DiseaseID 26513
果糖-1,6-二磷酸酶缺乏症
Fructose-1,6-Bisphosphatase Deficiency
MSH2017_2016_08_12:An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e
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Disease: 1Symptom: 9Target: 12Links: 21
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26513
- Core Entity Id
- 119081
- Source Entity Count
- 1
- Preferred Name
- Fructose-1,6-Bisphosphatase Deficiency
- Name Cn
- 果糖-1,6-二磷酸酶缺乏症
- Name Pinyin
- Guo Tang -1,6- Er Lin Suan Mei Que Fa Zheng
- Name En
- Fructose-1,6-Bisphosphatase Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- MSH2017_2016_08_12:An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Fructose-1,6-Bisphosphatase Deficiency
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0016756
Icd10
E74.19
Sym Map
SMDE03832
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
MSH2017_2016_08_12:An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.