autosomal dominant hypocalcemia
GPTKB entity
Statements (21)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
calcium homeostasis
|
gptkbp:cause |
low parathyroid hormone levels
|
gptkbp:diagnosedBy |
genetic testing
serum calcium test |
https://www.w3.org/2000/01/rdf-schema#label |
autosomal dominant hypocalcemia
|
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
|