Combined oxidative phosphorylation deficiency 1

Preferred Label : Combined oxidative phosphorylation deficiency 1;

Symbol : COXPD1;

CISMeF acronym : COXPD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hepatoencephalopathy, early fatal progressive;

Description : Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by Smits et al., 2011). - Genetic Heterogeneity of Combined Oxidative Phosphorylation Deficiency See also COXPD2 (610498), caused by mutation in the MRPS16 gene (609204) on chromosome 10q22.1; COXPD3 (610505), caused by mutation in the TSFM gene (604723) on chromosome 12q14; COXPD4 (610678), caused by mutation in the TUFM gene (602389) on chromosome 16p11.2; COXPD5 (611719), caused by mutation in the MRPS22 gene (605810) on chromosome 3q23; COXPD6 (300816), caused by mutation in the AIFM1 gene (300169) on chromosome Xq26; COXPD7 (613559), caused by mutation in the C12ORF65 gene (613541) on chromosome 12q24; COXPD8 (614096), caused by mutation in the AARS2 gene (612035) on chromosome 6p21; COXPD9 (614582), caused by mutation in the MRPL3 gene (607118) on chromosome 3q22; COXPD10 (614702), caused by mutation in the MTO1 gene (614667) on chromosome 6q13; COXPD11 (614922), caused by mutation in the RMND1 gene (614917) on chromosome 6q25;;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial elongation factor G1 gene (GFM1, 606639.0001);

Laboratory abnormalities : Increased serum lactate; Increased cerebrospinal fluid lactate; Increased serum direct bilirubin; Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V;

Prefixed ID : #609060;

Details

Origin ID

609060;

UMLS CUI

C1836797;

Currated CISMeF NLP mapping
- Combined Oxidative Phosphorylation Deficiency 1 [NCIt concept]
- Combined oxidative phosphorylation deficiency type 1 [ICD-11 More detail]
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ORDO Disease]
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 1 [DO Concept]
- combined oxidative phosphorylation deficiency 1 [MeSH concept]
- combined oxidative phosphorylation deficiency 1 [MeSH Supplementary Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 1 [DO Concept]
Genes related to phenotype
- Mitochondrial elongation factor g1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Basal ganglia cysts [HPO term]
- Cholestasis [HPO term]
- Congenital onset [HPO term]
- Decreased activity of mitochondrial ATP synthase complex [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- Decreased spontaneous movements [HPO term]
- Delayed myelination [HPO term]
- Elevated lactate:pyruvate ratio [HPO term]
- Feeding difficulties [HPO term]
- Fulminant hepatic failure [HPO term]
- Global brain atrophy [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypokinesia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Intrauterine growth retardation [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Poor eye contact [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- metabolic acidosis, severe [HPO term]
ORDO concept(s)
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ORDO Disease]
See also inter- (CISMeF)
- GFM1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined Oxidative Phosphorylation Deficiency 1 [NCIt concept]
- Combined oxidative phosphorylation deficiency type 1 [ICD-11 More detail]
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ORDO Disease]
- combined oxidative phosphorylation deficiency 1 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 1 [MeSH concept]
- combined oxidative phosphorylation deficiency 1 [DO Concept]

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