Combined oxidative phosphorylation deficiency 6

Preferred Label : Combined oxidative phosphorylation deficiency 6;

Symbol : COXPD6;

CISMeF acronym : COXPD6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalomyopathy, mitochondrial, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the mitochondrion-associated apoptosis-inducing factor 1 gene (AIFM1, 300169.0001);

Laboratory abnormalities : Increased lactate in serum and CSF; Increased pyruvate in serum and CSF;

Prefixed ID : #300816;

Details

Origin ID

300816;

UMLS CUI

C3151753;

Automatic exact mappings (from CISMeF team)
- AIFM1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Combined oxidative phosphorylation deficiency type 6 [ICD-11 More detail]
- Severe X-linked mitochondrial encephalomyopathy [ORDO Disease]
- Severe X-linked mitochondrial encephalomyopathy (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 6 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 6 [DO Concept]
Genes related to phenotype
- Apoptosis-inducing factor, mitochondria-associated, 1 [OMIM gene]
HPO term(s)
- Abnormality of the basal ganglia [HPO term]
- Central hypotonia [HPO term]
- Developmental regression [HPO term]
- Fasciculations [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypokinesia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased connective tissue [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Infantile onset [HPO term]
- Involuntary movements [HPO term]
- Muscle weakness [HPO term]
- Polyneuropathy [HPO term]
- Progressive [HPO term]
- Psychomotor retardation [HPO term]
- Ragged-red muscle fibers [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Tetraplegia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Severe X-linked mitochondrial encephalomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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