Details of Disease

General Information of Disease (ID: DISVZ0PJ)

• Disease Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
• Synonyms: Cox deficiency, Saguenay Lac saint Jean type; Leigh syndrome, French Canadian type; cytochrome C oxidase deficiency, French Canadian type; Cox deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay Lac saint Jean type; LSFC; Cox deficiency, French Canadian type; Leigh syndrome, French-Canadian type; congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; COX deficiency, French-Canadian type; cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency; cytochrome C oxidase deficiency, French-Canadian type; mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)
• Definition: Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISWQU45: Leigh syndrome
  DISVZ0PJ: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
• Disease Identifiers:
  MONDO ID: MONDO_0009069
  MESH ID: C537004
  UMLS CUI: C1857355
  OMIM ID: 220111
  MedGen ID: 387801
  Orphanet ID: 70472
  SNOMED CT ID: 718219002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SURF1	OTAINRSS	Strong	Biomarker	[1]
COX3	OTNNGBYJ	Definitive	Genetic Variation	[2]
LRPPRC	OTXSK5LP	Definitive	Autosomal recessive	[3]
SLIRP	OT2M7VH6	Definitive	Altered Expression	[4]

References

• [1] Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 Dec 2.
• [2] The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA.Biochem J. 2004 Aug 15;382(Pt 1):331-6. doi: 10.1042/BJ20040469.
• [3] Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. doi: 10.1073/pnas.242716699. Epub 2003 Jan 14.
• [4] Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.Hum Mol Genet. 2015 Jan 15;24(2):480-91. doi: 10.1093/hmg/ddu468. Epub 2014 Sep 11.