Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency

disorder

SNOMED 1366189009CUI C3551954

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Decreased level of coenzyme Q10 in skeletal muscle

Always present (100%)HP:0034369

Degeneration of cerebellum

Always present (100%)HP:0001272

Deglutition disorder

Always present (100%)HP:0002015

Diffuse cerebral atrophy

Always present (100%)HP:0002506

Episodic vomiting

Always present (100%)HP:0002572

Focal and segmental glomerulosclerosis

Always present (100%)HP:0000097

Involuntary jerking movements

Always present (100%)HP:0001336

Loss of ambulation

Always present (100%)HP:0002505

Muscular hypotonia

Always present (100%)HP:0001252

Prolonged seizure

Always present (100%)HP:0002133

Proteinuria

Always present (100%)HP:0000093

Psychomotor development deficiency

Always present (100%)HP:0001263

Right hemiplegia

Always present (100%)HP:0040293

Tremor

Always present (100%)HP:0001337

Abnormal retropulsion test

HP:0002172

Ataxia

HP:0001251

Cardiomyopathy, hypertrophic

HP:0001639

Decreased haemoglobin

HP:0001903

Difficulty articulating speech

HP:0001260

Elevated serum creatine phosphokinase

HP:0003236

Encephalopathy

HP:0001298

Epilepsy

HP:0001250

Hepatic failure

HP:0001399

Involuntary, rapid, rhythmic eye movements

HP:0000639

Lacticacidemia

HP:0003128

Nephrosis

HP:0000100

No development of motor milestones

HP:0001270

Pancytopenia

HP:0001876

Poor school performance

HP:0001249

Primary hypogonadism

HP:0000815

Related Conditions

Coenzyme Q10 deficiency(parent)

Quick Facts

SNOMED CT: 1366189009
UMLS CUI: C3551954
Fully Specified Name: Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (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.