Propionic acidemia

Preferred Label : Propionic acidemia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Pcc deficiency; Ketotic hyperglycinemia; Propionyl-coa carboxylase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the propionyl Coenzyme A carboxylase, alpha polypeptide gene (PCCA, 232000.0001); Caused by mutation in the propionyl Coenzyme A carboxylase, beta polypeptide gene (PCCB, 232050.0001);

Laboratory abnormalities : Hyperammonemia; Lactic acidosis; Elevated propionate; Elevated 3-hydroxypropionic acid; Elevated 3-methylcitric acid; Hyperglycinemia; Hyperglycinuria; Serum carnitine deficiency; Propionyl-CoA carboxylase deficiency; Hypoglycemia;

Prefixed ID : #606054;

Détails

Origin ID

606054;

UMLS CUI

C0268579;

Automatic exact mappings (from CISMeF team)
- Ketotic glycinemia [MedDRA LLT]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- Propionic acidaemia [MedDRA LLT]
- Propionic acidemia [MedDRA LLT]
- Propionyl-CoA carboxylase deficiency [MedDRA LLT]
- hyperglycinemia, nonketotic [MeSH Descriptor]
- propionic acidemia [Artificial nutrition thesaurus concept]
- propionyl-coa carboxylase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Propionic Acidemia [NCIt concept]
- Propionic acidemia [ORDO Disease]
- Propionic acidemia [HPO term]
- Propionic acidemia (disorder) [SNOMED CT concept]
- Propionic aciduria [ICD-11 More detail]
- Propionyl-CoA carboxylase deficiency [HPO term]
- propionic acidemia [DO Concept]
- propionic acidemia [Disease (Nov.)]
- propionic acidemia [MeSH Descriptor]
- propionic acidemia [MeSH concept]
- propionic acidemia, nos [SNOMED Notion]
- propionicaciduria [MeSH concept]
DO Cross reference
- propionic acidemia [DO Concept]
Genes related to phenotype
- Propionyl-coa carboxylase, alpha subunit [OMIM gene]
- Propionyl-coa carboxylase, beta subunit [OMIM gene]
HPO term(s)
- Acute encephalopathy [HPO term]
- Anemia [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar hemorrhage [HPO term]
- Cerebral atrophy [HPO term]
- Coma [HPO term]
- Constipation [HPO term]
- Dehydration [HPO term]
- Dystonia [HPO term]
- Eczema [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hyperglycinemia [HPO term]
- Hyperglycinuria [HPO term]
- Hypoglycemia [HPO term]
- Increased level of hippuric acid in urine [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Limb hypertonia [HPO term]
- Metabolic acidosis [HPO term]
- Neutropenia [HPO term]
- Osteoporosis [HPO term]
- Pancreatitis [HPO term]
- Pancytopenia [HPO term]
- Poor appetite [HPO term]
- Propionyl-CoA carboxylase deficiency [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Tachypnea [HPO term]
- Thrombocytopenia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Propionic acidemia [ORDO Disease]
See also inter- (CISMeF)
- Deficiency of propionyl-coenzyme A carboxylase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ketotic glycinaemia [MedDRA LLT]
- Ketotic glycinemia [MedDRA LLT]
- Propionic Acidemia [NCIt concept]
- Propionic acidaemia [MedDRA LLT]
- Propionic acidaemia [MedDRA Preferred Term]
- Propionic acidemia [ORDO Disease]
- Propionic acidemia [HPO term]
- Propionic acidemia [MedDRA LLT]
- Propionic acidemia (disorder) [SNOMED CT concept]
- Propionic aciduria [ICD-11 More detail]
- Propionyl-CoA carboxylase deficiency [HPO term]
- propionic acidemia [MeSH Descriptor]
- propionic acidemia [MeSH concept]
- propionic acidemia [DO Concept]
- propionic acidemia [Disease (Nov.)]
- propionic acidemia, nos [SNOMED Notion]
- propionyl-coa carboxylase deficiency [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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