Combined oxidative phosphorylation defect type 5

disorder

SNOMED 724279004CUI C2673642

Overview

Combined oxidative phosphorylation defect type 5 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cardiomyopathy, hypertrophic

Always present (100%)HP:0001639

Decreased activity of mitochondrial complex I

Always present (100%)HP:0011923

Decreased activity of mitochondrial complex III

Always present (100%)HP:0011924

Decreased activity of mitochondrial complex IV

Always present (100%)HP:0008347

Fetal skin edema

Always present (100%)HP:0025672

Generalised decreased muscle tone

Always present (100%)HP:0001290

High blood ammonia levels

Always present (100%)HP:0001987

Lacticacidemia

Always present (100%)HP:0003128

Respiratory complex deficiency, ATPase deficiency

Always present (100%)HP:0011925

Decreased size of cranium

HP:0000252

Delayed myelination

HP:0012448

Edema

HP:0000969

Higher than normal levels of lactate in blood

HP:0002151

Hypoplasia of corpus callosum

HP:0002079

Leukoencephalopathy

HP:0002352

Low-set ears

HP:0000369

Metabolic acidosis

HP:0001942

Morphologic abnormality of the renal tubules

HP:0000091

Muscular hypotonia

HP:0001252

Peritoneal effusion

HP:0001541

Poor growth

HP:0001510

Posteriorly angulated ears

HP:0000358

Psychomotor development deficiency

HP:0001263

Redundant neck skin

HP:0005989

Retrognathia

HP:0000278

Seizures

HP:0001250

Spastic quadriplegia

HP:0002510

Truncal hypotonia

HP:0008936

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Mitochondrial cytopathy(parent)

Quick Facts

SNOMED CT: 724279004
UMLS CUI: C2673642
Fully Specified Name: Combined oxidative phosphorylation defect type 5 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.