MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Muscular Diseases (D009135)
..Starting node
..expand
Mitochondrial Myopathies (D017240)

       Child Nodes:
........expandCombined Oxidative Phosphorylation Deficiency 3 (C566467)  LSDB  L: 00097;
........expandMitochondrial cytopathy (C540770)
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)  LSDB  L: 00030;
........expandMitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
........expandMitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
........expandMitochondrial Encephalomyopathies (D017237) Child13  LSDB C:10
........expandMitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
........expandMitochondrial Myopathy with Diabetes (C564026)  LSDB  L: 00146;
........expandMitochondrial myopathy with lactic acidosis (C537476)  LSDB  L: 00408;
........expandMyopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)  LSDB  L: 00045;
........expandMyopathy, Mitochondrial, Lethal Infantile (C564017)  LSDB  L: 00172;
........expandNeuropathy ataxia and retinis pigmentosa (C537396)
........expandOphthalmoplegia, Chronic Progressive External (D017246) Child7  LSDB C:5
........expandTrifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)  LSDB  L: 00417;



 Sister Nodes: 
..expandAlpha-B Crystallinopathy (C563848)
..expandAnal Sphincter Myopathy, Internal (C566287)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandArthrogryposis (D001176) Child55
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCompartment Syndromes (D003161) Child3
..expandContracture (D003286) Child41
..expandCraniomandibular Disorders (D017271) Child4
..expandDimauro disease (C536176)
..expandEncephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..expandEosinophilia-Myalgia Syndrome (D016603)
..expandEpiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..expandErythrocyte Amp Deaminase Deficiency (C567878)
..expandErythrocyte Lactate Transporter Defect (C565449)
..expandFatigue Syndrome, Chronic (D015673)
..expandFibromyalgia (D005356)
..expandFingerprint Body Myopathy (C564425)
..expandHereditary Myopathy with Early Respiratory Failure (C566343)
..expandHypertrophia Musculorum Vera (C564152)
..expandIsaacs Syndrome (D020386)
..expandKocher-Debre-Semelaigne syndrome (C537211)
..expandMarinesco-Sjogren-like syndrome (MSLS) (C535913)
..expandMedial Tibial Stress Syndrome (D058923)
..expandMesoectodermal dysplasia (C538472)
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMuscle Cramp (D009120) Child3
..expandMuscle Neoplasms (D019042)
..expandMuscle Rigidity (D009127) Child3
..expandMuscle Spasticity (D009128) Child17
..expandMuscle Weakness (D018908) Child5  LSDB C:2
..expandMuscular Disorders, Atrophic (D020966) Child120  LSDB C:1
..expandMuscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..expandMusculoskeletal Pain (D059352) Child2
..expandMyalgia (D063806)
..expandMyofascial Pain Syndromes (D009209) Child1
..expandMyopathic carnitine deficiency (C536100)
..expandMyopathies, Structural, Congenital (D020914) Child34
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy with Lactic Acidosis, Hereditary (C564972)  LSDB  L: 00476;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandMyopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..expandMyopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..expandMyopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..expandMyopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..expandMyopathy, Hyaline Body, Autosomal Recessive (C564970)
..expandMYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..expandMYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..expandMYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..expandMyopathy, Myosin Storage (C564253)
..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..expandMyopathy, X-Linked, with Excessive Autophagy (C564093)
..expandMyositis (D009220) Child16
..expandMyostatin-related muscle hypertrophy (C536106)
..expandMyotonic Disorders (D020967) Child10
..expandNeutral Lipid Storage Disease with Myopathy (C565192)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandParalyses, Familial Periodic (D010245) Child7
..expandPectoralis Muscle, Absence of (C566793)
..expandPolymyalgia Rheumatica (D011111)
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandRhabdomyolysis (D012206) Child6  LSDB C:2
..expandRippling muscle disease, 1 (C535686)
..expandSalih Myopathy (C580430)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSingleton Merten syndrome (C537343)
..expandSystemic carnitine deficiency (C536778)  LSDB  L: 00473;
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendinopathy (D052256) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandTriglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..expandUruguay Faciocardiomusculoskeletal Syndrome (C564544)
..expandVacuolar myopathy (C536522)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7327
Name:Mitochondrial Myopathies
Definition:A group of muscle diseases associated with abnormal mitochondria function.
Alternative IDs: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 LSDB: 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
1 HP:0001939Abnormality of metabolism/homeostasis
2 HP:0002240Hepatomegaly
3 HP:0001265Hyporeflexia
4 HP:0000158Macroglossia
5 HP:0003737Mitochondrial myopathy
6 HP:0001270Motor delay
7 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
8 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
m.5591G>A4553MT-TAPathogenic121434458RCV000010251; NMedGen:C0162670,OMIM:251900M55915591--NC_012920.1:m.5591G>AOMIM Allelic Variant:590000.0002C0162670 251900 Mitochondrial myopathy
NC_012920.1:m.5610G>A4553MT-TAPathogenic786200951RCV000169781; NMedGen:C0162670,OMIM:251900M56105610--NC_012920.1:m.5610G>A-C0162670 251900 Mitochondrial myopathy
NC_012920.1:m.5631G>A4553MT-TAPathogenic786200950RCV000169780; NMedGen:C0162670,OMIM:251900M56315631--NC_012920.1:m.5631G>A-C0162670 251900 Mitochondrial myopathy
m.12320A>G4568MT-TL2Pathogenic121434463RCV000010204; NMedGen:C0162670,OMIM:251900M1232012320--NC_012920.1:m.12320A>GOMIM Allelic Variant:590055.0002C0162670 251900 Mitochondrial myopathy
m.4409T>C4569MT-TMPathogenic118203884RCV000010191; NMedGen:C0162670,OMIM:251900M44094409--NC_012920.1:m.4409T>COMIM Allelic Variant:590065.0001C0162670 251900 Mitochondrial myopathy
m.5521G>A4578MT-TWPathogenic199474673RCV000010166; NMedGen:C0162670,OMIM:251900M55215521--NC_012920.1:m.5521G>AOMIM Allelic Variant:590095.0003C0162670 251900 Mitochondrial myopathy
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000210127 MSeqDR Search EnsemblMT-TA113mitochondrially encoded tRNA alanine [Source:HGNC Symbol;Acc:7475]00400
ENSG00000210191 MSeqDR Search EnsemblMT-TL2111mitochondrially encoded tRNA leucine 2 (CUN) [Source:HGNC Symbol;Acc:7491]00400
ENSG00000210112 MSeqDR Search EnsemblMT-TM111mitochondrially encoded tRNA methionine [Source:HGNC Symbol;Acc:7492]00400
ENSG00000210117 MSeqDR Search EnsemblMT-TW111mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501]00400

*Click on gene and variants to check details. Or view all variants in new page