Familial hypocalciuric hypercalcemia type 2
GPTKB entity
Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:causedBy |
mutation in GNA11 gene
|
| gptkbp:containsGene |
gptkb:GNA11
|
| gptkbp:differentialDiagnosis |
primary hyperparathyroidism
|
| gptkbp:firstDescribed |
2011
|
| https://www.w3.org/2000/01/rdf-schema#label |
Familial hypocalciuric hypercalcemia type 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
145981
|
| gptkbp:symptom |
low urinary calcium excretion
mild hypercalcemia normal or mildly elevated parathyroid hormone |
| gptkbp:treatment |
usually no treatment required
|
| gptkbp:bfsParent |
gptkb:GNA11
|
| gptkbp:bfsLayer |
7
|