Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

disorder

SNOMED 784370005CUI C5191317

Overview

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 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.

Decreased activity of cytochrome C oxidase in muscle tissue

Very frequent (80-99%)HP:0003688

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Increased muscle glycogen content

Very frequent (80-99%)HP:0009051

Increased muscle lipid content

Very frequent (80-99%)HP:0009058

Muscle weakness

Very frequent (80-99%)HP:0001324

Myopathy

Very frequent (80-99%)HP:0003198

Ragged-red muscle fibers

Very frequent (80-99%)HP:0003200

Decreased activity of mitochondrial complex I

Frequent (30-79%)HP:0011923

Hyporeflexia

Frequent (30-79%)HP:0001265

Laboured breathing

Frequent (30-79%)HP:0002098

Mildly elevated creatine kinase

Frequent (30-79%)HP:0008180

Severe lactic acidosis

Frequent (30-79%)HP:0004900

Abnormality of the liver

Occasional (5-29%)HP:0001392

Brain and/or spinal cord issue

Occasional (5-29%)HP:0000707

Cardiovascular disease

Occasional (5-29%)HP:0001626

Decreased plasma carnitine

Occasional (5-29%)HP:0003234

Enlarged liver

Occasional (5-29%)HP:0002240

High arched palate

Occasional (5-29%)HP:0000218

Lingual hyperplasia

Occasional (5-29%)HP:0000158

Nasogastric tube feeding in infancy

Occasional (5-29%)HP:0011470

Poor sucking

Occasional (5-29%)HP:0002033

Respiratory distress requiring endotracheal intubation

Occasional (5-29%)HP:0004887

Ventilator dependence with inability to wean

Occasional (5-29%)HP:0005946

Delayed gross motor development

Very rare (1-4%)HP:0002194

Related Conditions

Mitochondrial myopathy(parent)

Cytochrome-c oxidase deficiency(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 784370005
UMLS CUI: C5191317
Fully Specified Name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.