DiseaseID 26605
短链酰基辅酶A脱氢酶缺乏症
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of i
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Disease: 1Formula: 5Symptom: 9Target: 18Links: 38
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26605
- Core Entity Id
- 119173
- Source Entity Count
- 1
- Preferred Name
- Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
- Name Cn
- 短链酰基辅酶A脱氢酶缺乏症
- Name Pinyin
- Duan Lian Xian Ji Fu Mei A Tuo Qing Mei Que Fa Zheng
- Name En
- Acyl-Coa Dehydrogenase, Short-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:A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma.|NCI2016_02D:A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0342783
Icd10
E71.312
Sym Map
SMDE04282
Etcm Disease
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of
Itcmdb Generated
ITX-DISEASE-88B9C2E9694F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of Details page
Basic Information
Disease Name
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma.|NCI2016_02D:A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive.