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BIVM-ERCC5
No data
Diseases
Cerebrooculofacioskeletal Syndrome 3
cerebrooculofacioskeletal syndrome 3
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 2
Basic Information
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Core Information
- Disease Name
- Cerebrooculofacioskeletal Syndrome 3
- Standard Disease Name
- cerebrooculofacioskeletal syndrome 3
- MeSH Tree
- No data
- ICD-10
- E71.312
Identifiers
- DO ID
- No data
- MeSH ID
- C537596
- OMIM ID
- 201470
- UMLS ID
- C0342783
- HPO ID
- No data
Description and Extensions
- Description
- 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.
Related
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Related Targets
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