MCID: LCT001
MIFTS: 50

Lactic Acidosis

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Lactic Acidosis

MalaCards integrated aliases for Lactic Acidosis:

Name: Lactic Acidosis 12 29 6 15 17
Acidosis, Lactic 44 70
Acidosis Lactic 54

Classifications:



External Ids:

Disease Ontology 12 DOID:3650
MeSH 44 D000140
NCIt 50 C98969
SNOMED-CT 67 91273001
ICD10 32 E87.2
UMLS 70 C0001125

Summaries for Lactic Acidosis

Disease Ontology : 12 A metabolic acidosis characterized by buildup of lactate.

MalaCards based summary : Lactic Acidosis, also known as acidosis, lactic, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and myopathy, lactic acidosis, and sideroblastic anemia 1. An important gene associated with Lactic Acidosis is NDUFS4 (NADH:Ubiquinone Oxidoreductase Subunit S4), and among its related pathways/superpathways are Metabolism and Pathways of neurodegeneration - multiple diseases. The drugs Stavudine and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and kidney.

Wikipedia : 73 Lactic acidosis is a medical condition characterized by the buildup of lactate (especially L-lactate) in... more...

Related Diseases for Lactic Acidosis

Diseases in the Lactic Acidosis family:

Lactic Acidosis, Chronic Adult Form Lactic Acidosis Congenital Infantile

Diseases related to Lactic Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 697)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 33.6 YARS2 MT-ND5 MT-ND4 MT-ND1 MT-ATP6 LARS2
2 myopathy, lactic acidosis, and sideroblastic anemia 1 33.6 YARS2 PUS1 MT-ATP6
3 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 33.5 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
4 myopathy, lactic acidosis, and sideroblastic anemia 2 33.5 YARS2 PUS1 MT-ATP6
5 myopathy, lactic acidosis, and sideroblastic anemia 3 33.4 YARS2 PUS1 MT-ATP6
6 mitochondrial dna depletion syndrome 9 33.3 SUCLG1 NDUFS4 MT-ND1
7 pyruvate dehydrogenase e1-alpha deficiency 33.3 PDHX PDHA1 PC
8 myopathy, lactic acidosis, and sideroblastic anemia 33.2 YARS2 PUS1 MT-ATP6
9 mitochondrial complex iv deficiency, nuclear type 5 33.1 UQCRFS1 MT-ATP6 ATP5F1A
10 pearson marrow-pancreas syndrome 32.6 YARS2 SUCLG1 PUS1 MT-ND4 MT-ATP6
11 mitochondrial complex i deficiency, nuclear type 1 32.5 UQCRFS1 SUCLG1 PDHA1 NDUFS4 NDUFA13 MT-ND4
12 mitochondrial disorders 32.5 YARS2 PUS1 NDUFS4 MT-ND5 MT-ND4 MT-ND1
13 mitochondrial myopathy, infantile, transient 32.4 MT-ND5 MT-ND1 MT-ATP6
14 pyruvate dehydrogenase e3-binding protein deficiency 32.4 PDHX PDHA1
15 myopathy 32.3 YARS2 PUS1 PNPLA8 NDUFS4 MT-ND5 MT-ND4
16 mitochondrial dna depletion syndrome 5 32.3 UQCRFS1 SUCLG1
17 leigh syndrome 32.3 SUCLG1 PUS1 PDHX PDHA1 NDUFS4 NDUFA13
18 mitochondrial encephalomyopathy 32.1 SUCLG1 NDUFS4 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
19 mitochondrial myopathy 32.1 YARS2 PUS1 PNPLA8 MT-ND5 MT-ND4 MT-ND1
20 pontocerebellar hypoplasia, type 6 32.1 LARS2 KARS1
21 mitochondrial metabolism disease 31.6 SUCLG1 NDUFS4 MT-ND4 MT-ND1 MT-ATP6
22 sideroblastic anemia 31.6 YARS2 PUS1 MT-ATP6 LARS2
23 neuropathy 31.4 NDUFS4 MT-ND5 MT-ND4 MT-ND1 MT-ATP6 KARS1
24 kearns-sayre syndrome 31.3 SUCLG1 PUS1 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
25 peripheral nervous system disease 31.3 MT-ND4 MT-ND1 MT-ATP6 CHAT
26 early myoclonic encephalopathy 31.3 NDUFS4 MT-ND5 MT-ND4 MT-ATP6
27 cortical blindness 31.2 MT-ND5 MT-ND4 MT-ND1
28 hypertrophic cardiomyopathy 31.2 UQCRFS1 NDUFS4 NDUFA13 MT-ND5 MT-ND1 MT-ATP6
29 3-methylglutaconic aciduria, type iii 31.0 UQCRFS1 SUCLG1 MT-ND4 MT-ND1 MT-ATP6
30 mitochondrial dna-associated leigh syndrome and narp 31.0 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
31 myoclonic epilepsy associated with ragged-red fibers 31.0 MT-ND5 MT-ND4 MT-ND1 MT-ATP6 LARS2
32 chronic progressive external ophthalmoplegia 30.8 SUCLG1 MT-ND5 MT-ND4 MT-ND1 MT-ATP6 CHAT
33 hereditary optic neuropathy 30.6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
34 optic nerve disease 30.6 NDUFS4 MT-ND5 MT-ND4 MT-ND1 MT-ATP6 KARS1
35 leber hereditary optic neuropathy, modifier of 30.5 UQCRFS1 NDUFS4 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
36 leber optic atrophy and dystonia 30.5 MT-ND4 MT-ND1
37 perrault syndrome 30.4 YARS2 LARS2 KARS1
38 gracile syndrome 11.9
39 mitochondrial myopathy with lactic acidosis 11.8
40 pyruvate carboxylase deficiency 11.7
41 myopathy with lactic acidosis, hereditary 11.7
42 dihydrolipoamide dehydrogenase deficiency 11.7
43 hydrops, lactic acidosis, and sideroblastic anemia 11.7
44 combined oxidative phosphorylation deficiency 10 11.7
45 hyperglycinemia, lactic acidosis, and seizures 11.7
46 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 11.7
47 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 11.6
48 combined oxidative phosphorylation deficiency 18 11.6
49 combined oxidative phosphorylation deficiency 3 11.5
50 mitochondrial phosphate carrier deficiency 11.5

Graphical network of the top 20 diseases related to Lactic Acidosis:



Diseases related to Lactic Acidosis

Symptoms & Phenotypes for Lactic Acidosis

Drugs & Therapeutics for Lactic Acidosis

Drugs for Lactic Acidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
4
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
5 Liver Extracts Phase 4
6 Photosensitizing Agents Phase 4
7 Vitamin B2 Phase 4
8 Dermatologic Agents Phase 4
9 carnitine Phase 4
10 Reverse Transcriptase Inhibitors Phase 4
11 Anti-Retroviral Agents Phase 4
12 Anti-HIV Agents Phase 4
13 Anti-Infective Agents Phase 4
14 Antiviral Agents Phase 4
15
Abacavir Approved, Investigational Phase 2, Phase 3 136470-78-5 65140 441300
16
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2, Phase 3 7487-88-9 24083
17
Ethanol Approved Phase 2, Phase 3 64-17-5 702
18 Analgesics Phase 2, Phase 3
19 Anti-Arrhythmia Agents Phase 2, Phase 3
20 Anesthetics Phase 2, Phase 3
21 Hormones Phase 2, Phase 3
22 Anticonvulsants Phase 2, Phase 3
23 Tocolytic Agents Phase 2, Phase 3
24 calcium channel blockers Phase 2, Phase 3
25 Calcium, Dietary Phase 2, Phase 3
26
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
27
Idebenone Approved, Investigational Phase 2 58186-27-9
28
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
29 Ubiquinone Phase 2
30 Antioxidants Phase 2
31 Protective Agents Phase 2
32 Blood Substitutes Phase 2
33 Insulin, Globin Zinc Phase 2
34 insulin Phase 2
35 pyruvate Phase 2
36
Linezolid Approved, Investigational 165800-03-3 441401
37
Nitroglycerin Approved, Investigational 55-63-0 4510
38
Zinc Approved, Investigational 7440-66-6 32051
39
Nitisinone Approved, Investigational 104206-65-7 115355
40
Dopamine Approved 51-61-6, 62-31-7 681
41
Haloperidol Approved 52-86-8 3559
42
Olanzapine Approved, Investigational 132539-06-1 4585 135398745
43
Nicotinamide Approved, Investigational 98-92-0 936
44
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
45
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
46 Anti-Bacterial Agents
47 Antibiotics, Antitubercular
48 Dopamine Agents
49 Psychotropic Drugs
50 Gastrointestinal Agents

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Preoperative Parenteral Thiamine Supplementation in Patients Undergoing Heart Surgery - a Pilot Study Completed NCT01524315 Phase 4 Vitamin B1-ratiopharm;Placebo
2 Lactic Acid Metabolism in HIV-Infected Persons. Predicting Abnormalities in Lactate Production and Clearance Related to Treatment and Liver Disease and Measuring the Impact of Vitamin Supplementation. Completed NCT00202228 Phase 4 cofactor supplementation (thiamine, riboflavin, L-carnitine)
3 Metformin Continuation Safety in Diabetic Patients Undergoing Coronary Angiography Recruiting NCT04766008 Phase 4 Metformin
4 The Incidence of Lactic Acidosis During Entecavir Treatment in Chronic Hepatitis B Patients With Severe Cirrhosis or Hepatic Failure Terminated NCT01354652 Phase 4 entecavir, lamivudine
5 Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis Completed NCT00004490 Phase 3 sodium dichloroacetate
6 Randomized, Open-Label Study of Continued Stavudine Versus Abacavir Substitution With or Without Riboflavin and Thiamine Supplementation in HIV-Infected Patients Who Have Elevated Venous Lactic Acid While on Stavudine-Based Therapy (DAVE) Completed NCT00143702 Phase 2, Phase 3 d4T;Abacavir;Riboflavin and Thiamine (Supplementation)
7 A Prospective Randomised Controlled Trial of the Effect of Magnesium Sulphate Administration on Red Cell Transketolase Activity in Alcohol Dependent Patients at Risk of Wernicke Korsakoff Syndrome Treated With Thiamine Completed NCT03466528 Phase 2, Phase 3 Magnesium Sulfate;Pabrinex
8 Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia Completed NCT00004493 Phase 2 sodium dichloroacetate
9 A Multi-center, Randomized, Double-blind, Controlled Study to Evaluate the Safety and Efficacy of MP4OX Treatment, in Addition to Standard Treatment, in Severely Injured Trauma Patients With Lactic Acidosis Due to Hemorrhagic Shock Completed NCT01262196 Phase 2 MP4OX;Saline
10 A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
11 A Multi-center, Randomized, Double-blind, Controlled Dose-finding Study to Evaluate the Safety and Efficacy of MP4OX Treatment Plus Standard of Care in Severely Injured Trauma Patients With Lactic Acidosis Due to Hemorrhagic Shock Completed NCT01004198 Phase 2 MP4OX;MP4OX;Ringers Lactate solution
12 Spectroscopic Evaluation of Lesion Evolution in Stroke: Trial of Insulin for Acute Lactic Acidosis (SELESTIAL) Completed NCT00124826 Phase 2 Insulin
13 Randomized, Double-blind, Placebo-controlled Trial of the Effect of Thiamine on Oxygen Consumption After In-hospital Cardiac Arrest. Recruiting NCT02974257 Phase 2 Thiamine
14 A Phase 2a Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Individuals With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Recruiting NCT04475549 Phase 2 IW-6463 Tablets
15 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Not yet recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
16 Metformin in Moderate and Severe Renal Failure (CKD 3-4): A Follow-up Study Withdrawn NCT02848508 Phase 2 Metformin
17 A Multi-center, Multinational, Randomized, Double-blind, Controlled, Dose Comparison Study to Evaluate Safety and Efficacy of MP4OX Plus Standard Treatment, in Severely Injured Trauma Subjects With Lactic Acidosis Due to Hemorrhagic Shock Withdrawn NCT01973504 Phase 2 MP4OX;Control
18 Thiamine Supplementation in Patients With Septic Shock: A Randomized, Double Blind, Placebo Controlled Trial Withdrawn NCT03122678 Phase 1 Thiamine;Placebos
19 Metformin Use in Chronic Kidney Disease: The CKD-Met Study Unknown status NCT02844153
20 Investigation of the Correlation Between Plasma Concentration of Linezolid Antibiotic and Treatment Response and Adverse Reactions Unknown status NCT03126890
21 Metformin Treatment, Renal Function and Lactic Acidosis. A Population Based Completed NCT01358994
22 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
23 Clinical Outcomes in Pediatric Plasmodium Falciparum Malaria According to Host Cytoadherence Factors Completed NCT00707200
24 On the Role of Mitochondrial Dysfunction in the Pathogenesis of Metformin-associated Lactic Acidosis Completed NCT00942123
25 Pharmacotoxicology of Trichloroethylene Metabolites Completed NCT00874276 Dichloroacetate (DCA)
26 Dichloroacetate Kinetics, Metabolism and Toxicology Completed NCT00015015 Dichloroacetate
27 Nitroglycerin Infusion During Rewarming in Cardiac Surgery and Its Effects on Tissue Perfusion and Coagulation Completed NCT01901419 Nitroglycerin infusion
28 Incidence of Lactic Acidosis After Coronary Angiography and Angioplasty in Diabetic Patients on Continued Metformin Therapy With Normal Renal Function. Completed NCT01873859 Metformin
29 Effect of Blood Storage Age on the Resolution of Lactic Acidosis in Children With Severe Malarial Anemia at Mulago Hospital Completed NCT01580111
30 Glucose-insulin-potassium Therapy Improves Lactic Acidosis in Liver Transplantation Completed NCT03522181
31 Lactic Acidosis During and After Seizures Completed NCT01833247
32 The Effects of Whole Body Periodic Acceleration on Blood Lactate and Recovery in Trained Individuals Completed NCT02482597
33 Prevention of Dichloroacetate Toxicity Completed NCT00031161 Nitisinone (NTBC);Dichloroacetate
34 Blood Lactate Levels in Patients Treated With Typical or Atypical Antipsychotics Completed NCT01139463 Haloperidol or olanzapine
35 Characterization of Lactic Acidosis in Pediatric Postoperative Cardiac Patients Completed NCT03025659
36 Study of Metformin Overdose in Adult Patients Treated at the University Hospital of Nancy: Single-center Descriptive Retrospective Observational Study Recruiting NCT04762966 Metformin
37 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
38 EuroSIDA Prospective Observational Cohort Study on Clinical and Virological Outcome of European Patients Infected With HIV Enrolling by invitation NCT02699736
39 Dichloroacetate Treatment of Congenital Lactic Acidosis Phase B: Expanded Access No longer available NCT01797276 Dichloroacetate
40 A Pilot Study to Compare the Interaction Between Central Venous Mixed Venous Oxygen Saturation Catheters and Central Venous Hemodialysis Catheters Withdrawn NCT00739089
41 Effect of Remote Ischemic Preconditioning on Serum Lactate Levels As Well As Cardiac and Renal Functions During and After Open Heart Surgeries Withdrawn NCT03723993
42 The Gene Expression Studies of Tumor Microenvironments and Their Roles in Tumor Progression Withdrawn NCT00638040

Search NIH Clinical Center for Lactic Acidosis

Cochrane evidence based reviews: acidosis, lactic

Genetic Tests for Lactic Acidosis

Genetic tests related to Lactic Acidosis:

# Genetic test Affiliating Genes
1 Lactic Acidosis 29

Anatomical Context for Lactic Acidosis

MalaCards organs/tissues related to Lactic Acidosis:

40
Liver, Skeletal Muscle, Kidney, Brain, Skin, Endothelial, Lung

Publications for Lactic Acidosis

Articles related to Lactic Acidosis:

(show top 50) (show all 6605)
# Title Authors PMID Year
1
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. 54 61
19879173 2010
2
Cytochrome c oxidase deficiency: patients and animal models. 54 61
19682572 2010
3
Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. 54 61
19617458 2009
4
Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction. 61 54
19195941 2009
5
99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders. 54 61
19579665 2009
6
Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study. 61 54
19353431 2009
7
[Toxicogenetics of antiretroviral treatment (II): neurotoxicity, hepatotoxicity, lactic acidosis, kidney damage, and other adverse effects of antiretroviral drugs]. 54 61
18680693 2008
8
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings. 54 61
18197404 2008
9
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). 54 61
17056637 2007
10
[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]. 61 54
16981164 2006
11
Pyruvate dehydrogenase E3 binding protein (protein X) deficiency. 61 54
16904023 2006
12
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. 61 54
16736096 2006
13
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. 54 61
16492986 2006
14
Deficiency of glutathione transferase zeta causes oxidative stress and activation of antioxidant response pathways. 54 61
16278372 2006
15
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. 54 61
16278852 2006
16
Extensive investigations of mitochondrial DNA genome in treated HIV-infected subjects: beyond mitochondrial DNA depletion. 61 54
15905734 2005
17
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. 54 61
15711955 2005
18
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. 54 61
15971356 2005
19
The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis. 61 54
15798212 2005
20
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 54 61
15767514 2005
21
[Lactic acidosis in HIV-patients--diagnosis and treatment]. 61 54
15373054 2004
22
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 61 54
14994243 2004
23
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. 61 54
14662656 2004
24
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex. 54 61
15303005 2004
25
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1. 61 54
14635113 2003
26
Quantitative analysis of human mitochondrial DNA using a real-time PCR assay. 54 61
12859329 2003
27
Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation. 54 61
12551913 2003
28
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 61 54
12414820 2002
29
Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. 61 54
12536371 2002
30
Pathogenic mechanism, prophylaxis, and therapy of symptomatic acidosis induced by acetazolamide. 61 54
11928941 2002
31
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases. 54 61
11907800 2002
32
Pyruvate dehydrogenase E3 binding protein deficiency. 61 54
11935326 2002
33
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. 61 54
11687750 2001
34
Riboflavin treatment of antiretroviral induced lactic acidosis and hepatic steatosis. 61 54
11508132 2001
35
A SURF1 gene mutation presenting as isolated leukodystrophy. 54 61
11409433 2001
36
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. 61 54
11156535 2001
37
[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. 61 54
10637838 1999
38
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. 54 61
10393702 1999
39
Dichloroacetate and cerebral ischaemia therapeutics. 61 54
15992085 1999
40
Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. 54 61
9585002 1998
41
Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. 54 61
9467016 1998
42
Hepatic pyruvate dehydrogenase activity in humans: effect of cirrhosis, transplantation, and dichloroacetate. 54 61
9530159 1998
43
Pyruvate dehydrogenase complex deficiency and absence of subunit X. 61 54
9501264 1998
44
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. 54 61
9399911 1997
45
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. 61 54
8938697 1996
46
[Pyruvate dehydrogenase deficiency and cerebral malformations]. 54 61
8983728 1996
47
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. 54 61
8652022 1996
48
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. 61 54
7565923 1995
49
Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts. 61 54
7720232 1995
50
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. 61 54
8032855 1994

Variations for Lactic Acidosis

ClinVar genetic disease variations for Lactic Acidosis:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHAT NM_020549.4(CHAT):c.2081C>G (p.Ser694Cys) SNV Pathogenic 523529 rs201439531 GRCh37: 10:50872926-50872926
GRCh38: 10:49664880-49664880
2 KARS1 NM_001130089.1(KARS1):c.1438del (p.Leu480fs) Deletion Pathogenic 560389 rs1567498374 GRCh37: 16:75664391-75664391
GRCh38: 16:75630493-75630493
3 UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>C SNV Pathogenic 619297 rs1568344751 GRCh37: 19:29699066-29699066
GRCh38: 19:29208159-29208159
4 UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) SNV Pathogenic 619499 rs1242465339 GRCh37: 19:29698670-29698670
GRCh38: 19:29207763-29207763
5 UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) SNV Pathogenic 619501 rs1568346416 GRCh37: 19:29703985-29703985
GRCh38: 19:29213078-29213078
6 APOO NM_024122.5(APOO):c.350T>C (p.Ile117Thr) SNV Pathogenic 976657 GRCh37: X:23886748-23886748
GRCh38: X:23868631-23868631
7 NDUFS4 NM_002495.4(NDUFS4):c.350+5G>A SNV Pathogenic 930177 GRCh37: 5:52942240-52942240
GRCh38: 5:53646410-53646410
8 NDUFA13 NM_015965.7(NDUFA13):c.194del (p.Phe65fs) Deletion Pathogenic 983476 GRCh37: 19:19638109-19638109
GRCh38: 19:19527300-19527300
9 NDUFA13 NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) SNV Pathogenic 983478 GRCh37: 19:19637003-19637003
GRCh38: 19:19526194-19526194
10 CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) SNV Pathogenic 523528 rs769234940 GRCh37: 10:50835781-50835781
GRCh38: 10:49627735-49627735
11 ATP5F1A NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His) SNV Likely pathogenic 432972 rs1555695342 GRCh37: 18:43669562-43669562
GRCh38: 18:46089596-46089596
12 NGLY1 NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe) SNV Uncertain significance 812762 rs771354261 GRCh37: 3:25781191-25781191
GRCh38: 3:25739700-25739700

Expression for Lactic Acidosis

Search GEO for disease gene expression data for Lactic Acidosis.

Pathways for Lactic Acidosis

Pathways related to Lactic Acidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 UQCRFS1 SUCLG1 PNPLA8 PDHX PDHA1 PC
2
Show member pathways
13.15 UQCRFS1 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1
3
Show member pathways
12.5 UQCRFS1 SUCLG1 PDHX PDHA1 NDUFS4 NDUFA13
4
Show member pathways
12.48 UQCRFS1 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1
5
Show member pathways
12.24 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1
6
Show member pathways
11.75 SUCLG1 PDHX PDHA1
7
Show member pathways
11.62 SUCLG1 PDHA1 PC
8 11.61 SUCLG1 PDHX PDHA1 PC LARS2
9 10.25 PDHA1 CHAT

GO Terms for Lactic Acidosis

Cellular components related to Lactic Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.91 UQCRFS1 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1
2 mitochondrial respiratory chain complex I GO:0005747 9.72 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1
3 mitochondrial membrane GO:0031966 9.71 PNPLA8 NDUFA13 MT-ND4 MT-ND1
4 mitochondrial matrix GO:0005759 9.65 YARS2 SUCLG1 PUS1 PDHX PDHA1 PC
5 respiratory chain GO:0070469 9.63 UQCRFS1 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1
6 mitochondrion GO:0005739 9.6 YARS2 UQCRFS1 SUCLG1 PUS1 PNPLA8 PDHX
7 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.46 MT-ATP6 ATP5F1A
8 pyruvate dehydrogenase complex GO:0045254 9.43 PDHX PDHA1
9 proton-transporting ATP synthase complex GO:0045259 9.37 MT-ATP6 ATP5F1A

Biological processes related to Lactic Acidosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 UQCRFS1 PDHA1 NDUFS4 NDUFA13 MT-ND5 MT-ND4
2 tRNA aminoacylation for protein translation GO:0006418 9.54 YARS2 LARS2 KARS1
3 cristae formation GO:0042407 9.5 MT-ATP6 ATP5F1A APOO
4 ATP synthesis coupled proton transport GO:0015986 9.49 MT-ATP6 ATP5F1A
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.48 MT-ATP6 ATP5F1A
6 ATP synthesis coupled electron transport GO:0042773 9.46 MT-ND5 MT-ND4
7 mitochondrial acetyl-CoA biosynthetic process from pyruvate GO:0061732 9.43 PDHX PDHA1
8 electron transport coupled proton transport GO:0015990 9.4 MT-ND5 MT-ND4
9 mitochondrial respiratory chain complex I assembly GO:0032981 9.35 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1
10 pyruvate metabolic process GO:0006090 9.33 PDHX PDHA1 PC
11 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.02 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1

Molecular functions related to Lactic Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.95 YARS2 PNPLA8 PC NDUFA13 LARS2 KARS1
2 ligase activity GO:0016874 9.55 YARS2 SUCLG1 PC LARS2 KARS1
3 tRNA binding GO:0000049 9.54 YARS2 PUS1 KARS1
4 2 iron, 2 sulfur cluster binding GO:0051537 9.46 UQCRFS1 ISCU
5 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.43 MT-ATP6 ATP5F1A
6 aminoacyl-tRNA ligase activity GO:0004812 9.43 YARS2 LARS2 KARS1
7 pyruvate dehydrogenase (NAD+) activity GO:0034604 9.32 PDHX PDHA1
8 NADH dehydrogenase activity GO:0003954 9.26 NDUFA13 MT-ND5 MT-ND4 MT-ND1
9 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 NDUFS4 NDUFA13 MT-ND5 MT-ND4 MT-ND1

Sources for Lactic Acidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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