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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hyperaldosteronism
  

Disease ID 952
Disease hyperaldosteronism
Definition
A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA.
Synonym
aldosteronism
aldosteronism (disorder)
aldosteronism nos
aldosteronism, nos
elevated plasma aldosterone
hyperaldosteronism [disease/finding]
hyperaldosteronism nos
hyperaldosteronism nos (disorder)
hyperaldosteronism, nos
hyperaldosteronism, unspecified
increased aldosterone
increased aldosterone production
mineralocorticoid excess
DOID
ICD10
UMLS
C0020428
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:45)
C0020538  |  hypertension  |  24
C0001430  |  adenoma  |  6
C0155616  |  secondary hypertension  |  5
C0206667  |  adrenal adenoma  |  4
C0221002  |  primary hyperparathyroidism  |  4
C1621895  |  adrenal hyperplasia  |  4
C0018801  |  heart failure  |  4
C0334684  |  renal adenoma  |  4
C0020502  |  hyperparathyroidism  |  3
C0010481  |  cushing's syndrome  |  3
C0042373  |  vascular disease  |  2
C0022661  |  chronic kidney disease  |  2
C0010481  |  cushing syndrome  |  2
C0011847  |  diabetes  |  2
C0037315  |  sleep apnea  |  2
C0948265  |  metabolic syndrome  |  1
C0001815  |  myeloid metaplasia  |  1
C0033687  |  proteinuria  |  1
C0020456  |  hyperglycemia  |  1
C0027819  |  neuroblastoma  |  1
C0022679  |  cystic kidney  |  1
C0024586  |  carcinoid syndrome  |  1
C1384514  |  primary aldosteronism  |  1
C0085413  |  autosomal dominant polycystic kidney  |  1
C0085413  |  autosomal dominant polycystic kidney disease  |  1
C0022658  |  kidney disease  |  1
C0007222  |  cardiovascular disease  |  1
C0221043  |  pseudohyperaldosteronism  |  1
C0022658  |  renal disease  |  1
C0042373  |  vascular diseases  |  1
C1370740  |  adrenal carcinoma  |  1
C0007222  |  cardiovascular diseases  |  1
C0030443  |  periodic paralysis  |  1
C0031036  |  polyarteritis nodosa  |  1
C0007134  |  renal carcinoma  |  1
C0085580  |  essential hypertension  |  1
C0033804  |  pseudohermaphroditism  |  1
C0001621  |  adrenal disease  |  1
C0028754  |  adiposity  |  1
C0206667  |  adrenocortical adenoma  |  1
C0027051  |  heart attack  |  1
C0011849  |  diabetes mellitus  |  1
C0677607  |  hashimoto's thyroiditis  |  1
C0020540  |  accelerated hypertension  |  1
C0001622  |  hypercortisolism  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
776  |  CACNA1D  |  CTD_human
1584  |  CYP11B1  |  CTD_human
476  |  ATP1A1  |  CTD_human
1585  |  CYP11B2  |  CTD_human
492  |  ATP2B3  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:48)
183  |  AGT  |  3.452  |  DISEASES
249  |  ALPL  |  1.239  |  DISEASES
408  |  ARRB1  |  2.383  |  DISEASES
480  |  ATP1A4  |  4.02  |  DISEASES
93974  |  ATPIF1  |  1.702  |  DISEASES
551  |  AVP  |  3.351  |  DISEASES
7809  |  BSND  |  3.132  |  DISEASES
153571  |  C5orf38  |  1.005  |  DISEASES
774  |  CACNA1B  |  1.223  |  DISEASES
8912  |  CACNA1H  |  3.502  |  DISEASES
801  |  CALM1  |  1.913  |  DISEASES
1188  |  CLCNKB  |  4.316  |  DISEASES
1408  |  CRY2  |  2.335  |  DISEASES
1585  |  CYP11B2  |  6.763  |  DISEASES
1586  |  CYP17A1  |  2.676  |  DISEASES
1555  |  CYP2B6  |  2.444  |  DISEASES
2232  |  FDXR  |  1.238  |  DISEASES
285943  |  HOXA-AS2  |  2.498  |  DISEASES
3283  |  HSD3B1  |  2.996  |  DISEASES
3284  |  HSD3B2  |  1.857  |  DISEASES
3360  |  HTR4  |  2.201  |  DISEASES
3753  |  KCNE1  |  1.13  |  DISEASES
3758  |  KCNJ1  |  4.119  |  DISEASES
3762  |  KCNJ5  |  5.662  |  DISEASES
3778  |  KCNMA1  |  1.201  |  DISEASES
9365  |  KL  |  2.637  |  DISEASES
9622  |  KLK4  |  3.089  |  DISEASES
4158  |  MC2R  |  1.683  |  DISEASES
4221  |  MEN1  |  1.685  |  DISEASES
8972  |  MGAM  |  2.351  |  DISEASES
4878  |  NPPA  |  1.834  |  DISEASES
4306  |  NR3C2  |  5.581  |  DISEASES
3164  |  NR4A1  |  1.072  |  DISEASES
4929  |  NR4A2  |  2.389  |  DISEASES
2516  |  NR5A1  |  1.165  |  DISEASES
54681  |  P4HTM  |  1.226  |  DISEASES
5121  |  PCP4  |  2.451  |  DISEASES
5573  |  PRKAR1A  |  2.159  |  DISEASES
5575  |  PRKAR1B  |  2.677  |  DISEASES
6337  |  SCNN1A  |  2.115  |  DISEASES
6338  |  SCNN1B  |  2.033  |  DISEASES
6446  |  SGK1  |  2.431  |  DISEASES
6557  |  SLC12A1  |  3.752  |  DISEASES
6559  |  SLC12A3  |  4.497  |  DISEASES
1811  |  SLC26A3  |  2.879  |  DISEASES
55553  |  SOX6  |  1.008  |  DISEASES
200734  |  SPRED2  |  1.889  |  DISEASES
50834  |  TAS2R1  |  2.555  |  DISEASES
Locus(Waiting for update.)
Disease ID 952
Disease hyperaldosteronism
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:47)
HP:0000822  |  Hypertension  |  29
HP:0002900  |  Hypokalemia  |  11
HP:0008221  |  Enlarged adrenal glands  |  6
HP:0001685  |  Myocardial fibrosis  |  4
HP:0001635  |  Congestive heart failure  |  4
HP:0008200  |  Primary hyperparathyroidism  |  4
HP:0002615  |  Low blood pressure  |  3
HP:0001578  |  Hypercortisolism  |  3
HP:0200114  |  Metabolic alkalosis  |  3
HP:0000843  |  Hyperparathyroidism  |  3
HP:0001948  |  Alkalosis  |  3
HP:0000848  |  Hyperreninemia  |  2
HP:0012622  |  Chronic kidney disease  |  2
HP:0100570  |  Carcinoid tumor  |  2
HP:0010535  |  Sleep apnea  |  2
HP:0001960  |  Hypokalemic metabolic alkalosis  |  2
HP:0003470  |  Inability to move  |  2
HP:0002385  |  Paraparesis  |  2
HP:0002104  |  Absence of spontaneous respiration  |  2
HP:0001658  |  Myocardial infarction  |  1
HP:0000093  |  Proteinuria  |  1
HP:0008256  |  Adrenocortical adenomas  |  1
HP:0001712  |  Left ventricular hypertrophy  |  1
HP:0000121  |  Nephrocalcinosis  |  1
HP:0003074  |  High blood glucose  |  1
HP:0006744  |  Adrenal carcinoma  |  1
HP:0004308  |  Ventricular arrhythmia  |  1
HP:0008231  |  Macronodular adrenal hyperplasia  |  1
HP:0012408  |  Medullary nephrocalcinosis  |  1
HP:0003201  |  Rhabdomyolysis  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0000872  |  Hashimoto's thyroiditis  |  1
HP:0002917  |  Low blood magnesium levels  |  1
HP:0002170  |  Intracranial hemorrhage  |  1
HP:0003768  |  Periodic paralysis  |  1
HP:0000819  |  Diabetes mellitus  |  1
HP:0001714  |  Ventricular hypertrophy  |  1
HP:0002153  |  Elevated serum potassium levels  |  1
HP:0000037  |  Male pseudohermaphroditism  |  1
HP:0001250  |  Seizures  |  1
HP:0003006  |  Neuroblastoma  |  1
HP:0001695  |  Cardiac arrest  |  1
HP:0000855  |  Insulin resistance  |  1
HP:0001518  |  Small for gestational age  |  1
HP:0000113  |  Polycystic kidney dysplasia  |  1
HP:0005584  |  Renal cell carcinoma  |  1
HP:0002150  |  Hypercalcinuria  |  1
Disease ID 952
Disease hyperaldosteronism
Manually Symptom
UMLS  | Name(Total Manually Symptoms:15)
C2364118  |  weakness
C1963138  |  hypertension
C1609519  |  adrenal myelolipoma
C1555754  |  cardiovascular disease
C1279412  |  periodic paralysis syndrome
C0334684  |  renal adenoma
C0232197  |  fibrillation
C0220983  |  metabolic alkalosis
C0206635  |  myelolipoma
C0162565  |  acute intermittent porphyria
C0033806  |  pseudohypoparathyroidism
C0020538  |  vascular hypertension
C0020488  |  sodium retention
C0010481  |  hypercortisolism
C0003125  |  anorexia nervosa
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:7)
C0020538  |  hypertension  |  11
C0220983  |  metabolic alkalosis  |  4
C1393529  |  vascular complications  |  1
C0020488  |  sodium retention  |  1
C0334684  |  renal adenoma  |  1
C0001622  |  hypercortisolism  |  1
C0206635  |  myelolipoma  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 952
Disease hyperaldosteronism
Case(Waiting for update.)