2018
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease BEFREE These are termed, starting from PTH receptor inactivation mutation (Eiken and Blomstrand dysplasia) as iPPSD1, inactivating Gsα mutations (PHP-Ia, PHP-Ic and pPHP) as iPPSD2, loss of methylation of GNAS DMRs (PHP-Ib) as iPPSD3, PRKAR1A mutations (acrodysostosis type 1) as iPPSD4, PDE4D mutations (acrodysostosis type 2) as iPPSD5 and PDE3A mutations (autosomal dominant hypertension with brachydactyly) as iPPSD6. iPPSDx is reserved for unknown molecular defects and iPPSDn+1 for new molecular defects which are yet to be described. 29280743 2017
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease BEFREE We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple HTNB patients. 27053290 2016
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 Biomarker disease CTD_human PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GermlineCausalMutation disease ORPHANET PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease UNIPROT PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 Biomarker disease GENOMICS_ENGLAND PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease BEFREE PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease BEFREE Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly. 26283042 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 Biomarker disease GENOMICS_ENGLAND Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension. 9696728 1998
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 CausalMutation disease CLINVAR
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.400 GeneticVariation group GWASCAT Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.400 Biomarker group CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.300 Biomarker disease CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.300 Biomarker disease CTD_human These data suggest that there is a phosphodiesterase 3A-ICER positive-feedback loop leading to myocyte apoptosis and ongoing development of heart failure after myocardial infarction. 19027736 2009
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.300 Biomarker phenotype CTD_human In vivo, PDE3A KO mice were protected against collagen/epinephrine-induced pulmonary thrombosis and death, while no such protection was observed in PDE3B KO mice. 17482796 2007
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human Role of phosphodiesterase type 3A and 3B in regulating platelet and cardiac function using subtype-selective knockout mice. 17482796 2007
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Alterations in EDHF-type relaxation and phosphodiesterase activity in mesenteric arteries from diabetic rats. 12793980 2003
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.200 Biomarker disease RGD cGMP-phosphodiesterase activity is up-regulated in response to pressure overload of rat ventricles. 12834273 2003
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.200 Biomarker phenotype RGD Increased expression of the cGMP-inhibited cAMP-specific (PDE3) and cGMP binding cGMP-specific (PDE5) phosphodiesterases in models of pulmonary hypertension. 12466227 2002
CUI: C0028754
Disease: Obesity
Obesity 		0.200 Biomarker disease RGD Cyclic nucleotide phosphodiesterase 3 expression in vivo: evidence for tissue-specific expression of phosphodiesterase 3A or 3B mRNA and activity in the aorta and adipose tissue of atherosclerosis-prone insulin-resistant rats. 9648839 1998
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 AlteredExpression group BEFREE PDE3A downregulation can be linked to the reduction in NO-GC and is not an effect of the increased blood pressure levels resulting from NO-GC deletion. 29294149 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.160 GeneticVariation group BEFREE We report a novel PDE3A gene mutation in a mother and daughter affected with dominant brachydactyly of the hands and feet, a short stature, and hypertension. 30209282 2018