Details of Disease

General Information of Disease (ID: DISEO02G)

Disease Name Hypotonia with lactic acidemia and hyperammonemia
Synonyms
combined oxidative phosphorylation deficiency 5; combined oxidative phosphorylation deficiency caused by mutation in MRPS22; combined oxidative phosphorylation defect type 5; MRPS22 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 5; COXPD5
Definition This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISEO02G: Hypotonia with lactic acidemia and hyperammonemia
Disease Identifiers
MONDO ID
MONDO_0012718
MESH ID
C567126
UMLS CUI
C2673642
OMIM ID
611719
MedGen ID
435972
Orphanet ID
137908
SNOMED CT ID
724279004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MRPS22 OTIVNAJL Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J Med Genet. 2007 Dec;44(12):784-6. doi: 10.1136/jmg.2007.053116. Epub 2007 Sep 14.