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MITOFAM
MITOFAM - A Pedigree Database for Mitochondrial DNA Variants
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**ABR** auditory brainstem response **ACADS** acyl-CoA dehydrogenase short chain **ACMG** American College of Medical Genetics and Genomics **AD** Alzeimer's Disease **ADHD** attention deficit hyperactivity disorder **ADPD** Alzeimer's Disease and Parkinsons's Disease **AGD** aminoglycoside-induced deafness **AIDS** acquired immunodeficiency syndrome **AIHL** aminoglycoside-induced hearing loss **AINHL** aminoglycoside-induced and nonsyndromic hearing loss **AML** acute myeloid leukemia **ARMS** amplification refractory mutation system **ARMS-PCR** amplification refractory mutation system polymerase chain reaction **ARUP** ARUP Laboratories **ASD** autism spectrum disorder **ASO** allele-specific oligonucleotide **ATP** adenosine triphosphate **BCVA** best-corrected visual acuity **BE-AFL** both eyes - advance field loss **BE-CS** both eyes - cecocentral scotoma **BE-DF** both eyes - depressed fields **BE-GFL** both eyes - generalised field loss **BE-IFD** both eyes - inferior field defect **BMI** body mass index **BNS** Blitz-Nick-Salaam **BPT** blood pressure of test **BSN** bilateral striatal necrosis **CADASIL** cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy **CCO** cytochrome c oxidase **CEPH** Centre d'Etude du Polymorphisme Humain **CFC** cardio-facio-cutaneous syndrome **CFTR** cystic fibrosis transmembrane conductance regulator **CHD** Coronary heart disease **CHOP** Children's Hospital of Philadelphia **CIPO** Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia **CIS** clinically isolated syndrome **CK** creatine kinase **CKD** chronic kidney disease **CMT** Charcot-Marie-Tooth disease **CNS** central nervous system **COI** cytochrome c oxidase subunit I **COPD** chronic obstructive pulmonary disease **COVID** coronavirus disease 2019 **COX** cytochrome c oxidase **CPEO** Chronic Progressive External Ophthalmoplegia **CS** citrate synthase **CSA** Congenital sideroblastic anemia **CSF** cerebrospinal fluid **CT** computed tomography **CUN** CUN codon family for mitochondrial tRNA-Leu **CVA** cerebrovascular accident **CVB** chorionic villus biopsy **DEAF** Maternally inherited DEAFness or aminoglycoside-induced DEAFness **DGGE** denaturing gradient gel electrophoresis **DHPLC** denaturing high-performance liquid chromatography **DIDMOAD** diabetes insipidus, diabetes mellitus, optic atrophy, and deafness **DKA** diabetic ketoacidosis **DM** Diabetes Mellitus **DMDF** Diabetes Mellitus + DeaFness **DMS** dimethyl sulfate **DNA** deoxyribonucleic acid **DPOAE** distortion product otoacoustic emissions **DRN** dementia, retinopathy, and neuropathy (combined clinical-feature code) **EBV** Epstein-Barr virus **ECG** electrocardiography **EDSS** Expanded Disability Status Scale **EEG** electroencephalography **EKG** electrocardiography **EMG** electromyography **EOM** extraocular muscle **ERG** electroretinogram **ESKD** end-stage kidney disease **ESRD** end-stage renal disease **EVA** enlarged vestibular aqueduct **FBSN** familial bilateral striatal necrosis **FGS** focal segmental glomerulosclerosis **FICP** Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy **FPG** fasting plasma glucose **FSGS** Focal segmental glomerulosclerosis **FSHD** facioscapulohumeral muscular dystrophy **GAD** glutamic acid decarboxylase **GCC** macular ganglion cell layer **GCL** ganglion cell layer **GDM** gestational diabetes mellitus **GERD** gastroesophageal reflux disease **GMD** gross motor development **HAART** highly active antiretroviral therapy **HbA1c** hemoglobin A1c **HCBPMR** the highest casual blood pressure of medical record **HCM** hypertrophic cardiomyopathy **HD** Huntington disease **HFF** LHON cybrid cell line identifier HFF **HIV** human immunodeficiency virus **HPE** LHON cybrid cell line identifier HPE **HPO** Human Phenotype Ontology **HPV** human papilloma virus **HSE** herpes simplex encephalitis **HSP** heavy strand promoter **HVR** hypervariable region **HVS-I** hypervariable segment I **IBD** inflammatory bowel disease **ICU** intensive care unit **IGT** impaired glucose tolerance **IHD** ischemic heart disease **INO** internuclear ophthalmoplegia **IOP** intraocular pressure **ISON** increased T2 MRI signal in the optic nerve **IUGR** intrauterine growth retardation **IVF** in vitro fertilization **IVS** interventricular septum **JOAG** juvenile open-angle glaucoma **KSS** Kearns Sayre Syndrome **LDYT** Leber's hereditary optic neuropathy and DYsTonia **LE-CS** left eye - cecocentral scotoma **LE-ND** left eye - not done or information not available **LE-PD** left eye - pale disc **LEIGH** Leigh syndrome **LETM** longitudinally extensive transverse myelitis **LHON** Leber Hereditary Optic Neuropathy **LHON-A** Leber hereditary optic neuropathy patient-derived fibroblast cell line A **LHON-B** Leber hereditary optic neuropathy patient-derived fibroblast cell line B **LHON-C** Leber hereditary optic neuropathy patient-derived fibroblast cell line C **LHON-D** Leber hereditary optic neuropathy patient-derived fibroblast cell line D **LHON-MS** Leber hereditary optic neuropathy and multiple sclerosis **LHON-MSL** Leber hereditary optic neuropathy with multiple sclerosis-like phenotype **LIMM** Lethal Infantile Mitochondrial Myopathy **LMS** multiple sclerosis-like disease in association with Leber hereditary optic neuropathy **LS** Leigh syndrome **LVF** left ventricular failure **LVH** left ventricular hypertrophy **LVHT** left ventricular hypertrabeculation/non-compaction **LVNC** left ventricular noncompaction **MAPK** mitogen-activated protein kinase **MAS-PCR** multiplex allele-specific PCR **MELA** mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS; source token appears truncated as MELA) **MELAS** Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes **MERRF** Myoclonic Epilepsy and Ragged Red Muscle Fibers **MERRF-MELAS** myoclonic epilepsy with ragged-red fibers / mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes **MHCM** Maternally inherited Hypertrophic CardioMyopathy **MIDD-MELAS** maternally inherited diabetes and deafness / mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes **MILS** maternally inherited Leigh syndrome **MITKD** mitochondrially inherited tubulointerstitial kidney disease **MITOMAP** MITOMAP: A Human Mitochondrial Genome Database **MLASA** myopathy, lactic acidosis, and sideroblastic anemia **MLVWT** maximal left ventricular wall thickness **MM** Mitochondrial Myopathy **MMC** Maternal Myopathy and Cardiomyopathy **MNGIE** mitochondrial neurogastrointestinal encephalomyopathy **MODY** maturity-onset diabetes of the young **MR** magnetic resonance (A3243G imaging/spectroscopy context) **MRC** context-dependent: Medical Research Council scale; mitochondrial respiratory chain **MRI** magnetic resonance imaging **mRNA** messenger RNA **MRS** magnetic resonance spectroscopy **MRSE** methicillin-resistant Staphylococcus epidermidis **MS** multiple sclerosis **MSL** multiple symmetric lipomatosis **MSS** MELAS-spectrum syndrome **MSUD** maple syrup urine disease **MT-ATP6** mitochondrially encoded ATP synthase membrane subunit 6 **MT-ATP8** mitochondrially encoded ATP synthase membrane subunit 8 **MT-CO1** mitochondrially encoded cytochrome c oxidase I **MT-CO2** mitochondrially encoded cytochrome c oxidase II **MT-CO3** mitochondrially encoded cytochrome c oxidase III **MT-CYB** mitochondrially encoded cytochrome b **MT-ND1** mitochondrially encoded NADH dehydrogenase 1 **MT-ND2** mitochondrially encoded NADH dehydrogenase 2 **MT-ND3** mitochondrially encoded NADH dehydrogenase 3 **MT-ND4** mitochondrially encoded NADH dehydrogenase 4 **MT-ND4L** mitochondrially encoded NADH dehydrogenase 4L **MT-ND5** mitochondrially encoded NADH dehydrogenase 5 **MT-ND6** mitochondrially encoded NADH dehydrogenase 6 **MT-RNR1** mitochondrially encoded 12S rRNA **MT-RNR2** mitochondrially encoded 16S rRNA **MT-TA** mitochondrially encoded tRNA-Ala **MT-TC** mitochondrially encoded tRNA-Cys **MT-TD** mitochondrially encoded tRNA-Asp **MT-TE** mitochondrially encoded tRNA-Glu **MT-TF** mitochondrially encoded tRNA-Phe **MT-TG** mitochondrially encoded tRNA-Gly **MT-TH** mitochondrially encoded tRNA-His **MT-TI** mitochondrially encoded tRNA-Ile **MT-TK** mitochondrially encoded tRNA-Lys **MT-TL1** mitochondrially encoded tRNA-Leu (UUA/G) **MT-TL2** mitochondrially encoded tRNA-Leu (CUN) **MT-TM** mitochondrially encoded tRNA-Met **MT-TN** mitochondrially encoded tRNA-Asn **MT-TP** mitochondrially encoded tRNA-Pro **MT-TQ** mitochondrially encoded tRNA-Gln **MT-TR** mitochondrially encoded tRNA-Arg **MT-TS1** mitochondrially encoded tRNA-Ser (UCN) **MT-TS2** mitochondrially encoded tRNA-Ser (AGY) **MT-TT** mitochondrially encoded tRNA-Thr **MT-TV** mitochondrially encoded tRNA-Val **MT-TW** mitochondrially encoded tRNA-Trp **MT-TY** mitochondrially encoded tRNA-Tyr **mtDNA** mitochondrial DNA **MTTE** mitochondrially encoded tRNA-Glu **MTTF** mitochondrially encoded tRNA-Phe **NA** not available / not applicable (table code) **NA-AION** non-arteritic anterior ischemic optic neuropathy **NAD** nicotinamide adenine dinucleotide **NADH** reduced nicotinamide adenine dinucleotide **NAION** non-arteritic anterior ischemic optic neuropathy **NARP** Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease **NARP-MILS** neuropathy, ataxia, and retinitis pigmentosa / maternally inherited Leigh syndrome **NCCR** NADH-cytochrome c reductase **ND** not determined (table code; context-dependent) **nDNA** nuclear DNA **NGS** next-generation sequencing **NHS** National Health Service **NIDDM** non-insulin-dependent diabetes mellitus **NIRS** near-infrared spectroscopy **NMDAS** Newcastle Mitochondrial Disease Adult Scale **NMR** nuclear magnetic resonance **NOS** not otherwise specified **NPMDS** Newcastle Pediatric Mitochondrial Disease Scale **NRTI** nucleoside analogue reverse transcriptase inhibitor **NSHL** nonsyndromic hearing loss **NSSNHL** nonsyndromic sensorineural hearing loss **NSVT** non-sustained ventricular tachycardia **NTP** nucleoside triphosphate **OCR** oxygen consumption rate **OCT** optical coherence tomography **OGLA** oral glucose-lowering agent **OGTT** oral glucose tolerance test **OHSU** Oregon Health & Science University **OMC** oral mucosa cells **ORCID** Open Researcher and Contributor ID **OXPHOS** oxidative phosphorylation **PABA** p-aminobenzoic acid **PAH** pulmonary arterial hypertension **PBL** peripheral blood lymphocytes **PBMC** peripheral blood mononuclear cells **PCOS** polycystic ovary syndrome **PCR** polymerase chain reaction **PCR-RFLP** PCR-restriction fragment length polymorphism **PDD** pervasive developmental disorder **PDE** pyridoxine-dependent epilepsy **PDHC** pyruvate dehydrogenase complex **PEM** Progressive encephalopathy **PEO** progressive external ophthalmoplegia **PGC** peroxisome proliferator-activated receptor gamma coactivator 1 alpha **PGD** preimplantation genetic diagnosis **PICU** pediatric intensive care unit **PLPBP** pyridoxal phosphate binding protein **PME** progressive myoclonus epilepsy **PMID** PubMed identifier **PMR** psychomotor retardation **PNA** peptide nucleic acid **PND** prenatal diagnosis **PNS** peripheral nervous system **POAG** primary open-angle glaucoma **POLG** DNA polymerase gamma, catalytic subunit **POTS** postural orthostatic tachycardia syndrome **PPA** peripapillary atrophy **PPOX** protoporphyrinogen oxidase **PRNFL** peripapillary retinal nerve fiber layer **PSQ** pyrosequencing **PSVT** paroxysmal supraventricular tachycardia **PTA** pure tone audiometry **PWV** pulse wave velocity **PXF** pseudoexfoliation **PYGM** glycogen phosphorylase, muscle associated **qPCR** quantitative polymerase chain reaction **QRS** QRS complex **RAPD** relative afferent pupillary defect **RBBB** right bundle branch block **RBF** ragged blue fibers **RE-AFL** right eye - advance field loss **RE-SP** right eye - segmental pallor **RFLP** restriction fragment length polymorphism **RIRCD** Reversible infantile respiratory chain deficiency **RNA** ribonucleic acid **RNFL** retinal nerve fiber layer **RPE** retinal pigment epithelium **RRF** ragged-red fibers **RRMS** relapsing-remitting multiple sclerosis **rRNA** ribosomal RNA **RTT** Rett Syndrome **SCA** Spinocerebellar ataxia **SCAD** short-chain acyl-CoA dehydrogenase **SCADD** short-chain acyl-CoA dehydrogenase deficiency **SCCR** succinate-cytochrome c reductase **SD** standard deviation **SDH** succinate dehydrogenase **SIADH** syndrome of inappropriate antidiuretic hormone secretion **SKM** skeletal muscle **SMA** spinal muscular atrophy **SMAN** sensorimotor axonal polyneuropathy **SNE** subacute necrotizing encephalopathy **SNHI** sensorineural hearing impairment **SNHL** SensoriNeural Hearing Loss **SOD** superoxide dismutase **SPECT** single-photon emission computed tomography **SPMS** secondary progressive multiple sclerosis **SSCP** single-strand conformation polymorphism **SSV** strongly SDH-reactive blood vessels **ST-T** ST-T segment **TAZ** tafazzin **TRF** time-resolved fluorometry **TRMU** tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase **tRNA** transfer RNA **TTGE** temporal temperature gradient gel electrophoresis **UCG** ultrasound cardiography **UCL** University College London **UCN** UCN codon family for mitochondrial tRNA-Ser **UEC** urinary epithelial cells **USA** United States of America **UTC** urinary tract cells **UUR** UUR codon family for mitochondrial tRNA-Leu **VACTERL** vertebral, anal, cardiovascular, tracheo-esophageal, renal, and limb defects **VEP** visual evoked potentials **VER** visual evoked response **VSMC** vascular smooth muscle cells **VUS** variant of uncertain significance **WBC** white blood cells **WES** whole-exome sequencing **WGS** whole-genome sequencing **WPW** Wolff-Parkinson-White * Homoplasmy = pure mutant mtDNAs. * Heteroplasmy = mixture of mutant and normal mtDNAs. * nd = not determined. * "Reported" status indicates that one or more publications have considered the mutation as possibly pathologic. * "Cfrm"(confirmed) status indicates that at least two or more independent laboratories have published reports on the pathogenicity of a specific mutation. These mutations are generally accepted by the mitochondrial research community as being pathogenic. * Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants.
Ning Zhang
2026年7月2日 02:17
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