Human Phenotype Ontology 
Grandparent Node:
expand
Phenotypic abnormality (HP:0000118)help
Parent Node:
expand
Abnormality of the endocrine system (HP:0000818)help
..Starting node
..expand
Abnormality of renin-angiotensin system (HP:0000847)help
Term ID: 847
Name: Abnormality of renin-angiotensin system
Synonym: Abnormality of the renin-aldosterone axis
Definition: An abnormality of the renin-angiotensin system.
Comments:
Reference: HP:0000847
Genes and Diseases:
 
       Child Nodes:
........expandHyperactive renin-angiotensin system (HP:0000841) help
........expandAbnormal circulating renin (HP:0040084) help
................... HP:0000848 Increased circulating renin level
................... HP:0003351 Decreased circulating renin level
........expandAbnormal circulating aldosterone (HP:0040085) help

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the pineal gland (HP:0012680) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the thyroid gland (HP:0000820) help
..expandDiabetes insipidus (HP:0000873) help
..expandDiabetes mellitus (HP:0000819) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) 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:0000847HP:0000847Abnormality of renin-angiotensin system0AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis67
HP:0000847HP:0000847Abnormality of renin-angiotensin system0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndrome51
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type II44
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 327
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type I112
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism112
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type I73
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0000847HP:0000847Abnormality of renin-angiotensin system0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0000847HP:0000847Abnormality of renin-angiotensin system0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0000847HP:0000847Abnormality of renin-angiotensin system0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess14
HP:0000847HP:0000847Abnormality of renin-angiotensin system0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0000847HP:0000847Abnormality of renin-angiotensin system0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0000847HP:0000847Abnormality of renin-angiotensin system0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 251
HP:0000847HP:0000847Abnormality of renin-angiotensin system0KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0000847HP:0000847Abnormality of renin-angiotensin system0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0000847HP:0000847Abnormality of renin-angiotensin system0KCNJ16 CL E G H37736262OMIM:619406HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000847HP:0000847Abnormality of renin-angiotensin system0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type III128
HP:0000847HP:0000847Abnormality of renin-angiotensin system0KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III128
HP:0000847HP:0000847Abnormality of renin-angiotensin system0MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient6
HP:0000847HP:0000847Abnormality of renin-angiotensin system0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000847HP:0000847Abnormality of renin-angiotensin system0NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy109
HP:0000847HP:0000847Abnormality of renin-angiotensin system0NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant109
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 167
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SCNN1A CL E G H633710599OMIM:264350Pseudohypoaldosteronism, type I, autosomal recessive67
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 161
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 161
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 157
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0000847HP:0000847Abnormality of renin-angiotensin system0SLC26A3 CL E G H18113018OMIM:214700Diarrhea 1, secretory chloride, congenital89
HP:0000847HP:0040084Abnormal circulating renin1AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis67
HP:0000847HP:0000841Hyperactive renin-angiotensin system1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent53
HP:0000847HP:0040084Abnormal circulating renin1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0000847HP:0040084Abnormal circulating renin1CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0000847HP:0040084Abnormal circulating renin1CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040280 - Obligate51
HP:0000847HP:0040084Abnormal circulating renin1CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0000847HP:0040085Abnormal circulating aldosterone1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0000847HP:0040085Abnormal circulating aldosterone1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0000847HP:0040085Abnormal circulating aldosterone1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0000847HP:0040085Abnormal circulating aldosterone1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0000847HP:0040084Abnormal circulating renin1CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type IIHP:0040281 - Very frequent44
HP:0000847HP:0000841Hyperactive renin-angiotensin system1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent9
HP:0000847HP:0040084Abnormal circulating renin1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0000847HP:0000841Hyperactive renin-angiotensin system1CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0000847HP:0040084Abnormal circulating renin1CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 327
HP:0000847HP:0000841Hyperactive renin-angiotensin system1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent27
HP:0000847HP:0040084Abnormal circulating renin1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0000847HP:0040084Abnormal circulating renin1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0000847HP:0040084Abnormal circulating renin1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0000847HP:0040084Abnormal circulating renin1CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000847HP:0040084Abnormal circulating renin1CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0000847HP:0040084Abnormal circulating renin1CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type IHP:0040281 - Very frequent112
HP:0000847HP:0040084Abnormal circulating renin1CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism112
HP:0000847HP:0040084Abnormal circulating renin1CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0000847HP:0040084Abnormal circulating renin1CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0000847HP:0040084Abnormal circulating renin1CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type IHP:0040281 - Very frequent73
HP:0000847HP:0040084Abnormal circulating renin1CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0000847HP:0040084Abnormal circulating renin1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0000847HP:0040084Abnormal circulating renin1HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0000847HP:0040084Abnormal circulating renin1HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess14
HP:0000847HP:0040084Abnormal circulating renin1HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0000847HP:0040084Abnormal circulating renin1INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0000847HP:0040084Abnormal circulating renin1KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 251
HP:0000847HP:0000841Hyperactive renin-angiotensin system1KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0000847HP:0040084Abnormal circulating renin1KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0000847HP:0040084Abnormal circulating renin1KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0000847HP:0040084Abnormal circulating renin1KCNJ16 CL E G H37736262OMIM:619406HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000847HP:0040084Abnormal circulating renin1KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040280 - Obligate128
HP:0000847HP:0040084Abnormal circulating renin1KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III128
HP:0000847HP:0040084Abnormal circulating renin1MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient6
HP:0000847HP:0040085Abnormal circulating aldosterone1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0000847HP:0040084Abnormal circulating renin1NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy109
HP:0000847HP:0000841Hyperactive renin-angiotensin system1NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant.109
HP:0000847HP:0040084Abnormal circulating renin1NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant109
HP:0000847HP:0040085Abnormal circulating aldosterone1SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent67
HP:0000847HP:0040084Abnormal circulating renin1SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 167
HP:0000847HP:0000841Hyperactive renin-angiotensin system1SCNN1A CL E G H633710599OMIM:264350Pseudohypoaldosteronism, type I, autosomal recessive.67
HP:0000847HP:0040084Abnormal circulating renin1SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 161
HP:0000847HP:0040085Abnormal circulating aldosterone1SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent61
HP:0000847HP:0040084Abnormal circulating renin1SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 161
HP:0000847HP:0040085Abnormal circulating aldosterone1SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent57
HP:0000847HP:0040084Abnormal circulating renin1SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 157
HP:0000847HP:0040084Abnormal circulating renin1SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0000847HP:0000841Hyperactive renin-angiotensin system1SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0000847HP:0040084Abnormal circulating renin1SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0000847HP:0040084Abnormal circulating renin1SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0000847HP:0000841Hyperactive renin-angiotensin system1SLC26A3 CL E G H18113018OMIM:214700Diarrhea 1, secretory chloride, congenital.89
HP:0000847HP:0003351Decreased circulating renin level2AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis.67
HP:0000847HP:0000848Increased circulating renin level2BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent53
HP:0000847HP:0003351Decreased circulating renin level2CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities.51
HP:0000847HP:0000848Increased circulating renin level2CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1HP:0040283 - Occasional272
HP:0000847HP:0000848Increased circulating renin level2CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent9
HP:0000847HP:0000848Increased circulating renin level2CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0000847HP:0000848Increased circulating renin level2CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent27
HP:0000847HP:0000848Increased circulating renin level2CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000847HP:0000848Increased circulating renin level2CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000847HP:0003351Decreased circulating renin level2CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000847HP:0003351Decreased circulating renin level2CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040281 - Very frequent112
HP:0000847HP:0003351Decreased circulating renin level2CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism.112
HP:0000847HP:0000848Increased circulating renin level2CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0000847HP:0000848Increased circulating renin level2CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040282 - Frequent73
HP:0000847HP:0000848Increased circulating renin level2CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency.73
HP:0000847HP:0003351Decreased circulating renin level2CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0000847HP:0003351Decreased circulating renin level2HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040281 - Very frequent14
HP:0000847HP:0003351Decreased circulating renin level2HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0000847HP:0000848Increased circulating renin level2HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0000847HP:0000848Increased circulating renin level2INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040283 - Occasional229
HP:0000847HP:0000848Increased circulating renin level2KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0000847HP:0000848Increased circulating renin level2KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040281 - Very frequent121
HP:0000847HP:0000848Increased circulating renin level2KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0000847HP:0000848Increased circulating renin level2KCNJ16 CL E G H37736262OMIM:619406HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000847HP:0003351Decreased circulating renin level2KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III.128
HP:0000847HP:0000848Increased circulating renin level2MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient.6
HP:0000847HP:0003351Decreased circulating renin level2NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy.109
HP:0000847HP:0000848Increased circulating renin level2NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant.109
HP:0000847HP:0000848Increased circulating renin level2SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent67
HP:0000847HP:0000848Increased circulating renin level2SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent61
HP:0000847HP:0003351Decreased circulating renin level2SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 1.61
HP:0000847HP:0000848Increased circulating renin level2SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent57
HP:0000847HP:0003351Decreased circulating renin level2SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 2.57
HP:0000847HP:0000848Increased circulating renin level2SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0000847HP:0000848Increased circulating renin level2SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome.145


Genes (31) :AVPR2 BSND CACNA1D CASR CDKN1A CDKN1B CDKN2B CDKN2C CLCN2 CLCNKA CLCNKB CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 HSD3B2 INSR KCNJ1 KCNJ10 KCNJ16 KCNJ5 MAGED2 MEN1 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3

Diseases (38) :OMIM:300539 ORPHA:89938 OMIM:615474 ORPHA:369929 OMIM:601198 ORPHA:652 ORPHA:404 OMIM:607364 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 ORPHA:403 OMIM:103900 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90793 ORPHA:320 OMIM:218030 ORPHA:90791 ORPHA:508 OMIM:241200 ORPHA:199343 OMIM:612780 OMIM:619406 ORPHA:251274 OMIM:613677 OMIM:300971 OMIM:605115 OMIM:177735 ORPHA:171876 OMIM:264350 OMIM:177200 OMIM:618114 OMIM:601678 OMIM:263800 OMIM:214700
 

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