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