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Pyruvate carboxylase deficiency, severe neonatal type
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Spinocerebellar ataxia type 12
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Combined immunodeficiency due to STK4 deficiency
Dedifferentiated liposarcoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Well-differentiated liposarcoma
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Combined oxidative phosphorylation defect type 4
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Synonym(s):
- Pyruvate carboxylase deficiency type B
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
PC P11498608786
No signs/symptoms info available.