PedAM
Pediatric Disease Annotations & Medicines
| mitochondrial disorders | ||||
| Disease ID | 1038 |
|---|---|
| Disease | mitochondrial disorders |
| Definition | Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. |
| Synonym | disease mitochondrial disease, mitochondrial disorder, mitochondrial disorders mitochondrial disorders, mitochondrial mitochondrial dis mitochondrial disease mitochondrial disease/disorder mitochondrial diseases mitochondrial diseases [disease/finding] mitochondrial disorder |
| Orphanet | |
| DOID | |
| UMLS | C0751651 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:23) C0014544 | epilepsy | 4 C0020538 | hypertension | 2 C0031117 | peripheral neuropathies | 2 C0020542 | pulmonary hypertension | 2 C0001125 | lactic acidosis | 2 C0040188 | tic disorders | 1 C0033975 | psychotic disorder | 1 C0031117 | peripheral neuropathy | 1 C0003467 | anxiety | 1 C0878544 | cardiomyopathy | 1 C0878544 | myocardial disease | 1 C0009319 | colitis | 1 C0033975 | psychosis | 1 C0442874 | neuropathy | 1 C0033975 | psychotic disorders | 1 C0026703 | mucopolysaccharidoses | 1 C0004153 | atherosclerosis | 1 C0004134 | ataxia | 1 C0026769 | multiple sclerosis | 1 C0024591 | malignant hyperthermia | 1 C0456909 | vision loss | 1 C0004352 | autism | 1 C0026848 | myopathies | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1038 |
|---|---|
| Disease | mitochondrial disorders |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:23) HP:0001941 | acidemia | 2 HP:0003128 | Lactic acidosis | 2 HP:0000822 | Hypertension | 2 HP:0002092 | Pulmonary artery hypertension | 2 HP:0009830 | Peripheral neuritis | 1 HP:0001274 | Absent corpus callosum | 1 HP:0002621 | Atherosclerosis | 1 HP:0000717 | Autism | 1 HP:0002583 | Colitis | 1 HP:0002180 | Neurodegeneration | 1 HP:0000572 | Visual loss | 1 HP:0001631 | Atria septal defect | 1 HP:0000709 | Psychosis | 1 HP:0100033 | Tic disorder | 1 HP:0000365 | Hearing impairment | 1 HP:0002047 | Malignant hyperthermia | 1 HP:0001336 | Myoclonic jerks | 1 HP:0000739 | Anxiety | 1 HP:0001638 | Cardiomyopathy | 1 HP:0001250 | Seizures | 1 HP:0001251 | Ataxia | 1 HP:0001945 | Fever | 1 HP:0002013 | Emesis | 1 |
| Disease ID | 1038 |
|---|---|
| Disease | mitochondrial disorders |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C1384666 | hearing loss | 1 C0442874 | neuropathy | 1 C0878544 | cardiomyopathy | 1 C0031117 | peripheral neuropathy | 1 C0004134 | ataxia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113994093 | NA | 5428 | POLG | umls:C0751651 | CLINVAR | NA | 0.255763492 | NA | POLG | 15 | 89330241 | C | T |
| rs113994097 | 23248042 | 5428 | POLG | umls:C0751651 | BeFree | Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene. | 0.255763492 | 2012 | POLG | 15 | 89323426 | C | G |
| rs113994099 | 17310215 | 5428 | POLG | umls:C0751651 | BeFree | A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mitochondrial disease with eye muscle weakness and mtDNA defects. | 0.255763492 | 2007 | POLG | 15 | 89320883 | T | C |
| rs113994100 | NA | 5428 | POLG | umls:C0751651 | CLINVAR | NA | 0.255763492 | NA | POLG;FANCI | 15 | 89317531 | A | G,C |
| rs113994101 | NA | 5428 | POLG | umls:C0751651 | CLINVAR | NA | 0.255763492 | NA | POLG;FANCI | 15 | 89317388 | - | G |
| rs207460001 | 26245902 | 4519 | CYTB | umls:C0751651 | BeFree | Mitochondrial Disease-related Mutation G167P in Cytochrome b of Rhodobacter capsulatus Cytochrome bc1 (S151P in Human) Affects the Equilibrium Distribution of [2Fe-2S] Cluster and Generation of Superoxide. | 0.000542884 | 2015 | CYTB | MT | 15197 | T | C |
| rs387907087 | 20858599 | 55572 | FOXRED1 | umls:C0751651 | BeFree | The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. | 0.120271442 | 2010 | FOXRED1 | 11 | 126276476 | C | T |
| rs61752783 | NA | 5428 | POLG | umls:C0751651 | CLINVAR | NA | 0.255763492 | NA | POLG;MIR6766 | 15 | 89326947 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:15) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0751651 | chloramphenicol | D002701 | 56-75-7 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 16207263 | ||
| C0751651 | zalcitabine | D016047 | 7481-89-2 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 11706061 | ||
| C0751651 | ganciclovir | D015774 | 82410-32-0 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 12691611 | ||
| C0751651 | ifosfamide | D007069 | 3778-73-2 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 10401022 | ||
| C0751651 | indomethacin | D007213 | 53-86-1 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 22214982 | ||
| C0751651 | mitoxantrone | D008942 | 65271-80-9 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 7101322 | ||
| C0751651 | nicotine | D009538 | - | mitochondrial diseases | MESH:D028361 | marker/mechanism | 20960268 | ||
| C0751651 | pilocarpine | D010862 | 92-13-7 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 20206232 | ||
| C0751651 | progesterone | D011374 | 57-83-0 | mitochondrial diseases | MESH:D028361 | therapeutic | 22486171 | ||
| C0751651 | pyruvic acid | D019289 | 127-17-3 | mitochondrial diseases | MESH:D028361 | therapeutic | 8232219 | ||
| C0751651 | ribavirin | D012254 | 36791-04-5 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 11214134 | ||
| C0751651 | rosiglitazone | C089730 | - | mitochondrial diseases | MESH:D028361 | therapeutic | 20960268 | ||
| C0751651 | tolcapone | C066340 | 134308-13-7 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 11052337 | ||
| C0751651 | valproic acid | D014635 | 99-66-1 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 6412580 | ||
| C0751651 | zidovudine | D015215 | 30516-87-1 | mitochondrial diseases | MESH:D028361 | marker/mechanism | 10509500 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |