Hypocalciuric Hypercalcemia, Type I malady
Categories: Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases
Aliases & Descriptions for Hypocalciuric Hypercalcemia, Type I:
Orphanet epidemiological data:51
familial hypocalciuric hypercalcemia type 1:
Inheritance: Autosomal dominant
hypocalciuric hypercalcemia, type i:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Respiratory diseases, Bone diseases, Endocrine diseases
Rare respiratory diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
OMIM:49 Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an... (145980) more...
MalaCards based summary: Hypocalciuric Hypercalcemia, Type I, also known as fbh1, is related to primary hyperparathyroidism and familial hypocalciuric hypercalcemia, and has symptoms including hypocalciuria, hypercalcemia and hypermagnesemia. An important gene associated with Hypocalciuric Hypercalcemia, Type I is CASR (Calcium Sensing Receptor). Affiliated tissues include bone and liver.
UniProtKB/Swiss-Prot:67 Hypocalciuric hypercalcemia, familial 1: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
Diseases in the Familial Hypocalciuric Hypercalcemia family:
Diseases related to Hypocalciuric Hypercalcemia, Type I via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of diseases related to Hypocalciuric Hypercalcemia, Type I:
Drugs for Hypocalciuric Hypercalcemia, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Hypocalciuric Hypercalcemia, Type I
MalaCards organs/tissues related to Hypocalciuric Hypercalcemia, Type I:33
UniProtKB/Swiss-Prot genetic disease variations for Hypocalciuric Hypercalcemia, Type I:67 (show all 32)
Clinvar genetic disease variations for Hypocalciuric Hypercalcemia, Type I:5 (show all 18)
Search GEO for disease gene expression data for Hypocalciuric Hypercalcemia, Type I.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet