Isolated mitochondrial respiratory chain complex V deficiency

disorder

SNOMED 780820008CUI C4757950

Overview

Isolated mitochondrial respiratory chain complex V 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.

3-Methylglutaconic aciduria

Frequent (30-79%)HP:0003535

Ataxia

Frequent (30-79%)HP:0001251

Cardiac arrhythmias

Frequent (30-79%)HP:0011675

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Encephalopathy

Frequent (30-79%)HP:0001298

High blood ammonia levels

Frequent (30-79%)HP:0001987

Increased serum alanine

Frequent (30-79%)HP:0003348

Laboured breathing

Frequent (30-79%)HP:0002098

Lacticacidemia

Frequent (30-79%)HP:0003128

Muscle weakness

Frequent (30-79%)HP:0001324

Muscular hypotonia

Frequent (30-79%)HP:0001252

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Neuropathy

Frequent (30-79%)HP:0009830

No development of motor milestones

Frequent (30-79%)HP:0001270

Seizures

Frequent (30-79%)HP:0001250

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Cataract

Occasional (5-29%)HP:0000518

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Decreased activity of gonads

Occasional (5-29%)HP:0000135

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Dystonic movements

Occasional (5-29%)HP:0001332

Enlarged liver

Occasional (5-29%)HP:0002240

Eye drop

Occasional (5-29%)HP:0000508

Hypothyroidism

Occasional (5-29%)HP:0000821

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Languor

Occasional (5-29%)HP:0001254

Legal blindness

Occasional (5-29%)HP:0000618

Related Conditions

Deficiency in enzyme complexes of mitochondrial respiratory chain(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 780820008
UMLS CUI: C4757950
Fully Specified Name: Isolated adenosine triphosphate synthase 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.