Disease Browser
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Parent Node: Mitochondrial Diseases (D028361) | Parent Node: Muscular Diseases (D009135) | ..Starting node ..Mitochondrial Myopathies (D017240)
| Child Nodes:
| ........Combined Oxidative Phosphorylation Deficiency 3 (C566467) L: 00097; | ........Mitochondrial cytopathy (C540770) | ........MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084) L: 00027; | ........MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184) L: 00527; | ........MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418) L: 00028; | ........MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471) L: 00029; | ........MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896) L: 00505; | ........MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156) L: 00506; | ........Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624) | ........Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608) | ........Mitochondrial Encephalomyopathies (D017237) 13 C:10 | ........Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376) | ........Mitochondrial Myopathy with Diabetes (C564026) | ........Mitochondrial myopathy with lactic acidosis (C537476) L: 00408; | ........MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209) L: 00509; | ........Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) L: 00045; | ........Myopathy, Mitochondrial, Lethal Infantile (C564017) L: 00172; | ........Neuropathy ataxia and retinitis pigmentosa (C537396) L: 00168; | ........Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5 | ........Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945) L: 00417; |
Sister Nodes: | ..Alpha-B Crystallinopathy (C563848)
| ..Anal Sphincter Myopathy, Internal (C566287)
| ..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
| ..Arthrogryposis (D001176) 55
| ..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
| ..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
| ..Chanarin-Dorfman Syndrome (C536560)
| ..Compartment Syndromes (D003161) 3
| ..Contracture (D003286) 41
| ..Craniomandibular Disorders (D017271) 4
| ..Dimauro disease (C536176)
| ..EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
| ..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
| ..Eosinophilia-Myalgia Syndrome (D016603)
| ..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
| ..Erythrocyte Amp Deaminase Deficiency (C567878)
| ..Erythrocyte Lactate Transporter Defect (C565449)
| ..Fatigue Syndrome, Chronic (D015673)
| ..Fibromyalgia (D005356)
| ..Fingerprint Body Myopathy (C564425)
| ..Hereditary Myopathy with Early Respiratory Failure (C566343)
| ..Hypertrophia Musculorum Vera (C564152)
| ..Isaacs Syndrome (D020386)
| ..Kocher-Debre-Semelaigne syndrome (C537211)
| ..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
| ..Medial Tibial Stress Syndrome (D058923)
| ..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
| ..Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
| ..Muscle Cramp (D009120) 3
| ..MUSCLE HYPERTROPHY (OMIM:614160)
| ..Muscle Neoplasms (D019042)
| ..Muscle Rigidity (D009127) 3
| ..Muscle Spasticity (D009128) 17
| ..Muscle Weakness (D018908) 5 C:2
| ..Muscular Disorders, Atrophic (D020966) 120 C:1
| ..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
| ..Musculoskeletal Pain (D059352) 2
| ..Myalgia (D063806)
| ..Myofascial Pain Syndromes (D009209) 1
| ..Myopathic carnitine deficiency (C536100)
| ..Myopathies, Structural, Congenital (D020914) 34
| ..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
| ..MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
| ..Myopathy with Giant Abnormal Mitochondria (C564971)
| ..Myopathy with Lactic Acidosis, Hereditary (C564972) L: 00476;
| ..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
| ..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
| ..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
| ..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
| ..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
| ..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
| ..Myopathy, Myosin Storage (C564253)
| ..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
| ..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
| ..Myopathy, X-Linked, with Excessive Autophagy (C564093)
| ..Myositis (D009220) 16
| ..Myostatin-related muscle hypertrophy (C536106)
| ..Myotonic Disorders (D020967) 10
| ..Neutral Lipid Storage Disease with Myopathy (C565192)
| ..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
| ..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
| ..Paralyses, Familial Periodic (D010245) 7
| ..Pectoralis Muscle, Absence of (C566793)
| ..PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
| ..Polymyalgia Rheumatica (D011111)
| ..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
| ..Rhabdomyolysis (D012206) 6 C:2
| ..Rippling muscle disease, 1 (C535686)
| ..Secretory Diarrhea, Myopathy, and Deafness (C564382)
| ..Singleton Merten syndrome (C537343)
| ..Systemic carnitine deficiency (C536778) L: 00473;
| ..Tel Hashomer camptodactyly syndrome (C536953)
| ..Tendinopathy (D052256) 5
| ..Treft Sanborn Carey syndrome (C536544)
| ..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
| ..Vacuolar myopathy (C536522)
| ..VLCAD deficiency (C536353) L: 00436;
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 8111 |
Name: | Mitochondrial Myopathies |
Definition: | A group of muscle diseases associated with abnormal mitochondria function. |
Alternative IDs: | DO:DOID:699|OMIM:251900 |
ParentIDs: | MESH:D009135|MESH:D028361 |
TreeNumbers: | C05.651.460 |C10.668.491.500 |C18.452.660.560 |
Synonyms: | Disease, Luft |Disease, Luft's |Luft Disease |Luft's Disease |Lufts Disease |Megaconial Myopathies |Megaconial Myopathy |Mitochondrial Myopathy |Myopathies, Mitochondrial |Myopathies, Pleoconial |Myopathy, Megaconial |Myopathy, Pleoconial |Pleoconial Myopathies |Pleo |
Slim Mappings: | Metabolic disease|Musculoskeletal disease|Nervous system disease |
Reference: |
MedGen: D017240
MeSH: D017240
OMIM: 251900; MSeqDR : 00400; MSeqDR has 22 matches in descendants: 00023; 00026; 00030; 00033; 00034; 00037; 00039; 00045; 00047; 00048; 00049; 00074; 00097; 00143; 00146; 00163; 00172; 00408; 00411; 00417; 00472; 00482; Genes: | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001397406.1(FDX2):c.159T>G (p.Ala53=) | 112812 | FDX2 | Benign | 378395 | RCV000423979|RCV001523339|RCV001702465; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020714,MedGen:C5193223,OMIM:251900 | 19 | 10426422 | 10426422 | | | 19:g.10426422A>C | ClinGen:CA9191309 | CN169374 not specified; | | NM_001397406.1(FDX2):c.45A>G (p.Leu15=) | 112812 | FDX2 | Benign | 395782 | RCV000440346|RCV001523340|RCV001702444; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020714,MedGen:C5193223,OMIM:251900 | 19 | 10426628 | 10426628 | | | 19:g.10426628T>C | ClinGen:CA9191365 | CN169374 not specified; | |
| MSeqDR Portal | Ensembl Gene ID | Associated Gene Name | LSDB Genes | LSDB Variants | clinVar hits | Description | Disease id | ENSG00000210127 | MT-TA | 1 | 1 | 0 | mitochondrially encoded tRNA alanine [Source:HGNC Symbol;Acc:7475] | 00400 | ENSG00000210191 | MT-TL2 | 1 | 1 | 0 | mitochondrially encoded tRNA leucine 2 (CUN) [Source:HGNC Symbol;Acc:7491] | 00400 | ENSG00000210112 | MT-TM | 1 | 1 | 0 | mitochondrially encoded tRNA methionine [Source:HGNC Symbol;Acc:7492] | 00400 | ENSG00000210117 | MT-TW | 1 | 1 | 0 | mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501] | 00400 |
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