Term ID: |
128 |
Name: |
Renal potassium wasting |
Synonym: |
Renal K wasting |
Definition: |
High urine potassium in the presence of hypokalemia. |
Comments: |
|
Reference: |
HP:0000128 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Decreased urinary potassium (HP:0012364)
| ..Increased urinary potassium (HP:0003081)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | . | | | 4 | | | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | ATP1A1 CL E G H | 476 | 799 | ORPHA:564178 | Primary hypomagnesemia with refractory seizures and intellectual disability | HP:0040282 - Frequent | | | 4 | | | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040283 - Occasional | | | 27 | | | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | . | | | 145 | | | HP:0000128 | HP:0000128 | Renal potassium wasting | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040283 - Occasional | | | 145 | | |
Genes (6) :ATP1A1 CLCNKB KCNJ1 KCNJ10 SLC12A1 SLC12A3
Diseases (8) :OMIM:618314 ORPHA:564178 OMIM:607364 ORPHA:358 OMIM:241200 OMIM:612780 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.
|
|