Pyruvate dehydrogenase e3-binding protein deficiency

Preferred Label : Pyruvate dehydrogenase e3-binding protein deficiency;

Symbol : PDHXD;

CISMeF acronym : PDHXD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lactic acidemia due to defect in lipoyl-containing component X of the pyruvate dehydrogenase complex;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the component X gene of the pyruvate dehydrogenase complex (PDHX, 608769.0001);

Laboratory abnormalities : Lacticacidemia; Increased serum pyruvate; Increased serum alanine; Decreased levels of component X protein of the PDH complex; Decreased activity of the pyruvate dehydrogenase (PDH) complex;

Prefixed ID : #245349;

Details

Origin ID

245349;

UMLS CUI

C1855553;

Automatic exact mappings (from CISMeF team)
- PDHX wt Allele [NCIt concept]
Broader ORDO disease(s)
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex E3-binding protein deficiency [ICD-11 More detail]
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH concept]
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH Supplementary Concept]
DO Cross reference
- pyruvate decarboxylase deficiency [DO Concept]
Genes related to phenotype
- Pyruvate dehydrogenase complex, component X [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Dystonia [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperalaninemia [HPO term]
- Hypertelorism [HPO term]
- Increased serum pyruvate [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Optic atrophy [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Pectus excavatum [HPO term]
- Poor fine motor coordination [HPO term]
- Poor gross motor coordination [HPO term]
- Seizure [HPO term]
- Spastic paraplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Subependymal cysts [HPO term]
- Trigonocephaly [HPO term]
- Unsteady gait [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex E3-binding protein deficiency [ICD-11 More detail]
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH Supplementary Concept]
- pyruvate dehydrogenase E3-Binding protein deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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