Autosomal dominant progressive external ophthalmoplegia

disorder

SNOMED 827115000CUI C5231255

Overview

Autosomal dominant 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.

External ophthalmoplegia

Very frequent (80-99%)HP:0000544

Eye drop

Very frequent (80-99%)HP:0000508

Abnormality of the mitochondrion

Frequent (30-79%)HP:0012103

Decreased activity of cytochrome C oxidase in muscle tissue

Frequent (30-79%)HP:0003688

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Extraocular muscle palsy

Frequent (30-79%)HP:0000597

Eye movement issue

Frequent (30-79%)HP:0000496

Eye muscle paralysis

Frequent (30-79%)HP:0000602

Facial muscle weakness of muscles innervated by CN VII

Frequent (30-79%)HP:0010628

Hypomimic face

Frequent (30-79%)HP:0000338

Limb muscle weakness

Frequent (30-79%)HP:0003690

Mitochondrial myopathy

Frequent (30-79%)HP:0003737

Myopathy

Frequent (30-79%)HP:0003198

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Quadriceps weakness

Frequent (30-79%)HP:0003731

Ragged-red muscle fibers

Frequent (30-79%)HP:0003200

Shoulder weakness

Frequent (30-79%)HP:0003547

Slowness of movements

Frequent (30-79%)HP:0002067

Tiredness

Frequent (30-79%)HP:0012378

Tremor at rest

Frequent (30-79%)HP:0002322

Abnormal glucose tolerance

Occasional (5-29%)HP:0001952

Abnormal heart rate

Occasional (5-29%)HP:0011675

Anxiety disease

Occasional (5-29%)HP:0000739

Ataxia

Occasional (5-29%)HP:0001251

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Axonal neuropathy

Occasional (5-29%)HP:0003477

Bilateral facial weakness

Occasional (5-29%)HP:0001349

Cogwheel rigidity

Occasional (5-29%)HP:0002396

Decreased muscle movement

Occasional (5-29%)HP:0002375

Deglutition disorder

Occasional (5-29%)HP:0002015

Related Conditions

Autosomal dominant progressive external ophthalmoplegia type 4(child)

Autosomal dominant progressive external ophthalmoplegia type 1(child)

Autosomal dominant progressive external ophthalmoplegia type 2(child)

Autosomal dominant progressive external ophthalmoplegia type 5(child)

Autosomal dominant progressive external ophthalmoplegia type 3(child)

Hereditary disorder of the visual system(parent)

Autosomal dominant hereditary disorder(parent)

Progressive external ophthalmoplegia(parent)

Hereditary disorder of musculoskeletal system(parent)

Chronic metabolic disease(parent)

Mitochondrial cytopathy(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 827115000
UMLS CUI: C5231255
Fully Specified Name: Autosomal dominant 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.