KEGG   DISEASE: Calcium sensing receptor (CASR) related disease
Entry
H00245                      Disease                                
Name
Calcium sensing receptor (CASR) related disease
  Subgroup
Familial hypocalciuric hypercalcemia (FHH1) [DS:H02026]
Familial hypercalciuric hypocalcemia
Neonatal severe hyperparathyroidism (NSHPT) [DS:H02030]
Autosomal dominant hypocalcemia (ADH)
Description
The mutations in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function mutations in the CASR gene are responsible for familial hypocalciuric hypercalcemia (FHH1) and for neonatal severe hyperparathyroidism (NSHPT). FHH1 is caused by homozygous mutations and characterized by benign symptoms with mild hypercalcaemia, whereas NSHPT is caused by homozygous mutations and characterized by more severe ones with severe hypercalcaemia and hyperparathyroid bone disease. Gain-of-function mutations are responsible for autosomal dominant hypocalcemia (ADH) that characterized by seizures in infancy, moderate hypocalcaemia and, absolute hypercalciuria.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H00245  Calcium sensing receptor (CASR) related disease
Pathway
hsa04621  NOD-like receptor signaling pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
Gene
CASR [HSA:846] [KO:K04612]
Other DBs
ICD-11: 5C64.5
ICD-10: E83.5
MeSH: C537145 C563375 C562783
OMIM: 145980 239200 146200 601198
Reference
PMID:18328986
  Authors
Egbuna OI, Brown EM
  Title
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations.
  Journal
Best Pract Res Clin Rheumatol 22:129-48 (2008)
DOI:10.1016/j.berh.2007.11.006
Reference
PMID:11706743
  Authors
Heath DA
  Title
Familial hypocalciuric hypercalcemia.
  Journal
Rev Endocr Metab Disord 1:291-6 (2000)
DOI:10.1023/A:1026566418011
Reference
PMID:11033758
  Authors
Brown EM
  Title
Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium.
  Journal
Endocrinol Metab Clin North Am 29:503-22 (2000)
DOI:10.1016/S0889-8529(05)70148-1
Reference
PMID:11013439
  Authors
Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE
  Title
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
  Journal
Hum Mutat 16:281-96 (2000)
DOI:10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A

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Disease (4)   
   OMIM (4)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (10)   

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