DiseaseID 26744
甘油激酶缺乏症
Glycerol Kinase Deficiency
NCI2016_02D:A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasm
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Disease: 1Formula: 12Symptom: 7Target: 19Links: 43
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26744
- Core Entity Id
- 119312
- Source Entity Count
- 1
- Preferred Name
- Glycerol Kinase Deficiency
- Name Cn
- 甘油激酶缺乏症
- Name Pinyin
- Gan You Ji Mei Que Fa Zheng
- Name En
- Glycerol Kinase 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
- NCI2016_02D:A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children.|JABL99:Deficiency of glycerol kinase (adenosine triphosphate:glycerol 3-phosphotransferase) associated with psychomotor retardation, osteoporosis, spasticity, esotropia, and bone fractures.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glycerol Kinase Deficiency
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268418
Sym Map
SMDE04809
Etcm Disease
Glycerol Kinase Deficiency
Itcmdb Generated
ITX-DISEASE-DBEF96B63621
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Glycerol Kinase Deficiency Details page
Basic Information
Disease Name
Glycerol Kinase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Nephrological diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children.|JABL99:Deficiency of glycerol kinase (adenosine triphosphate:glycerol 3-phosphotransferase) associated with psychomotor retardation, osteoporosis, spasticity, esotropia, and bone fractures.