neonatal severe hyperparathyroidism
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
newborns
|
| gptkbp:alsoKnownAs |
NSHPT
|
| gptkbp:causedBy |
homozygous inactivating mutations in the calcium-sensing receptor gene (CASR)
|
| gptkbp:complication |
fractures
developmental delay nephrocalcinosis |
| gptkbp:hasLabFinding |
increased alkaline phosphatase
elevated parathyroid hormone (PTH) elevated serum calcium low serum phosphate |
| https://www.w3.org/2000/01/rdf-schema#label |
neonatal severe hyperparathyroidism
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:symptom |
gptkb:hypercalcemia
respiratory distress hypotonia failure to thrive bone demineralization |
| gptkbp:treatment |
gptkb:bisphosphonates
parathyroidectomy calcimimetics |
| gptkbp:bfsParent |
gptkb:CASR
|
| gptkbp:bfsLayer |
7
|