Term ID: |
3127 |
Name: |
Hypocalciuria |
Synonym: |
Low urine calcium levels |
Definition: |
An abnormally decreased calcium concentration in the urine. |
Comments: |
|
Reference: |
HP:0003127 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Hypercalciuria (HP:0002150)
| ..Reduced ratio of renal calcium clearance to creatinine clearance (HP:0003513)
| ..Renal calcium wasting (HP:0012637)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | . | | | 6 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | CASR CL E G H | 846 | 1514 | OMIM:145980 | Hypocalciuric hypercalcemia, familial, type I | . | | | 272 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | HP:0040283 - Occasional | | | 27 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | . | | | 3 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | FAM20A CL E G H | 54757 | 23015 | ORPHA:1031 | Enamel-renal syndrome | HP:0040282 - Frequent | | | 16 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | . | | | 17 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | . | | | 16 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040281 - Very frequent | | | 217 | | | HP:0003127 | HP:0003127 | Hypocalciuria | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | . | | | 145 | | |
Genes (10) :AP2S1 CASR CLCNKB CLDN10 FAM20A FXYD2 GNA11 KCNJ10 PHEX SLC12A3
Diseases (10) :OMIM:600740 OMIM:145980 OMIM:607364 OMIM:617671 ORPHA:1031 OMIM:154020 OMIM:145981 OMIM:612780 ORPHA:89936 OMIM:263800 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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