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Phosphoenolpyruvate carboxykinase 1 deficiency
1 OMIM reference -
1 associated gene
29 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Autosomal dominant spastic paraplegia type 13
Baraitser-Winter syndrome
Brody myopathy
Carnitine palmitoyl transferase 1A deficiency
Catecholaminergic polymorphic ventricular tachycardia
Developmental malformations - deafness - dystonia
Familial infantile bilateral striatal necrosis
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Hereditary hyperekplexia
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Immunodeficiency due to an early component of complement deficiency
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Precursor T-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
X-linked sideroblastic anemia - ataxia
Young adult-onset Parkinsonism
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Synonym(s):
- PEPCK1 deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PCK1 P35558614168
No signs/symptoms info available.