Autosomal recessive progressive external ophthalmoplegia

disorder

SNOMED 827117008CUI C1850303

Overview

Autosomal recessive progressive external ophthalmoplegia 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.

CPEO

Frequent (30-79%)HP:0000544

Decreased activity of cytochrome C oxidase in muscle tissue

Frequent (30-79%)HP:0003688

Deglutition disorder

Frequent (30-79%)HP:0002015

Disease of the heart muscle

Frequent (30-79%)HP:0001638

Facial muscle weakness of muscles innervated by CN VII

Frequent (30-79%)HP:0010628

Mask-like facies

Frequent (30-79%)HP:0000298

Mitochondrial myopathy

Frequent (30-79%)HP:0003737

Myopathy

Frequent (30-79%)HP:0003198

Paresthesia

Frequent (30-79%)HP:0003401

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Peripheral sensory axonal neuropathy

Frequent (30-79%)HP:0003390

Ragged-red muscle fibers

Frequent (30-79%)HP:0003200

Abnormal cerebrospinal fluid morphology

Occasional (5-29%)HP:0002921

Abnormal retinal morphology

Occasional (5-29%)HP:0000479

Action tremor

Occasional (5-29%)HP:0002345

Ataxia

Occasional (5-29%)HP:0001251

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Cogwheel rigidity

Occasional (5-29%)HP:0002396

Cortical white matter abnormalities seen on MRI

Occasional (5-29%)HP:0002500

Deafness

Occasional (5-29%)HP:0000365

Depression

Occasional (5-29%)HP:0000716

Dyschromatopsia

Occasional (5-29%)HP:0007641

Eyelid ptosis

Occasional (5-29%)HP:0000508

Favourable response to levodopa

Occasional (5-29%)HP:0002548

Hand muscle weakness

Occasional (5-29%)HP:0030237

Hyporeflexia

Occasional (5-29%)HP:0001265

Loss of distal sensation

Occasional (5-29%)HP:0002936

Muscle fiber atrophy

Occasional (5-29%)HP:0100295

Muscle stiffness

Occasional (5-29%)HP:0003552

Optic atrophy

Occasional (5-29%)HP:0000648

Related Conditions

Hereditary disorder of the visual system(parent)

Progressive external ophthalmoplegia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of musculoskeletal system(parent)

Chronic metabolic disease(parent)

Mitochondrial cytopathy(parent)

Quick Facts

SNOMED CT: 827117008
UMLS CUI: C1850303
Fully Specified Name: Autosomal recessive progressive external ophthalmoplegia (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.