KEGG   DISEASE: 家族性低カルシウム尿性高カルシウム血症
エントリ  
H02026                                                             
名称    
家族性低カルシウム尿性高カルシウム血症
  上位グループ
カルシウム感知受容体 (CASR) 異常症 [DS:H00245]
概要    
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.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   副甲状腺または副甲状腺ホルモン系の疾患
    5A51  副甲状腺機能亢進症
     H02026  家族性低カルシウム尿性高カルシウム血症
パスウェイ 
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa04020  Calcium signaling pathway
hsa04961  Endocrine and other factor-regulated calcium reabsorption
病因遺伝子 
(HHC1) CASR [HSA:846] [KO:K04612]
(HHC2) GNA11 [HSA:2767] [KO:K04635]
(HHC3) AP2S1 [HSA:1175] [KO:K11827]
リンク   
ICD-11: 5A51.2
MeSH: D006934
OMIM: 145980 145981 600740
文献    
PMID:7673400
  著者
Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T
  タイトル
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
  雑誌
J Clin Endocrinol Metab 80:2594-8 (1995)
DOI:10.1210/jcem.80.9.7673400
文献    
PMID:23802516
  著者
Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV
  タイトル
Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia.
  雑誌
N Engl J Med 368:2476-2486 (2013)
DOI:10.1056/NEJMoa1300253
文献    
PMID:23222959
  著者
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
  タイトル
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
  雑誌
Nat Genet 45:93-7 (2013)
DOI:10.1038/ng.2492
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