Details of Disease

General Information of Disease (ID: DISC92JF)

• Disease Name: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
• Synonyms: COXPD31; MIPEP combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 31; combined oxidative phosphorylation deficiency caused by mutation in MIPEP; combined oxidative phosphorylation deficiency 31
• Definition: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DISC92JF: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014976
  UMLS CUI: C4310661
  OMIM ID: 617228
  MedGen ID: 934628
  Orphanet ID: 478049

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
MIPEP	OTB2IHCT	Strong	Autosomal recessive	[1]

References

• [1] MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 Nov 1;8(1):106. doi: 10.1186/s13073-016-0360-6.