Details of Disease

General Information of Disease (ID: DISYTTXU)

• Disease Name: Severe X-linked mitochondrial encephalomyopathy
• Synonyms: encephalomyopathy, mitochondrial, X-linked; combined oxidative phosphorylation deficiency 6; COXPD6; mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; combined oxidative phosphorylation deficiency 6, X-linked recessive; mitochondrial encephalomyopathy due to COXPD6; combined oxidative phosphorylation deficiency type 6
• Definition: Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DISYTTXU: Severe X-linked mitochondrial encephalomyopathy
• Disease Identifiers:
  MONDO ID: MONDO_0010437
  UMLS CUI: C3151753
  OMIM ID: 300816
  MedGen ID: 463103
  Orphanet ID: 238329

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
AIFM1	OTKPWB7Q	Strong	X-linked	[1]

References

• [1] Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008.