familial hypocalciuric hypercalcemia
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
endocrine disease |
| gptkbp:diagnosedBy |
calcium creatinine clearance ratio
|
| gptkbp:differentialDiagnosis |
primary hyperparathyroidism
|
| gptkbp:firstDescribed |
1972
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial hypocalciuric hypercalcemia
|
| gptkbp:ICD-10_code |
E83.5
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
CASR gene
|
| gptkbp:OMIM |
145980
|
| gptkbp:otherName |
benign familial hypercalcemia
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
low urinary calcium excretion
mild hypercalcemia normal or mildly elevated parathyroid hormone |
| gptkbp:treatment |
usually no treatment required
|
| gptkbp:bfsParent |
gptkb:CASR
|
| gptkbp:bfsLayer |
7
|