ORPHA:550
MELAS
Synonyms: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes · Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes · Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance, Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MELAS | Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes · Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes · Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes |
| fr | MELAS | Encéphalomyopathie mitochondriale, acidose lactique, pseudo-épisodes vasculaires cérébraux · Encéphalopathie mitochondriale, acidose lactique, pseudo-épisodes vasculaires cérébraux · Myopathie mitochondriale, encéphalopathie, acidose lactique, pseudo-épisodes vasculaires cérébraux |
| de | MELAS | MELAS-Syndrom · Mitochondriale Enzephalomyopathie mit Laktatazidose und schlaganfallähnlichen Episoden |
| es | MELAS | Encefalomiopatía mitocondrial, acidosis láctica y episodios similares al ictus · Encefalopatía mitocondrial, acidosis láctica y episodios similares al ictus · Miopatía mitocondrial, encefalopatía, acidosis láctica y episodios similares al ictus |
| it | MELAS | Encefalomiopatia mitocondriale - acidosi lattica - episodi ictus-simili · Miopatia mitocondriale - encefalopatia - acidosi lattica - episodi ictus-simili |
| nl | MELAS | Mitochondriale encefalomyopathie, lactaatacidose en beroerteachtige episodes · Mitochondriale encefalopathie, lactaatacidose en beroerteachtige episodes · Mitochondriale myopathie, encefalopathie, melkzuuracidose en beroerteachtige episodes |
| pt | MELAS | Encefalomiopatia mitocondrial-acidose láctica e episódios ictus-like · Miopatia mitocondrial-encefalopatia-acidose láctica e episódios ictus-like |
| pl | MELAS | Encefalopatia mitochondrialna, kwasica mleczanowa z epizodami udaropodobnymi · Miopatia mitochondrialna, encefalopatia, kwasica mleczanowa i epizody udaropodobne |
| cs | MELAS | Mitochondriální encefalomyopatie, laktátová acidóza a iktu podobné příhody · Mitochondriální myopatie, encefalopatie, laktátová acidóza a iktu podobné příhody |
| uk | MELAS | Мітохондріальна енцефаломіопатія, молочнокислий ацидоз та інсультоподібні епізоди · Мітохондріальна енцефалопатія, молочнокислий ацидоз та інсультоподібні епізоди · Мітохондріальна міопатія, енцефалопатія, молочнокислий ацидоз та інсультоподібні епізоди |
| zh | 线粒体脑肌病伴乳酸血症和卒中样发作 | 线粒体肌病/脑病伴乳酸血症和卒中样发作 |
| tr | MELAS | Mitokondriyal ensefalomiyopati, laktik asidoz ve felç benzeri epizodlar · Mitokondriyal miyopati, ensefalopati, laktik asidoz ve felç benzeri epizodlar |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 540000 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0010789 | E | validated | |
| MeSH | D017241 | E | validated | |
| UMLS | C0162671 | E | validated | |
| GARD | 7009 | E | validated | |
| MedDRA | 10053872 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (11):
- ORPHA:217613Mitochondrial disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
14 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-CO3 | Candidate gene tested in | Not yet assessed | HGNC:7422 | ENSG00000198938 | 516050 | mitochondria | mitochondrially encoded cytochrome c oxidase III | 18587274[PMID] |
| MT-TH | Candidate gene tested in | Not yet assessed | HGNC:7487 | ENSG00000210176 | 590040 | mitochondria | mitochondrially encoded tRNA-His (CAU/C) | 14967777[PMID]_15111688[PMID] |
| MT-TQ | Candidate gene tested in | Not yet assessed | HGNC:7495 | ENSG00000210107 | 590030 | mitochondria | mitochondrially encoded tRNA-Gln (CAA/G) | |
| MT-TS2 | Candidate gene tested in | Not yet assessed | HGNC:7498 | ENSG00000210184 | 590085 | mitochondria | mitochondrially encoded tRNA-Ser (AGU/C) 2 | 16950817[PMID] |
| MT-CO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7419 | ENSG00000198804 | 516030 | mitochondria | mitochondrially encoded cytochrome c oxidase I | 22832341[PMID]_19568996[PMID] |
| MT-CO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7421 | ENSG00000198712 | 516040 | mitochondria | mitochondrially encoded cytochrome c oxidase II | 18245391[PMID] |
| MT-ND1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7455 | ENSG00000198888 | 516000 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | 15657614[PMID] |
| MT-ND4 | Disease-causing germline mutation(s) in | Assessed | HGNC:7459 | ENSG00000198886 | 516003 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | |
| MT-ND5 | Disease-causing germline mutation(s) in | Assessed | HGNC:7461 | ENSG00000198786 | 516005 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | 18587274[PMID]_20301411[PMID] |
| MT-ND6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7462 | ENSG00000198695 | 516006 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | 11781695[PMID] |
| MT-TF | Disease-causing germline mutation(s) in | Assessed | HGNC:7481 | ENSG00000210049 | 590070 | mitochondria | mitochondrially encoded tRNA-Phe (UUU/C) | 9771776[PMID] |
| MT-TL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7490 | ENSG00000209082 | 590050 | mitochondria | mitochondrially encoded tRNA-Leu (UUA/G) 1 | 20301411[PMID] |
| MT-TS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7497 | ENSG00000210151 | 590080 | mitochondria | mitochondrially encoded tRNA-Ser (UCN) 1 | 17894844[PMID] |
| MT-TW | Disease-causing germline mutation(s) in | Assessed | HGNC:7501 | ENSG00000210117 | 590095 | mitochondria | mitochondrially encoded tRNA-Trp (UGA/G) | 23696415[PMID] |
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.18 / 100 000 | Japan | Value and class | Validated | 21443929[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.63 / 100 000 | Finland | Value and class | Validated | 9371917[PMID] |
| Point prevalence | >1 / 1000 | 236 / 100 000 | Specific population | Value and class | Validated | 17300999[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
87 annotations · validated 2020-02-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008316 | Abnormal mitochondria in muscle tissue | |
| HP:0002381 | Aphasia | |
| HP:0012429 | Aplasia/Hypoplasia of the cerebral white matter | |
| HP:0000726 | Dementia | |
| HP:0002353 | EEG abnormality | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0002076 | Migraine | |
| HP:0001324 | Muscle weakness | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0001250 | Seizure | |
| HP:0002401 | Stroke-like episode | |
| HP:0012766 | Widened cerebral subarachnoid space | |
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0001251 | Ataxia | |
| HP:0002135 | Basal ganglia calcification | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000716 | Depression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001298 | Encephalopathy | |
| HP:0007159 | Fluctuations in consciousness | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001288 | Gait disturbance | |
| HP:0001269 | Hemiparesis | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002354 | Memory impairment | |
| HP:0001336 | Myoclonus | |
| HP:0003198 | Myopathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000709 | Psychosis | |
| HP:0002331 | Recurrent paroxysmal headache | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000736 | Short attention span | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0000572 | Visual loss | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0011442 | Abnormality of central motor function | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001903 | Anemia | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0012444 | Brain atrophy | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0005157 | Concentric hypertrophic cardiomyopathy | |
| HP:0002019 | Constipation | |
| HP:0002014 | Diarrhea | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0007067 | Distal peripheral sensory neuropathy | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0010783 | Erythema | |
| HP:0003546 | Exercise intolerance | |
| HP:0001508 | Failure to thrive | |
| HP:0001945 | Fever | |
| HP:0000097 | Focal segmental glomerulosclerosis | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0001263 | Global developmental delay | |
| HP:0000998 | Hypertrichosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0004389 | Intestinal pseudo-obstruction | |
| HP:0007327 | Mixed demyelinating and axonal polyneuropathy | |
| HP:0001270 | Motor delay | |
| HP:0000112 | Nephropathy | |
| HP:0000648 | Optic atrophy | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000751 | Personality changes | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0000093 | Proteinuria | |
| HP:0000114 | Proximal tubulopathy | |
| HP:0001345 | Psychotic mentation | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0100027 | Recurrent pancreatitis | |
| HP:0004372 | Reduced consciousness | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0025268 | Stuttering | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0001045 | Vitiligo | |
| HP:0001716 | Wolff-Parkinson-White syndrome | |
| Very rare (<4-1%) | ||
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0000821 | Hypothyroidism | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301411[PMID]_29289801[PMID]_30500480[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/550
- This record as JSON: /data/d/550.json