ORPHA:506
Leigh syndrome
Synonyms: Infantile subacute necrotizing encephalopathy · Leigh disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Mitochondrial inheritance, X-linked recessive
- Age of onset
- All ages
- Status
- active
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leigh syndrome | Infantile subacute necrotizing encephalopathy · Leigh disease |
| fr | Syndrome de Leigh | Encéphalomyopathie nécrosante subaiguë · Maladie de Leigh |
| de | Leigh-Syndrom | Infantile subakute nekrotisierende Enzephalomyelopathie · Leigh-Krankheit |
| es | Síndrome de Leigh | Encefalopatia necrotizante subaguda infantil |
| it | Sindrome di Leigh | Encefalomiopatia necrosante infantile subacuta · Malattia di Leigh |
| nl | Syndroom van Leigh | Infantiele subacute necrotiserende encefalopathie · Ziekte van Leigh |
| pt | Síndrome Leigh | Encefalopatia necrotizante sub-aguda infantil |
| pl | Zespół Leigha | Choroba Leigha · Dziecięca podostra encefalopatia martwicza |
| cs | Leighův syndrom | Leighova choroba · Subakutní nekrotizující encefalopatie u kojenců |
| uk | Синдром Лея | Підгостра інфантильна некротична енцефалопатія · Хвороба Лі |
| zh | Leigh综合征 | 婴儿亚急性坏死性脑病 |
| tr | Leigh sendromu | Leigh hastalığı · İnfantil subakut nekrotizan ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256000 | E | validated | |
| ICD-10 | G31.8 | NTBT | inclusion | validated |
| ICD-11 | 5C53.24 | E | specific | validated |
| MONDO | 0009723 | E | validated | |
| MeSH | D007888 | E | validated | |
| UMLS | C0023264 | E | validated | |
| GARD | 6877 | E | validated | |
| MedDRA | 10062950 | 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 (5):
- ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98687Supranuclear eye movement disorder
rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:70474Leigh syndrome with cardiomyopathy moved to · inactive
- ORPHA:255241Leigh syndrome with leukodystrophy moved to · inactive
- ORPHA:255249Leigh syndrome with nephrotic syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29685 | ENSG00000067704 | 612801 | 1q41 | isoleucyl-tRNA synthetase 2, mitochondrial | 39169373[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.8 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 100 000 | 1.3 / 100 000 | Australia | Value and class | Validated | 8602753[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2011[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
98 annotations · validated 2021-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0100022 | Abnormality of movement | |
| HP:0008947 | Floppy infant | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0003648 | Lacticaciduria | |
| Frequent (79-30%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0100321 | Abnormality of the dentate nucleus | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0008336 | Complex organic aciduria | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0008972 | Decreased activity of mitochondrial respiratory chain | |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | |
| HP:0002376 | Developmental regression | |
| HP:0006943 | Diffuse spongiform leukoencephalopathy | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion | |
| HP:0012748 | Focal T2 hyperintense brainstem lesion | |
| HP:0002171 | Gliosis | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000998 | Hypertrichosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0004305 | Involuntary movements | |
| HP:0002415 | Leukodystrophy | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000648 | Optic atrophy | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0031691 | Severe viral infection | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0002305 | Athetosis | |
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0011924 | Decreased activity of mitochondrial complex III | |
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0410145 | Decreased biotinidase activity | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0003219 | Ethylmalonic aciduria | |
| HP:0002909 | Generalized aminoaciduria | |
| HP:0001399 | Hepatic failure | |
| HP:0003348 | Hyperalaninemia | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0001943 | Hypoglycemia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0001993 | Ketoacidosis | |
| HP:0012120 | Methylmalonic aciduria | |
| HP:0002828 | Multiple joint contractures | |
| HP:0001324 | Muscle weakness | |
| HP:0003198 | Myopathy | |
| HP:0200147 | Neuronal loss in basal ganglia | |
| HP:0000639 | Nystagmus | |
| HP:0002542 | Olivopontocerebellar atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000508 | Ptosis | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001264 | Spastic diplegia | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001596 | Alopecia | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0008314 | Decreased activity of mitochondrial complex II | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0100660 | Dyskinesia | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0040197 | Encephalomalacia | |
| HP:0011335 | Frontal hirsutism | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0000348 | High forehead | |
| HP:0012469 | Infantile spasms | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000400 | Macrotia | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0002133 | Status epilepticus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 23772060[PMID]_26506407[PMID]_26425749[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/506
- This record as JSON: /data/d/506.json