combined oxidative phosphorylation defect type 4

Go to external page http://purl.obolibrary.org/obo/MONDO_0012534


Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. [ Orphanet:254925 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:766876004 (MONDO:equivalentTo)
  • UMLS:C1857682 (Orphanet:254925)
  • MESH:C565690 (MONDO:equivalentTo)
  • DOID:0111494 (MONDO:equivalentTo)
  • Orphanet:254925 (OMIM:610678)
  • OMIM:610678 (Orphanet:254925)
  • ICD10:E88.8 (Orphanet:254925)
Subsets

ordo_disease

abbreviation
COXPD4 [ MONDO:Lexical Orphanet:254925 https://omim.org/entry/610678 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

exactMatch

http://identifiers.org/omim/610678

http://linkedlifedata.com/resource/umls/id/C1857682

http://identifiers.org/snomedct/766876004

http://identifiers.org/mesh/C565690

http://purl.obolibrary.org/obo/DOID_0111494

http://www.orpha.net/ORDO/Orphanet_254925

has exact synonym

combined oxidative phosphorylation deficiency caused by mutation in TUFM

COXPD4

TUFM combined oxidative phosphorylation deficiency

combined oxidative phosphorylation deficiency type 4

has related synonym

combined oxidative phosphorylation deficiency 4

id

MONDO:0012534