Cytoscape Web
Click node...

Oxoglutaricaciduria
1 OMIM reference -
1 associated gene
11 connected diseases
10 signs/symptoms
Disease Type of connection
Leigh syndrome with nephrotic syndrome
Pyruvate dehydrogenase E3 deficiency
Dedifferentiated liposarcoma
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Well-differentiated liposarcoma
Pyruvate dehydrogenase E2 deficiency
Leigh syndrome with cardiomyopathy
Postaxial acrofacial dysostosis
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Synonym(s):
- Alpha-ketoglutarate dehydrogenase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536582
Gene symbol UniProt reference OMIM reference
OGDH Q02218613022
Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Organic acid metabolism anomalies
- Short stature / dwarfism / nanism

Frequent
- Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct
- Hydrocephaly
- Movement disorder