Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

disorder

SNOMED 733599009CUI C4518838

Overview

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK 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.

Adult onset sensorineural hearing impairment

Frequent (30-79%)HP:0008615

Bilateral ptosis

Frequent (30-79%)HP:0001488

Deglutition disorder

Frequent (30-79%)HP:0002015

External ophthalmoplegia, progressive

Frequent (30-79%)HP:0000590

Limb-girdle muscle weakness

Frequent (30-79%)HP:0003325

Limb-girdle myopathy

Frequent (30-79%)HP:0003797

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Peripheral sensory axonal neuropathy

Frequent (30-79%)HP:0003390

Ataxia

Occasional (5-29%)HP:0001251

Cataract

Occasional (5-29%)HP:0000518

Cognitive deficits

Occasional (5-29%)HP:0100543

Depression

Occasional (5-29%)HP:0000716

Dysphonia

Occasional (5-29%)HP:0001618

Hip-girdle muscle weakness

Occasional (5-29%)HP:0003749

Muscle pain

Occasional (5-29%)HP:0003326

Muscle spasm

Occasional (5-29%)HP:0003394

Optic atrophy

Occasional (5-29%)HP:0000648

Progressive dementia

Occasional (5-29%)HP:0000726

Prostration

Occasional (5-29%)HP:0025406

Squint

Occasional (5-29%)HP:0000486

Viral infection-induced rhabdomyolysis

Occasional (5-29%)HP:0003558

Related Conditions

Mitochondrial myopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Depletion of mitochondrial DNA(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 733599009
UMLS CUI: C4518838
Fully Specified Name: Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.