Details of Disease

General Information of Disease (ID: DIS89YWA)

• Disease Name: Mitochondrial DNA depletion syndrome 9
• Synonyms: lactic acidosis congenital infantile; lactic acidosis, fatal infantile; lactic acidosis, fatal infantile, formerly; mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria); fatal infantile lactic acidosis with methylmalonic aciduria; MTDPS9; succinate-CoA ligase deficiency; mitochondrial DNA depletion syndrome type 9; SUCLG1 mitochondrial DNA depletion syndrome; mitochondrial DNA depletion syndrome 9; mitochondrial DNA depletion syndrome caused by mutation in SUCLG1
• Definition: Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.
• Disease Hierarchy:
  DISIGZSM: Mitochondrial DNA depletion syndrome
  DISZI1ZK: Lactic acidosis
  DIS4R581: Mitochondrial DNA depletion syndrome, encephalomyopathic form
  DIS89YWA: Mitochondrial DNA depletion syndrome 9
• Disease Identifiers:
  MONDO ID: MONDO_0009504
  UMLS CUI: C3151476
  OMIM ID: 245400
  MedGen ID: 462826
  Orphanet ID: 17

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SUCLG1	OTDCSPXH	Definitive	Autosomal recessive	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.