ORPHA:255210
Mitochondrial DNA-associated Leigh syndrome
Synonyms: MILS · Maternally-inherited Leigh disease · Maternally-inherited infantile subacute necrotizing encephalopathy · mtDNA-associated Leigh syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Childhood, Infancy
- Status
- active
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA-associated Leigh syndrome | MILS · Maternally-inherited Leigh disease · Maternally-inherited infantile subacute necrotizing encephalopathy · mtDNA-associated Leigh syndrome |
| fr | Syndrome de Leigh associé à une mutation de l'ADN mitochondrial | Encéphalomyopathie nécrosante subaiguë de transmission maternelle · MILS · Maladie de Leigh de transmission maternelle · Syndrome de Leigh associé à une mutation de l'ADNmt |
| de | Leigh-Syndrom, mitochondriale DNA-assoziiertes | Enzephalopathie, infantile nekrotisierende subakute, maternal vererbte · Leigh-Krankheit, maternal vererbte · MILS · mtDNA-assoziiertes Leigh-Syndrom |
| es | Síndrome de Leigh asociado al ADN mitocondrial | Encefalopatía necrotizante subaguda infantil de herencia materna · Enfermedad de Leigh de herencia materna · MILS · Síndrome de Leigh asociado al ADNmt |
| it | Sindrome di Leigh a trasmissione materna | Encefalopatia necrotizzante subacuta infantile a trasmissione materna · MILS · Malattia di Leigh a trasmissione materna |
| nl | Mitochondriaal DNA-geassocieerd syndroom van Leigh | MILS · Maternaal overgeërfde infantiele subacute necrotiserende encefalopathie · Maternaal overgeërfde ziekte van Leigh · mtDNA-geassocieerd syndroom van Leigh |
| pt | Síndrome Leigh ADN mitocondrial-associado | Doença de Leigh com hereditariedade materna · Encefalopatia necrotizante subaguda infantil com hereditariedade materna · MILS · Síndrome Leigh ADN mitocondrial-associado |
| pl | Zespół Leigha dziedziczony od matki | Choroba Leigha dziedziczona od matki · Dziecięca podostra encefalopatia martwicza dziedziczona od matki · MILS |
| cs | Maternálně zděděný Leighův syndrom | MILS · Leighova choroba zděděná po matce · Dětská subakutní nekrotizující encefalopatie zděděná po matce |
| uk | Мітохондріальна ДНК-асоційована хвороба Лі | Успадкована від матері дитяча підгостра некротична енцефалопатія · Хвороба Лі, що успадковується по материнській лінії · MILS · мтДНК-асоційований синдром Лі |
| zh | 线粒体DNA相关Leigh综合征 | 母系遗传的婴儿亚急性坏死性脑病 |
| tr | Mitokondriyal DNA -ilişkili Leigh sendromu | MILS · mtDNA-ilişkili Leigh sendromu · Maternal-geçişli Leigh hastalığı · Maternal-geçişli infantil subakut nekrotizan ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 500017 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0016814 | E | validated | |
| MeSH | C536035 | E | validated | |
| UMLS | C2931092 | E | validated | |
| GARD | 3671 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:255199OBSOLETE: Sporadic Leigh syndrome referred to · inactive
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Genes
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-ATP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7414 | ENSG00000198899 | 516060 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 6 | 19433277[PMID]_20301352[PMID] |
| MT-ND1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7455 | ENSG00000198888 | 516000 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | 20301352[PMID]_24830958[PMID] |
| MT-ND2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7456 | ENSG00000198763 | 516001 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | 16738010[PMID]_16996290[PMID]_20301352[PMID] |
| MT-ND3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7458 | ENSG00000198840 | 516002 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | 16023078[PMID]_20202874[PMID]_20301352[PMID]_22364517[PMID] |
| MT-ND4 | Disease-causing germline mutation(s) in | Assessed | HGNC:7459 | ENSG00000198886 | 516003 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | 20301352[PMID]_20502985[PMID] |
| MT-ND5 | Disease-causing germline mutation(s) in | Assessed | HGNC:7461 | ENSG00000198786 | 516005 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | 11938446[PMID]_14520659[PMID]_20301352[PMID] |
| MT-ND6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7462 | ENSG00000198695 | 516006 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | 14595656[PMID]_20301352[PMID]_23813926[PMID] |
| MT-TK | Disease-causing germline mutation(s) in | Assessed | HGNC:7489 | ENSG00000210156 | 590060 | mitochondria | mitochondrially encoded tRNA-Lys (AAA/G) | 20301352[PMID]_24374964[PMID] |
| MT-TL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7490 | ENSG00000209082 | 590050 | mitochondria | mitochondrially encoded tRNA-Leu (UUA/G) 1 | 9323566[PMID]_10356136[PMID]_20301352[PMID] |
| MT-TV | Disease-causing germline mutation(s) in | Assessed | HGNC:7500 | ENSG00000210077 | 590105 | mitochondria | mitochondrially encoded tRNA-Val (GUN) | 11799391[PMID]_20301352[PMID]_24691472[PMID] |
| MT-TW | Disease-causing germline mutation(s) in | Assessed | HGNC:7501 | ENSG00000210117 | 590095 | mitochondria | mitochondrially encoded tRNA-Trp (UGA/G) | 9266739[PMID]_19349200[PMID]_20301352[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
53 annotations · validated 2019-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000816 | Abnormality of Krebs cycle metabolism | |
| HP:0002490 | Increased CSF lactate | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002072 | Chorea | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0002572 | Episodic vomiting | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion | |
| HP:0002066 | Gait ataxia | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001276 | Hypertonia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003648 | Lacticaciduria | |
| HP:0001324 | Muscle weakness | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0001250 | Seizure | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0031434 | Abnormal speech prosody | |
| HP:0002104 | Apnea | |
| HP:0002483 | Bulbar signs | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0002376 | Developmental regression | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002015 | Dysphagia | |
| HP:0002094 | Dyspnea | |
| HP:0004885 | Episodic respiratory distress | |
| HP:0001945 | Fever | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0003348 | Hyperalaninemia | |
| HP:0001347 | Hyperreflexia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002883 | Hyperventilation | |
| HP:0001265 | Hyporeflexia | |
| HP:0002045 | Hypothermia | |
| HP:0012469 | Infantile spasms | |
| HP:0003737 | Mitochondrial myopathy | |
| HP:0100611 | Multiple glomerular cysts | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0003481 | Segmental peripheral demyelination/remyelination | |
| HP:0000407 | Sensorineural hearing impairment | |
| Very rare (<4-1%) | ||
| HP:0003572 | Low plasma citrulline | |
| HP:0003200 | Ragged-red muscle fibers | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29101127[PMID]_21402391[PMID]_20301352[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/255210
- This record as JSON: /data/d/255210.json