Combined oxidative phosphorylation deficiency 11

Preferred Label : Combined oxidative phosphorylation deficiency 11;

Symbol : COXPD11;

CISMeF acronym : COXPD11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephaloneuromyopathy, infantile, due to mitochondrial translation defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the required for meiotic nuclear division 1 homolog gene (RMND1, 614917.0001);

Laboratory abnormalities : Increased serum lactate; Increased CSF lactate;

Prefixed ID : #614922;

Details

Origin ID

614922;

UMLS CUI

C5190991;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 11 [ORDO Disease]
- Combined oxidative phosphorylation defect type 11 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 11 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 11 [DO Concept]
Genes related to phenotype
- Required for meiotic nuclear division 1 homolog [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Cardiomyopathy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Decreased liver function [HPO term]
- Delayed myelination [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Myoclonus [HPO term]
- Myopathy [HPO term]
- Pachygyria [HPO term]
- Peripheral neuropathy [HPO term]
- Renal cyst [HPO term]
- Renal dysplasia [HPO term]
- Renal hypoplasia [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular acidosis [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Tongue fasciculations [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 11 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 11 (disorder) [SNOMED CT concept]

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