Mitochondrial complex I deficiency, nuclear type 20

Preferred Label : Mitochondrial complex I deficiency, nuclear type 20;

Symbol : MC1DN20;

CISMeF acronym : MC1DN20;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acad9 deficiency; Acyl-coa dehydrogenase 9 deficiency; Mitochondrial complex I deficiency due to acad9 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acyl-CoA dehydrogenase-9 gene (ACAD9, 611103.0001);

Laboratory abnormalities : Hypoglycemia; Elevated plasma ammonia; Elevated liver transaminases; Elevated serum lactate; Elevated lactate dehydrogenase; Elevated prothrombin time; Hypoketotic dicarboxylic aciduria (in some patients); Elevated long-chain acylcarnitine species (in some patients);

Prefixed ID : #611126;

Details

Origin ID

611126;

UMLS CUI

C4747517;

Currated CISMeF NLP mapping
- ACAD9 deficiency [MedDRA Preferred Term]
- Acyl-CoA dehydrogenase 9 deficiency [ORDO Disease]
- Acyl-CoA dehydrogenase family, member 9, deficiency of [MeSH concept]
- Acyl-CoA dehydrogenase family, member 9, deficiency of [MeSH Supplementary Concept]
- Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder) [SNOMED CT concept]
- acyl-CoA dehydrogenase 9 deficiency [Artificial nutrition thesaurus concept]
- nuclear type mitochondrial complex I deficiency 20 [DO Concept]
Genes related to phenotype
- Acyl-coa dehydrogenase family, member 9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral edema [HPO term]
- Congestive heart failure [HPO term]
- Dicarboxylic aciduria [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated hepatic transaminase [HPO term]
- Encephalopathy [HPO term]
- Exercise intolerance [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic failure [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Lactic acidosis [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Muscle weakness [HPO term]
- Stroke [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Acyl-CoA dehydrogenase 9 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acyl-CoA dehydrogenase 9 deficiency [ORDO Disease]
- Acyl-CoA dehydrogenase family, member 9, deficiency of [MeSH Supplementary Concept]
- Acyl-CoA dehydrogenase family, member 9, deficiency of [MeSH concept]

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