eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pseudohypoaldosteronism type 2 | ||||
| Disease ID | 1115 |
|---|---|
| Disease | pseudohypoaldosteronism type 2 |
| Definition | Autosomal dominant syndrome of renal electrolyte transport dysfunctions. The clinical features include salt-sensitive hypertension, renal HYPERKALEMIA without sodium wasting, normal glomerular filtration rate and metabolic acidosis (hyperchloremic acidemia and HYPERCALCIURIA). Wnk1 and Wnk4 mutations are responsible for the disorder. |
| Synonym | gordon hyperkalaemia-hypertension syndrome gordon hyperkalemia hypertension syndrome gordon hyperkalemia-hypertension syndrome hyperkalemia-hypertension syndrome, gordon pseudohypoaldosteronism type 2s pseudohypoaldosteronism type ii pseudohypoaldosteronism type iis pseudohypoaldosteronism, type 2 pseudohypoaldosteronism, type 2 (disorder) pseudohypoaldosteronism, type ii pseudohypoaldosteronisms, type ii syndrome, gordon hyperkalemia-hypertension type ii pseudohypoaldosteronism type ii pseudohypoaldosteronisms type ii, pseudohypoaldosteronism type iis, pseudohypoaldosteronism |
| Orphanet | |
| OMIM | |
| UMLS | C1449844 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1115 |
|---|---|
| Disease | pseudohypoaldosteronism type 2 |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0007215 | Periodic hyperkalemic paralysis HP:0002153 | Elevated serum potassium levels HP:0000682 | Abnormality of dental enamel HP:0001324 | Muscle weakness HP:0008242 | Pseudohypoaldosteronism HP:0004322 | Short stature HP:0000822 | Hypertension HP:0002017 | Nausea and vomiting HP:0000164 | Abnormality of the teeth HP:0003768 | Periodic paralysis HP:0001995 | Hyperchloremic acidosis HP:0002153 | Hyperkalemia HP:0001510 | Growth delay |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1115 |
|---|---|
| Disease | pseudohypoaldosteronism type 2 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:40) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853095 | 23054253 | 65266 | WNK4 | umls:C1449844 | BeFree | The R1185C mutation in WNK4 is associated with pseudohypoaldosteronism type II (PHAII). | 0.007328931 | 2013 | WNK4 | 17 | 42796244 | C | T |
| rs199469623 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137709761 | G | T,A |
| rs199469624 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137709759 | T | C,A |
| rs199469625 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137698396 | T | G |
| rs199469626 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137692320 | C | A |
| rs199469627 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137639955 | T | C |
| rs199469628 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137639862 | G | A |
| rs199469629 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137639021 | C | T |
| rs199469630 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137639012 | A | G |
| rs199469631 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137637320 | C | T |
| rs199469632 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137637317 | C | T |
| rs199469633 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137628408 | C | T |
| rs199469634 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137628387 | G | T |
| rs199469635 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137628306 | G | A |
| rs199469636 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137628305 | C | T |
| rs199469637 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137692381 | G | A |
| rs199469638 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137661950 | G | A |
| rs199469639 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137639916 | A | C |
| rs199469640 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137639874 | C | A |
| rs199469641 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137637386 | G | A |
| rs199469642 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137637335 | A | G |
| rs199469643 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137637323 | C | T |
| rs199469644 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137634077 | C | T |
| rs199469645 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137625818 | T | C |
| rs199469646 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137625765 | G | A |
| rs199469647 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137661947 | G | - |
| rs199469648 | NA | 26249 | KLHL3 | umls:C1449844 | CLINVAR | NA | 0.121357209 | NA | KLHL3 | 5 | 137661914 | C | T |
| rs199469649 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503850 | A | C |
| rs199469650 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503848 | T | C |
| rs199469651 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503834 | A | C |
| rs199469652 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503827 | A | T |
| rs199469653 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503825 | G | A |
| rs199469654 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503823 | C | T |
| rs199469655 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503793 | C | T |
| rs199469656 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503791 | T | C |
| rs199469657 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503648 | TTACCT | - |
| rs199469658 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503653 | T | C |
| rs199469659 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503652 | - | C |
| rs199469660 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503651 | C | G |
| rs199469661 | NA | 8452 | CUL3 | umls:C1449844 | CLINVAR | NA | 0.121628651 | NA | CUL3 | 2 | 224503649 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0001995 | Hyperchloremic acidosis | MP:0003031 | acidosis | a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the b |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0000682 | Abnormality of dental enamel | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008242 | Pseudohypoaldosteronism | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0007215 | Periodic hyperkalemic paralysis | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003768 | Periodic paralysis | MP:0013723 | increased circulating tyrosine level | the amount of the amino acid histidine in the blood is more than expected |
| HP:0001995 | Hyperchloremic acidosis | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002153 | Hyperkalemia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| Disease ID | 1115 |
|---|---|
| Disease | pseudohypoaldosteronism type 2 |
| Case | (Waiting for update.) |