Combined oxidative phosphorylation deficiency 12

Preferred Label : Combined oxidative phosphorylation deficiency 12;

Symbol : COXPD12;

CISMeF acronym : COXPD12; LTBL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LTBL; Leukoencephalopathy with thalamus and brainstem involvement and high lactate;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamyl-tRNA synthetase 2 gene (EARS2, 612799.0001);

Laboratory abnormalities : Increased serum lactate; Abnormal liver enzymes, intermittent (1 patient); Increased alpha-fetoprotein (1 patient);

Prefixed ID : #614924;

Details

Origin ID

614924;

UMLS CUI

C4706421;

Currated CISMeF NLP mapping
- Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) [SNOMED CT concept]
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [ORDO Disease]
- combined oxidative phosphorylation deficiency 12 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 12 [DO Concept]
Genes related to phenotype
- Glutamyl-trna synthetase 2, mitochondrial [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Cholestasis [HPO term]
- Cleft palate [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]
- Developmental regression [HPO term]
- Dysplastic corpus callosum [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Leukoencephalopathy [HPO term]
- Macrovesicular hepatic steatosis [HPO term]
- Neonatal hypotonia [HPO term]
- Ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Seizure [HPO term]
- Spastic tetraparesis [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) [SNOMED CT concept]
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients