Lactic acidosis
Symptom Information:
Symptom ID: | HPO:0003128 | |||||||||||
Synonyms: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Abnormality of acid-base homeostasis(HPO:0004360) Acidosis(HPO:0001941) Lactic acidosis(HPO:0003128) MedDRA: Metabolism and nutrition disorders(MedDRA:10027433) Acid-base disorders(MedDRA:10000485) Metabolic acidoses (excl diabetic acidoses)(MedDRA:10027416) Lactic acidosis(HPO:0003128) |
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Database Frequency: | 116 / 7739 | |||||||||||
Resource: |
All diseases associated with this symptom:
2p21 microdeletion syndrome | (Orphanet:163693) |
3-hydroxyisobutyric aciduria | (Orphanet:939) |
APNEA, CENTRAL SLEEP | (OMIM:207720) |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | (Orphanet:217371) |
Acute infantile liver failure-multisystemic involvement syndrome | (Orphanet:370088) |
Acyl-CoA dehydrogenase 9 deficiency | (Orphanet:99901) |
Amish lethal microcephaly | (Orphanet:99742) |
Atypical hypotonia - cystinuria syndrome | (Orphanet:238523) |
Autosomal recessive ataxia due to ubiquinone deficiency | (Orphanet:139485) |
Barth syndrome | (Orphanet:111) |
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO | (OMIM:615751) |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 1 | (OMIM:604377) |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 | (OMIM:607426) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | (OMIM:615578) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 | (OMIM:615595) |
Cardiomyopathy-hypotonia-lactic acidosis syndrome | (Orphanet:91130) |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | (Orphanet:293955) |
Classic maple syrup urine disease | (Orphanet:268145) |
Combined oxidative phosphorylation defect type 11 | (Orphanet:324535) |
Combined oxidative phosphorylation defect type 14 | (Orphanet:319519) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Combined oxidative phosphorylation defect type 17 | (Orphanet:369913) |
Combined oxidative phosphorylation defect type 2 | (Orphanet:254920) |
Combined oxidative phosphorylation defect type 4 | (Orphanet:254925) |
Combined oxidative phosphorylation defect type 8 | (Orphanet:319504) |
Combined oxidative phosphorylation deficiency type 23 | (ORPHA:444013) |
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | (Orphanet:1369) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY | (OMIM:614520) |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | (Orphanet:319678) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
Fatal infantile cytochrome C oxidase deficiency | (Orphanet:1561) |
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency | (Orphanet:289527) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | (Orphanet:168566) |
Fatal multiple mitochondrial dysfunction syndrome | (Orphanet:289573) |
Fumaric aciduria | (Orphanet:24) |
GLYCOGEN STORAGE DISEASE IXc | (OMIM:613027) |
GLYCOGEN STORAGE DISEASE Ic | (OMIM:232240) |
GRACILE syndrome | (Orphanet:53693) |
Glycogen storage disease due to glucose-6-phosphatase deficiency | (Orphanet:364) |
Glycogen storage disease due to glucose-6-phosphatase deficiency type a | (Orphanet:79258) |
Glycogen storage disease due to glucose-6-phosphatase deficiency type b | (Orphanet:79259) |
Glycogen storage disease due to glycogen debranching enzyme deficiency | (Orphanet:366) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary fructose intolerance | (Orphanet:469) |
Hereditary myopathy with lactic acidosis due to ISCU deficiency | (Orphanet:43115) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Hypotonia with lactic acidemia and hyperammonemia | (Orphanet:137908) |
Hypotonia-cerebral atrophy-hyperglycinemia syndrome | (Orphanet:363424) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Kearns-Sayre syndrome | (Orphanet:480) |
LIPOYLTRANSFERASE 1 DEFICIENCY | (OMIM:616299) |
Leber plus disease | (Orphanet:99718) |
Leigh syndrome | (Orphanet:506) |
Leigh syndrome with leukodystrophy | (Orphanet:255241) |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | (Orphanet:330050) |
Lethal infantile mitochondrial myopathy | (Orphanet:254857) |
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate | (Orphanet:314051) |
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 | (OMIM:154275) |
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 | (OMIM:154276) |
MEGDEL syndrome | (Orphanet:352328) |
MELAS | (Orphanet:550) |
MERRF | (Orphanet:551) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 | (OMIM:615453) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 | (OMIM:615838) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 | (OMIM:616111) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 | (OMIM:614053) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | (OMIM:603041) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) | (OMIM:615418) |
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | (OMIM:614741) |
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 | (OMIM:605711) |
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 | (OMIM:614299) |
Malonic aciduria | (Orphanet:943) |
Maternally-inherited Leigh syndrome | (Orphanet:255210) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | (Orphanet:255235) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
Mitochondrial DNA depletion syndrome, myopathic form | (Orphanet:254875) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | (Orphanet:314637) |
Mitochondrial myopathy - lactic acidosis - deafness | (Orphanet:2597) |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
Mitochondrial neurogastrointestinal encephalomyopathy | (Orphanet:298) |
Mitochondrial trifunctional protein deficiency | (Orphanet:746) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 | (OMIM:613561) |
Navajo neurohepatopathy | (Orphanet:255229) |
PHENFORMIN 4-HYDROXYLATION | (OMIM:261590) |
Pearson syndrome | (Orphanet:699) |
Propionic acidemia | (Orphanet:35) |
Pyruvate carboxylase deficiency | (Orphanet:3008) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase E1-beta deficiency | (Orphanet:255138) |
Pyruvate dehydrogenase E2 deficiency | (Orphanet:79244) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
Pyruvate dehydrogenase lipoic acid synthetase deficiency | (OMIM:614462) |
Pyruvate dehydrogenase phosphatase deficiency | (Orphanet:79246) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY | (OMIM:616084) |
SUCCINIC ACIDEMIA | (OMIM:600335) |
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:35123) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Stimmler syndrome | (Orphanet:3199) |
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 | (OMIM:616198) |
[DEL] GLYCOGEN STORAGE DISEASE Ib | (OMIM:232220) |
[DEL] LEIGH SYNDROME, X-LINKED | (OMIM:308930) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |