KEGG   DISEASE: Hypoinsulinemic hypoglycemia with hemihypertrophy
エントリ  
H01909                                                             
名称    
Hypoinsulinemic hypoglycemia with hemihypertrophy
概要    
Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) is characterized by hemihypertrophy without any other features of Beckwith-Wiedemann syndrome [DS:H00713] and persistent hypoketotic, hypofattyacidemic hypoinsulinaemic hypoglycemia with no detectable incompletely processed high molecular weight IGF-II precursor proteins or insulin autoantibodies. There is no evidence of increased glucose clearance from the circulation. Patients have been found to carry a de novo mutation in the serine/threonine kinase AKT2.
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
   その他のグルコース調節または膵内分泌の疾患
    5A41  糖尿病を伴わない低血糖症
     H01909  Hypoinsulinemic hypoglycemia with hemihypertrophy
 20 発達異常
  多発性の発達異常または症候群
   LD2C  過(剰)成長症候群
    H01909  Hypoinsulinemic hypoglycemia with hemihypertrophy
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06530  PI3K シグナリング
   H01909  Hypoinsulinemic hypoglycemia with hemihypertrophy
パスウェイ 
hsa04151  PI3K-Akt signaling pathway
ネットワーク
nt06530 PI3K signaling
病因遺伝子 
AKT2 [HSA:208] [KO:K04456]
リンク   
ICD-11: 5A41 LD2C
OMIM: 240900
文献    
  著者
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK
  タイトル
An activating mutation of AKT2 and human hypoglycemia.
  雑誌
Science 334:474 (2011)
DOI:10.1126/science.1210878
文献    
  著者
Hussain K, Bodamer OA, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A
  タイトル
Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.
  雑誌
Horm Res 61:222-7 (2004)
DOI:10.1159/000076553
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