Details of Disease

General Information of Disease (ID: DISJC8N8)

• Disease Name: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
• Synonyms: combined oxidative phosphorylation deficiency 16; COXPD16; MRPL44 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 16; combined oxidative phosphorylation defect type 16; combined oxidative phosphorylation deficiency caused by mutation in MRPL44
• Definition: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DISJC8N8: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0014162
  UMLS CUI: C3809339
  OMIM ID: 615395
  MedGen ID: 815669
  Orphanet ID: 352563

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
MRPL44	OT27ZC26	Strong	Autosomal recessive	[1]

References

• [1] Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12.