Human Phenotype Ontology 
Grandparent Node:
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Abnormality of renin-angiotensin system (HP:0000847)help
Parent Node:
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Abnormal circulating renin (HP:0040084)help
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Increased circulating renin level (HP:0000848)help
Term ID: 848
Name: Increased circulating renin level
Synonym: Elevated blood renin level; Elevated plasma renin; Hyperreninemia; Increased plasma renin; Increased serum renin
Definition: An increased level of renin in the blood.
Comments:
Reference: HP:0000848
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased circulating renin level (HP:0003351) 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:0000848HP:0000848Increased circulating renin level0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent53
HP:0000848HP:0000848Increased circulating renin level0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1HP:0040283 - Occasional272
HP:0000848HP:0000848Increased circulating renin level0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent9
HP:0000848HP:0000848Increased circulating renin level0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0000848HP:0000848Increased circulating renin level0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent27
HP:0000848HP:0000848Increased circulating renin level0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000848HP:0000848Increased circulating renin level0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000848HP:0000848Increased circulating renin level0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0000848HP:0000848Increased circulating renin level0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040282 - Frequent73
HP:0000848HP:0000848Increased circulating renin level0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency.73
HP:0000848HP:0000848Increased circulating renin level0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0000848HP:0000848Increased circulating renin level0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040283 - Occasional229
HP:0000848HP:0000848Increased circulating renin level0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0000848HP:0000848Increased circulating renin level0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040281 - Very frequent121
HP:0000848HP:0000848Increased circulating renin level0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0000848HP:0000848Increased circulating renin level0KCNJ16 CL E G H37736262OMIM:619406HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000848HP:0000848Increased circulating renin level0MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient.6
HP:0000848HP:0000848Increased circulating renin level0NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant.109
HP:0000848HP:0000848Increased circulating renin level0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent67
HP:0000848HP:0000848Increased circulating renin level0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent61
HP:0000848HP:0000848Increased circulating renin level0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent57
HP:0000848HP:0000848Increased circulating renin level0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0000848HP:0000848Increased circulating renin level0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome.145


Genes (18) :BSND CASR CLCNKA CLCNKB CYP11A1 CYP11B2 HSD3B2 INSR KCNJ1 KCNJ10 KCNJ16 MAGED2 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3

Diseases (19) :ORPHA:89938 OMIM:601198 OMIM:607364 ORPHA:168558 ORPHA:289548 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90791 ORPHA:508 OMIM:241200 ORPHA:199343 OMIM:612780 OMIM:619406 OMIM:300971 OMIM:177735 ORPHA:171876 OMIM:601678 OMIM:263800
 

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