Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
expand
Abnormality of renin-angiotensin system (HP:0000847)help
..Starting node
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Hyperactive renin-angiotensin system (HP:0000841)help
Term ID: 841
Name: Hyperactive renin-angiotensin system
Synonym: Increased plasma renin activity
Definition: An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.
Comments:
Reference: HP:0000841
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal circulating aldosterone (HP:0040085) help
..expandAbnormal circulating renin (HP:0040084) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000841HP:0000841Hyperactive renin-angiotensin system0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent53
HP:0000841HP:0000841Hyperactive renin-angiotensin system0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent9
HP:0000841HP:0000841Hyperactive renin-angiotensin system0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0000841HP:0000841Hyperactive renin-angiotensin system0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent27
HP:0000841HP:0000841Hyperactive renin-angiotensin system0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0000841HP:0000841Hyperactive renin-angiotensin system0NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant.109
HP:0000841HP:0000841Hyperactive renin-angiotensin system0SCNN1A CL E G H633710599OMIM:264350Pseudohypoaldosteronism, type I, autosomal recessive.67
HP:0000841HP:0000841Hyperactive renin-angiotensin system0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0000841HP:0000841Hyperactive renin-angiotensin system0SLC26A3 CL E G H18113018OMIM:214700Diarrhea 1, secretory chloride, congenital.89


Genes (8) :BSND CLCNKA CLCNKB KCNJ1 NR3C2 SCNN1A SLC12A1 SLC26A3

Diseases (7) :ORPHA:89938 OMIM:607364 OMIM:241200 OMIM:177735 OMIM:264350 OMIM:601678 OMIM:214700
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.