Hypocalcemia, Autosomal Dominant malady
Categories: Genetic diseases, Rare diseases, Endocrine diseases
Aliases & Descriptions for Hypocalcemia, Autosomal Dominant:
Orphanet epidemiological data:51
autosomal dominant hypocalcemia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy
hypocalcemia, autosomal dominant:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases
Rare endocrine diseases
OMIM:49 Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH).... (601198) more...
MalaCards based summary: Hypocalcemia, Autosomal Dominant, also known as hypocalcemia, autosomal dominant 1, is related to hypocalcemia, autosomal dominant 2 and inappropriate adh syndrome, and has symptoms including behavioral abnormality, flexion contracture and hypercalciuria. An important gene associated with Hypocalcemia, Autosomal Dominant is CASR (Calcium Sensing Receptor), and among its related pathways are Development A2B receptor- action via G-protein alpha s and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include kidney, skin and bone, and related mouse phenotypes are pigmentation and muscle.
UniProtKB/Swiss-Prot:67 Hypocalcemia, autosomal dominant 1: A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia.
Genetics Home Reference:23 Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.
Symptoms by clinical synopsis from OMIM:601198
Clinical features from OMIM:601198
Symptoms:51 (show all 26)
HPO human phenotypes related to Hypocalcemia, Autosomal Dominant:(show all 37)
UMLS symptoms related to Hypocalcemia, Autosomal Dominant:carpopedal spasm, seizures, muscle cramp
Drugs for Hypocalcemia, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
Search NIH Clinical Center for Hypocalcemia, Autosomal Dominant
MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant:33
Kidney, Skin, Bone, Heart, Thyroid, Liver, Prostate
UniProtKB/Swiss-Prot genetic disease variations for Hypocalcemia, Autosomal Dominant:67 (show all 21)
Clinvar genetic disease variations for Hypocalcemia, Autosomal Dominant:5 (show all 22)
Search GEO for disease gene expression data for Hypocalcemia, Autosomal Dominant.
Pathways related to Hypocalcemia, Autosomal Dominant according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet