Fanconi-Bickel Syndrome (FBS)

Fanconi-Bickel综合征(来自ICD-11)

别称:

Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency

Lactate Dehydrogenase a Deficiency

Glycogen Storage Disease Xi

Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance

Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency

Hepatic Glycogenosis with Amino Aciduria and Glucosuria

Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency

Hepatorenal Glycogenosis with Renal Fanconi Syndrome

Glycogen Storage Disease Due to Glut2 Deficiency

Hepatic Glycogenosis with Fanconi Nephropathy

Lactate Dehydrogenase Deficiency Type a

Glycogenosis Due to Glut2 Deficiency

Gsd Due to Glut2 Deficiency

Pseudo-Phlorizin Diabetes

Ldh-M Subunit Deficiency

Gsd Xi

Gsd11

Fbs

Glycogenosis with Glucoaminophosphaturia

Storage Disease, Glycogen, Type Xi

Glycogen Storage Disease 11

Glycogenosis, Fanconi Type

Glycogenosis Fanconi Type

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

范可尼-毕克综合症，又称乳酸脱氢酶m亚基缺乏引起的糖原贮积病，与糖原贮积病和新生儿糖尿病有关，症状包括肌肉痉挛、肌肉僵硬和肌肉僵硬。与范可尼-毕克综合症有关的重要基因是SLC2A2（溶质载体家族2成员2），其相关通路/超级通路包括代谢和PI3K-Akt信号通路。附属组织包括肝脏和脾脏，相关表型为生长发育不良和低磷血症

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