Mitochondrial complex iv deficiency, nuclear type 5

Preferred Label : Mitochondrial complex iv deficiency, nuclear type 5;

Symbol : MC4DN5;

CISMeF acronym : LSFC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cox deficiency, saguenay-lac-saint-jean type; Cox deficiency, french canadian type; Cytochrome C oxidase deficiency, french canadian type; Leigh syndrome, saguenay-lac-saint-jean type; LSFC; Leigh syndrome, french canadian type;

Description : The French Canadian type of Leigh syndrome is an autosomal recessive severe neurologic disorder with onset in infancy. Features include delayed psychomotor development, mental retardation, mild dysmorphic facial features, hypotonia, ataxia, and the development of lesions in the brainstem and basal ganglia. Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of Leigh syndrome, see 256000.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine-rich PPR motif-containing protein gene (LRPPRC, 607544.0001);

Laboratory abnormalities : Increased serum lactate; Increased CSF lactate; Decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle;

Prefixed ID : #220111;

Details

Origin ID

220111;

UMLS CUI

C1857355;

CISMeF manual mappings
- Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [ORDO Disease]
- French Canadian Leigh disease [DO Concept]
- Leigh syndrome , French Canadian type [MeSH concept]
- Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency [ICD-11 More detail]
- leigh syndrome , french canadian type [MeSH Supplementary Concept]
DO Cross reference
- French Canadian Leigh disease [DO Concept]
False automatic mappings
- Leigh syndrome [ORDO Disease]
Genes related to phenotype
- Leucine-rich ppr motif-containing protein [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS demyelination [HPO term]
- Delayed speech and language development [HPO term]
- Demyelination [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hyperglycemia [HPO term]
- Hypertelorism [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased hepatocellular lipid droplets [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Low anterior hairline [HPO term]
- Malar flattening [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Midface retrusion [HPO term]
- Peripheral demyelination [HPO term]
- Prominent forehead [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Tachypnea [HPO term]
- Tremor [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) [SNOMED CT concept]
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [ORDO Disease]
- French Canadian Leigh disease [DO Concept]
- Leigh syndrome , French Canadian type [MeSH concept]
- Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency [ICD-11 More detail]
- leigh syndrome , french canadian type [MeSH Supplementary Concept]

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