autosomal dominant hypocalcemia
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
calcium homeostasis
|
| gptkbp:cause |
low parathyroid hormone levels
|
| gptkbp:diagnosedBy |
genetic testing
serum calcium test |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
CASR gene
GNA11 gene |
| gptkbp:OMIM |
601198
615361 |
| gptkbp:symptom |
seizures
muscle cramps hypocalcemia paresthesia tetany |
| gptkbp:synonym |
gptkb:ADH
|
| gptkbp:treatment |
active vitamin D analogs
calcium supplements |
| gptkbp:bfsParent |
gptkb:CASR
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal dominant hypocalcemia
|