H01909 | |
H number | H01909 |
Name | Hypoinsulinemic hypoglycemia with hemihypertrophy |
Description | 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. |
Category | Inherited metabolic disorder |
Network | nt06530(H01909) PI3K signaling |
Gene | AKT2 [HSA:208] [KO:K04456] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5A41 LD2C OMIM: 240900 |
Reference | PMID:21979934 AUTHORS 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 TITLE An activating mutation of AKT2 and human hypoglycemia. JOURNAL Science 334:474 (2011) DOI:10.1126/science.1210878 PMID:14764948 AUTHORS Hussain K, Bodamer OA, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A TITLE Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. JOURNAL Horm Res 61:222-7 (2004) DOI:10.1159/000076553 |