DiseaseID 26187
极长链酰基辅酶A脱氢酶缺乏症
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
NCI2016_02D:An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in in
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Disease: 1Symptom: 5Target: 17Links: 29
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26187
- Core Entity Id
- 118755
- Source Entity Count
- 1
- Preferred Name
- Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
- Name Cn
- 极长链酰基辅酶A脱氢酶缺乏症
- Name Pinyin
- Ji Zhang Lian Xian Ji Fu Mei A Tuo Qing Mei Que Fa Zheng
- Name En
- Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
- 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:An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C3887523
Sym Map
SMDE02333
Etcm Disease
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of
Itcmdb Generated
ITX-DISEASE-BF2E53FF52FF
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of Details page
Basic Information
Disease Name
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
NCI2016_02D:An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis.