Mitochondria Phenome Knowledgebase

Gene Symbol DLAT
Ensembl ID ENSG00000150768 Entrez 1737
Gene Alias DLTA; PDC-E2; PDCE2 Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position 11q23.1 Subcell PMIDs 3174635
OMIM Gene 608770 Protein Complex Pyruvate dehydrogenase complex (PDH)
Swissprot ID P10515 Swissprot Description Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor
OMIM Disease Primary biliary cirrhosis (PBC) [109720]; Pyruvate dehydrogenase E2 deficiency [245348]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
DLAT 109720 Neoplasms oncologic #16177252
DLAT 109720 Digestive-system-neoplasms oncologic #16177252
DLAT 109720 Hepatocellular-carcinoma elevated incidence of hepatocellular carcinoma among patients with long standing histologically advanced disease oncologic 16177252
DLAT 109720 Musculoskeletal-diseases musculoskeletal #16177252
DLAT 245348 Musculoskeletal-diseases musculoskeletal #2112155
DLAT 109720 Bone-diseases musculoskeletal #16177252
DLAT 109720 Metabolic-bone-diseases osteopenia; bone mineral density reduced musculoskeletal 16177252
DLAT 109720 Osteoporosis musculoskeletal 16177252
DLAT 109720 Pathological-fractures related to osteoporosis musculoskeletal 16177252
DLAT 245348 Craniofacial-abnormalities musculoskeletal #2112155
DLAT 245348 Microcephaly microcephalic musculoskeletal 2112155
DLAT 109720 Digestive-system-diseases gastrointestinal #3174635 #7956610 #8900092 #10807520 #14708897 #16177252
DLAT 109720 Biliary-tract-diseases gastrointestinal #7956610 #8900092 #10807520 #14708897
DLAT 109720 Cholestasis destruction; intraheptic bile ducts; bile acids elevated; cholestatic liver diseases gastrointestinal 7956610 8900092 10807520 14708897
DLAT 109720 Cholangitis non suppurative destructive cholangitis; NSDC; autoimmune cholangitis gastrointestinal 10807520
DLAT 109720 Cholelithiasis gall stones gastrointestinal 8900092
DLAT 109720 Gastrointestinal-diseases gastrointestinal #10807520 #16177252
DLAT 109720 Esophageal-varices bleeding from esophageal varices; variceal hemorrhage gastrointestinal 10807520 16177252
DLAT 109720 Liver-diseases autoimmune; inflammation; hepatic failure; scarring; portal hypertension; nodular regenerative hyperplasia; liver damage; liver fibrosis gastrointestinal 3174635 7956610 8900092 10807520 #14708897 #16177252
DLAT 109720 Liver-cirrhosis primary cirrhosis; biliary cirrhosis; primary biliary cirrhosis gastrointestinal 3174635 7956610 8900092 10807520 14708897 16177252
DLAT 109720 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 8900092 16177252
DLAT 109720 Hepatomegaly gastrointestinal 8900092 16177252
DLAT 245348 Respiratory-tract-diseases respiratory #2112155
DLAT 245348 Respiration-disorders respiratory distress respiratory 2112155
DLAT 245348 Nervous-system-diseases neurologic #2112155 #16049940
DLAT 245348 Central-nervous-system-diseases neurologic #16049940
DLAT 245348 Brain-diseases neurologic #16049940
DLAT 245348 Seizures arching of the body; eye rolling; wrist flexions; feet inversions neurologic 16049940
DLAT 245348 Movement-disorders involuntary movements; tics; jerky head movements; incoordination neurologic 16049940
DLAT 245348 Choreatic-disorders choreoathetoid movements neurologic 16049940
DLAT 245348 Dystonic-disorders paroxysmal; episodes; face; hands; feet; chlenching of hands; stress triggered neurologic 16049940
DLAT 245348 Athetosis choreoathetoid movements neurologic 16049940
DLAT 245348 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; globus pallidus abnormal; basal ganglia abnormal neurologic 16049940
DLAT 245348 Neurologic-manifestations neurologic #16049940
DLAT 245348 Ataxia neurologic 16049940
DLAT 245348 Developmental-delay psychomotor retardation; coordination neurologic 2112155 16049940
DLAT 245348 Neuromuscular-manifestations neurologic #16049940
DLAT 245348 Muscle-hypotonia floppy; generalized neurologic 16049940
DLAT 245348 Reflexes-abnormal neurologic #16049940
DLAT 245348 Hyperreflexia brisk; deep tendon reflexes abnormal; recruitment upper limbs neurologic 16049940
DLAT 245348 Eye-diseases ophthalmologic #16049940
DLAT 245348 Blepharoptosis mild ptosis; intermittend ophthalmologic 16049940
DLAT 245348 Ocular-motility-disorders reduced; eye movements abnormal; saccade initiation failure; oculomotor apraxia ophthalmologic 16049940
DLAT 245348 Pathologic-nystagmus pendular nystagmus ophthalmologic 16049940
DLAT 245348 Strabismus intermittent strabismus; convergent; squint; full abduction ophthalmologic 16049940
DLAT 109720 Hematologic-diseases hematologic #8900092
DLAT 109720 Blood-protein-disorders hematologic #8900092
DLAT 109720 Dysgammaglobulinemia IGG decreased; IGM increased; autoantibodies; hypersensitivity delayed; T cell regulation abnormal; B cell regulation abnormal hematologic 8900092
DLAT 109720 Lymphatic-diseases lymphnodes abnormal; benign reactive hyperplasia; lymphnodes enlarged; porta hepatis lymphnodes; bile duct lymphnodes; mesentery lymphnodes; supradiaphragmatic lymphnodes; paracardiac lymphnodes hematologic 8900092
DLAT 109720 Granuloma granulomas; liver; lymph nodes hematologic 8900092
DLAT 109720 Skin-diseases itching; dermatosclerosis dermatologic 8900092 #10807520 16177252
DLAT 109720 Pruritus itching; excoriations; bleeding; scarring dermatologic 8900092 10807520 16177252
DLAT 109720 Xanthomatosis xanthelasmas; xanthomas at late stage dermatologic 8900092 16177252
DLAT 109720 Metabolic-diseases metabolic #7956610 #8900092 #16177252
DLAT 245348 Metabolic-diseases metabolic #2112155 #16049940
DLAT 245348 Acid-base-imbalance metabolic #2112155 #16049940
DLAT 245348 Acidosis lactic acidosis; CSF lactate metabolic 2112155 16049940
DLAT 245348 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; lentiform nuclei abnormal; dorsal midbrain abnormal; cortex abnormal metabolic 16049940
DLAT 109720 Dyslipidemias metabolic #8900092 #16177252
DLAT 109720 Hyperlipidemia metabolic #8900092 #16177252
DLAT 109720 Hypercholesterolemia cholesterol elevated; hypercholesterolemia; LDL elevated; HDL elevated; hyperlipidemia metabolic 8900092 16177252
DLAT 245348 Hyperammonemia ammonia levels elevated metabolic 2112155
DLAT 109720 Hyperbilirubinemia normal; elevated; jaundice metabolic 7956610 8900092 16177252
DLAT 109720 Endocrine-system-diseases endocrinologic #16177252
DLAT 109720 Thyroid-diseases endocrinologic #16177252
DLAT 109720 Hypothyroidism endocrinologic 16177252
DLAT 109720 Immune-system-diseases immunologic #3174635 #8900092 #10807520 #14708897 #16177252
DLAT 109720 Autoimmune-diseases antimitochondrial antibodies; autoantibodies; DLAT autoantigen immunologic 3174635 8900092 10807520 14708897 16177252
DLAT 109720 Immune-deficiency humoral immune system abnormalities; cellular immune system abnormalities; negative delayed hypersensitivity skin test; autoimmune disease immunologic 8900092
DLAT 109720 Exercise-intolerance fatigue miscellaneous 8900092 10807520 16177252
DLAT 109720 Splenomegaly portal hypertension related; late stage miscellaneous 8900092 16177252
DLAT 245348 Salivary-gland-diseases miscellaneous #16049940
DLAT 245348 Sialorrhea drooling; constant drooling miscellaneous 16049940
DLAT 109720 Alkaline-phosphatase-abnormal elevated; serum miscellaneous 7956610 8900092 16177252
DLAT 109720 Ceruloplasmin-levels-abnormal elevated; serum miscellaneous 8900092
DLAT 109720 Copper-levels-abnormal elevated; hepatic copper levels increased miscellaneous 7956610 8900092
DLAT 245348 PDH-deficiency fibroblast miscellaneous 16049940
DLAT 245348 Vitamin-responsive thiamine; vitamin B1 miscellaneous 16049940

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons