| H01909 | |
| H番号 | 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 |
| ネットワーク | nt06530(H01909) PI3K signaling |
| 病因遺伝子 | AKT2 [HSA:208] [KO:K04456] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A41 LD2C OMIM: 240900 |
| 文献 | PMID:21979934 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 PMID:14764948 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 |