ORPHA:70472
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Synonyms: COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type · Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type · Leigh syndrome, French-Canadian type · Leigh syndrome, Saguenay-Lac-Saint-Jean type · SLSJ-COX deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type · Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type · Leigh syndrome, French-Canadian type · Leigh syndrome, Saguenay-Lac-Saint-Jean type · SLSJ-COX deficiency |
| fr | Acidose lactique congénitale type Saguenay-Lac-Saint-Jean | Déficit en COX type franco-canadien · Déficit en SLSJ-COX · Déficit en cytochrome oxydase C type franco-canadien · Maladie du Saguenay-Lac-Saint-Jean par déficit en cytochrome oxydase · Syndrome de Leigh type franco-canadien |
| de | Laktatazidose, kongenitale, Typ Saguenay-Lac-St. Jean | COX-Mangel, französisch-kanadischer Typ · Cytochrom-c-Oxidase-Mangel Typ Saguenay-Lac-St.Jean · Cytochrom-c-Oxidase-Mangel, französisch-kanadischer Typ · Leigh-Syndrom, Saguenay-Lac-St.Jean Typ · Leigh-Syndrom, französisch-kanadischer Typ · SLSJ-COX-Mangel |
| es | Acidosis láctica congénita tipo Saguenay-Lac-Saint-Jean | Deficiencia de COX tipo franco-canadiense · Deficiencia de COX-SLSJ · Deficiencia de citocromo C oxidasa tipo franco-canadiense · Deficiencia de citocromo oxidasa tipo Saguenay-Lac-Saint-Jean · Síndrome de Leigh tipo Saguenay-Lac-Saint-Jean · Síndrome de Leigh tipo franco-canadiense |
| it | Acidosi lattica congenita, tipo Saguenay-Lac-Saint-Jean | Deficit di COX, tipo franco-canadese · Deficit di SLSJ-COX · Deficit di citocromo C ossidasi, tipo franco-canadese · Deficit di citocromo ossidasi di Saguenay-Lac-St. Jean · Deficit di citocromo ossidasi, tipo Saguenay-Lac-Saint-Jean · Sindrome di Leigh, tipo Saguenay-Lac-Saint-Jean type · Sindrome di Leigh, tipo franco-canadese |
| nl | Congenitale lactaatacidose, Saguenay-Lac-Saint-Jean-type | COX-deficiëntie, Frans-Canadees type · Deficiëntie van cytochroom C oxidase, Frans-Canadees type · Deficiëntie van cytochroomoxidase, Saguenay-Lac-Saint-Jean-type · SLSJ-COX-deficiëntie · Syndroom van Leigh, Frans-Canadees type · Syndroom van Leigh, Saguenay-Lac-Saint-Jean-type |
| pt | Acidose láctica congénita, tipo Saguenay-Lac-Saint-Jean | Deficiência de COX tipo franco-canadiano · Deficiência de SLSJ-COX · Deficiência de citocromo c oxidase tipo franco-canadiano · Síndrome de Leigh tipo Sanguenay-Lac-St. Jean · Síndrome de Leigh tipo franco-canadiano |
| pl | Wrodzona kwasica mleczanowa, typ Saguenay, Lac i St. Jean | Niedobór COX, typ francusko-kanadyjski · Niedobór oksydazy cytochromowej, typ Saguenay, Lac i St. Jean · Niedobór oksydazy cytochromu C, typ francusko -kanadyjski · Niedobór SLSJ-COX · Zespół Leigha, typ francusko -kanadyjski · Zespół Leigha, typ Saguenay, Lac i St. Jean |
| cs | Vrozená laktátová acidóza, typ Saguenay-Lac-Saint-Jean | Deficit COX, francouzsko-kanadský typ · Deficit cytochrom C oxidázy, francouzsko-kanadský typ · Deficit cytochrom C oxidázy, typ Saguenay-Lac-Saint-Jean · Deficit SLSJ-COX · Leighův syndrom, francouzsko-kanadský typ · Leighův syndrom, typ Saguenay-Lac-Saint-Jean |
| uk | Вроджений молочнокислий ацидоз, тип Шагене-Лак-Сен-Жан | Дефіцит COX, франко-канадський тип · Дефіцит оксидази цитохрому С, франко-канадський тип · Дефіцит цитохромоксидази, тип Saguenay-Lac-Saint-Jean · Синдром Лі, франко-канадський тип · Синдром Лі, тип Saguenay-Lac-Saint-Jean · Дефіцит SLSJ-COX |
| zh | 先天性乳酸酸中毒，Saguenay-Lac-Saint-Jean型 | 细胞色素C氧化酶缺乏，Saguenay-Lac-Saint-Jean型 |
| tr | Doğumsal laktik asidoz, Saguenay-Lac-Saint-Jean tipi | SLSJ-COX eksikliği · COX eksikliği, Fransız-Kanada tipi · Leigh sendromu, Fransız-Kanada tipi · Leigh sendromu, Saguenay-Lac-Saint-Jean tipi · Sitokrom C oksidaz eksikliği, Fransız-Kanada tipi · Sitokrom oksidaz eksikliği, Saguenay-Lac-Saint-Jean tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220111 | BTNT | validated | |
| OMIM | 619065 | BTNT | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.24 | NTBT | index | validated |
| MONDO | 0009069 | E | validated | |
| MeSH | C537004 | E | validated | |
| UMLS | C1857355 | E | validated | |
| GARD | 8370 | 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 (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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRPPRC | Disease-causing germline mutation(s) in | Assessed | HGNC:15714 | ENSG00000138095 | 607544 | 2p21 | leucine rich pentatricopeptide repeat containing | 12529507[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
45 annotations · validated 2021-09-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0001942 | Metabolic acidosis | |
| HP:0002401 | Stroke-like episode | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0002072 | Chorea | |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers | |
| HP:0001410 | Decreased liver function | |
| HP:0002376 | Developmental regression | |
| HP:0011203 | EEG with abnormally slow frequencies | |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002540 | Inability to walk | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0001324 | Muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002465 | Poor speech | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002060 | Abnormal cerebral morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0012243 | Abnormal reproductive system morphology | |
| HP:0000248 | Brachycephaly | |
| HP:0010536 | Central sleep apnea | |
| HP:0001635 | Congestive heart failure | |
| HP:0100660 | Dyskinesia | |
| HP:0002015 | Dysphagia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0007325 | Generalized dystonia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0002878 | Respiratory failure | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 29152527[PMID]_26425749[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/70472
- This record as JSON: /data/d/70472.json