KEGG   DISEASE: Familial hypocalciuric hypercalcemia
Entry
H02026                      Disease                                
Name
Familial hypocalciuric hypercalcemia
  Supergrp
Calcium sensing receptor (CASR) related disease [DS:H00245]
Description
Familial hypocalciuric hypercalcemia (HHC), an autosomal dominant disorder, is characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion. HHC is a genetically heterogeneous disorder with three variants. HHC1 is due to loss-of-function mutations of the calcium-sensing receptor. HHC2 is due to mutations in GNA11. HHC3 is associated with AP2S1 mutations, which result in altered calcium-sensing receptor endocytosis.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the parathyroids or parathyroid hormone system
    5A51  Hyperparathyroidism
     H02026  Familial hypocalciuric hypercalcemia
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa04020  Calcium signaling pathway
hsa04961  Endocrine and other factor-regulated calcium reabsorption
Gene
(HHC1) CASR [HSA:846] [KO:K04612]
(HHC2) GNA11 [HSA:2767] [KO:K04635]
(HHC3) AP2S1 [HSA:1175] [KO:K11827]
Other DBs
ICD-11: 5A51.2
MeSH: D006934
OMIM: 145980 145981 600740
Reference
PMID:7673400
  Authors
Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T
  Title
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
  Journal
J Clin Endocrinol Metab 80:2594-8 (1995)
DOI:10.1210/jcem.80.9.7673400
Reference
PMID:23802516
  Authors
Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV
  Title
Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia.
  Journal
N Engl J Med 368:2476-2486 (2013)
DOI:10.1056/NEJMoa1300253
Reference
PMID:23222959
  Authors
Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV
  Title
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
  Journal
Nat Genet 45:93-7 (2013)
DOI:10.1038/ng.2492
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