Hypocalciuric Hypercalcemia, Type I malady
Categories: Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases, Metabolic diseases
Aliases & Descriptions for Hypocalciuric Hypercalcemia, Type I:
Orphanet epidemiological data:53
fhh type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (United Kingdom); Age of onset: All ages; Age of death: normal life expectancy
hypocalciuric hypercalcemia, type i:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases, Metabolic diseases
Anatomical: Respiratory diseases, Bone diseases, Endocrine diseases
ICD10: 30 29
Rare respiratory diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
OMIM:51 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 familial benign hypercalcemia 1, is related to hyperparathyroidism, familial primary and hyperparathyroidism, and has symptoms including nephrolithiasis, hyperparathyroidism and pancreatitis. An important gene associated with Hypocalciuric Hypercalcemia, Type I is CASR (Calcium Sensing Receptor). Affiliated tissues include liver and bone.
Disease Ontology:11 A familial hypocalciuric hypercalcemia that has material basis in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
UniProtKB/Swiss-Prot:69 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:
Human phenotypes related to Hypocalciuric Hypercalcemia, Type I:63 (show all 6)
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:35
Search GEO for disease gene expression data for Hypocalciuric Hypercalcemia, Type I.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet