Combined oxidative phosphorylation deficiency 31

Preferred Label : Combined oxidative phosphorylation deficiency 31;

Symbol : COXPD31;

CISMeF acronym : COXPD31;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial intermediate peptidase gene (MIPEP, 602241.0001);

Laboratory abnormalities : Increased serum alanine; Increased serum lactate;

Prefixed ID : #617228;

Details

Origin ID

617228;

UMLS CUI

C4310661;

Currated CISMeF NLP mapping
- Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) [SNOMED CT concept]
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome [ORDO Disease]
- combined oxidative phosphorylation deficiency 31 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 31 [DO Concept]
Genes related to phenotype
- Mitochondrial intermediate peptidase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperalaninemia [HPO term]
- Hypertonia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Left ventricular noncompaction [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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