Combined oxidative phosphorylation defect type 26

disorder

SNOMED 1173034002CUI C5567741

Overview

Combined oxidative phosphorylation defect type 26 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.

Cirrhosis

Always present (100%)HP:0001394

Exertional dyspnea

Always present (100%)HP:0002875

Higher than normal levels of lactate in blood

Always present (100%)HP:0002151

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Lacticacidemia

Always present (100%)HP:0003128

Muscle weakness

Always present (100%)HP:0001324

Poor exercise tolerance

Always present (100%)HP:0003546

Abnormal glucose tolerance

Frequent (30-79%)HP:0001952

Brain wasting

Frequent (30-79%)HP:0012444

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased activity of cytochrome C oxidase in muscle tissue

Frequent (30-79%)HP:0003688

Decreased activity of mitochondrial complex I

Frequent (30-79%)HP:0011923

Decreased activity of mitochondrial complex IV

Frequent (30-79%)HP:0008347

Delayed CNS myelination

Frequent (30-79%)HP:0002188

Elevated glycated haemoglobin

Frequent (30-79%)HP:0040217

Exocrine pancreatic insufficiency

Frequent (30-79%)HP:0001738

Extensor plantar responses

Frequent (30-79%)HP:0003487

Feeding difficulties

Frequent (30-79%)HP:0011968

Glucose in urine

Frequent (30-79%)HP:0003076

Grey sclerae

Frequent (30-79%)HP:0000592

Hypertonia

Frequent (30-79%)HP:0001276

Hyporeflexia

Frequent (30-79%)HP:0001265

Increased reflexes

Frequent (30-79%)HP:0001347

Intestinal malabsorption

Frequent (30-79%)HP:0002024

Inverted triangular face

Frequent (30-79%)HP:0000325

Irritability

Frequent (30-79%)HP:0000737

Muscular hypotonia

Frequent (30-79%)HP:0001252

Narrow mouth

Frequent (30-79%)HP:0000160

Nausea and vomiting

Frequent (30-79%)HP:0002017

Related Conditions

Disorder of mitochondrial respiratory chain complexes(parent)

Mitochondrial cytopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1173034002
UMLS CUI: C5567741
Fully Specified Name: Combined oxidative phosphorylation defect type 26 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.