Pyruvate Dehydrogenase Phosphatase Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases
Aliases & Descriptions for Pyruvate Dehydrogenase Phosphatase Deficiency:
Orphanet epidemiological data:53
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:69 Pyruvate dehydrogenase phosphatase deficiency: Results in lactic acidosis leading to neurological dysfunction.
MalaCards based summary: Pyruvate Dehydrogenase Phosphatase Deficiency, also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency, is related to lactic acidosis, and has symptoms including nystagmus, intellectual disability and seizures. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1). Affiliated tissues include brain.
Wikipedia:70 Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is... more...
Description from OMIM:51 608782
Diseases related to Pyruvate Dehydrogenase Phosphatase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Pyruvate Dehydrogenase Phosphatase Deficiency:63 (show all 9)
UMLS symptoms related to Pyruvate Dehydrogenase Phosphatase Deficiency:seizures, gait ataxia
MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:35
Articles related to Pyruvate Dehydrogenase Phosphatase Deficiency:
Clinvar genetic disease variations for Pyruvate Dehydrogenase Phosphatase Deficiency:5
Search GEO for disease gene expression data for Pyruvate Dehydrogenase Phosphatase Deficiency.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet