Isovaleric acidemia

Preferred Label : Isovaleric acidemia;

Symbol : IVA;

CISMeF acronym : IVA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Isovaleric acid coa dehydrogenase deficiency; Ivd deficiency;

Description : In the metabolic pathways, isovaleric acidemia is closely related to maple syrup urine disease (248600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the isovaleryl Co-A dehydrogenase gene (IVD, 607036.0001);

Laboratory abnormalities : Isovalericacidemia; Isovalericaciduria; Isovalerylglycinuria; Deficiency of mitochondrial isovaleryl-CoA dehydrogenase in fibroblasts;

Prefixed ID : #243500;

Details

Origin ID

243500;

UMLS CUI

C0268575;

Automatic exact mappings (from CISMeF team)
- Anterior interventricular branch of left coronary artery [FMA entity]
- Isovaleric acidaemia [MedDRA Preferred Term]
- Isovaleric acidemia [MedDRA LLT]
- Isovaleric acidemia [LOINC component]
- Pathologic Stage IVA Esophageal Adenocarcinoma AJCC v8 [NCIt concept]
- Pathologic Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8 [NCIt concept]
- Stage IVA Bladder Cancer AJCC v8 [NCIt concept]
- Stage IVA Cervical Cancer AJCC v8 [NCIt concept]
- Stage IVA Hepatocellular Carcinoma AJCC v8 [NCIt concept]
- Stage IVA Hilar Cholangiocarcinoma AJCC v8 [NCIt concept]
- Stage IVA Prostate Cancer AJCC v8 [NCIt concept]
- Stage IVA Thyroid Gland Papillary Carcinoma AJCC v8 [NCIt concept]
- isovaleric acidemia [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Acidemia, isovaleric [MeSH concept]
- Isovaleric Acidemia [NCIt concept]
- Isovaleric acidemia [PASCAL descriptor]
- Isovaleric acidemia [ORDO Disease]
- Isovaleric aciduria [ICD-11 More detail]
- Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- acidemia, isovaleric [MeSH Supplementary Concept]
- isovaleric acidemia [DO Concept]
- isovaleryl-coa dehydrogenase deficiency [SNOMED Notion]
DO Cross reference
- isovaleric acidemia [DO Concept]
Genes related to phenotype
- Isovaleryl-coa dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cerebellar hemorrhage [HPO term]
- Coma [HPO term]
- Dehydration [HPO term]
- Global developmental delay [HPO term]
- Hyperglycinuria [HPO term]
- Ketoacidosis [HPO term]
- Lethargy [HPO term]
- Leukopenia [HPO term]
- Metabolic acidosis [HPO term]
- Pancytopenia [HPO term]
- Seizure [HPO term]
- Thrombocytopenia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Isovaleric acidemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acidemia, isovaleric [MeSH concept]
- Isovaleric Acidemia [NCIt concept]
- Isovaleric acidaemia [MedDRA Preferred Term]
- Isovaleric acidemia [ORDO Disease]
- Isovaleric acidemia [PASCAL descriptor]
- Isovaleric acidemia [LOINC component]
- Isovaleric acidemia [MedDRA LLT]
- Isovaleric aciduria [ICD-11 More detail]
- Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- acidemia, isovaleric [MeSH Supplementary Concept]
- isovaleric acidemia [DO Concept]
- isovaleryl-coa dehydrogenase deficiency [SNOMED Notion]

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