Combined oxidative phosphorylation deficiency 52

Preferred Label : Combined oxidative phosphorylation deficiency 52;

Symbol : COXPD52;

Type : Phenotype, molecular basis known;

Prefixed ID : #619386;

Détails

Origin ID

619386;

UMLS CUI

C5543592;

Genes related to phenotype
- Nfs1 cysteine desulfurase 1 [OMIM gene]
HPO term(s)
- Adrenal insufficiency [HPO term]
- Aminoaciduria [HPO term]
- Anorexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Decreased activity of mitochondrial complex II [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Disseminated intravascular coagulation [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hepatic steatosis [HPO term]
- Hyperalaninemia [HPO term]
- Hyperamylasemia [HPO term]
- Hyperglycinemia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Lacticaciduria [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Pancreatitis [HPO term]
- Renal insufficiency [HPO term]
- Respiratory failure [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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