Overview
Sengers syndrome 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.
Decreased activity of mitochondrial complex IV
Always present (100%)HP:0008347
Depletion of mitochondrial DNA in muscle tissue
Always present (100%)HP:0009141
Respiratory complex I deficiency
Always present (100%)HP:0011923
Respiratory complex III deficiency
Always present (100%)HP:0011924
Cardiomyopathy, hypertrophic
Very frequent (80-99%)HP:0001639
Cataract
Very frequent (80-99%)HP:0000518
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Lacticacidosis
Very frequent (80-99%)HP:0003128
Myopathy
Very frequent (80-99%)HP:0003198
Squint
Very frequent (80-99%)HP:0000486
Heart stops beating
Frequent (30-79%)HP:0001695
Intellectual deterioration
Frequent (30-79%)HP:0001268
Muscle weakness, generalised
Frequent (30-79%)HP:0003324
Near sighted
Frequent (30-79%)HP:0000545
No development of motor milestones
Frequent (30-79%)HP:0001270
Osteopenia
Frequent (30-79%)HP:0000938
Premature menopause
Frequent (30-79%)HP:0008209
Primary pulmonary hypertension
Frequent (30-79%)HP:0002092
Respiratory function loss
Frequent (30-79%)HP:0002093
Sudden cardiac death
Frequent (30-79%)HP:0001645
Thrombocytopenia
Frequent (30-79%)HP:0001873
Abnormal ERG
Occasional (5-29%)HP:0000512
Corneal dystrophy
Occasional (5-29%)HP:0001131
Glaucoma
Occasional (5-29%)HP:0000501
3-Methylglutaconic aciduria
HP:0003535
Cataract, congenital
HP:0000519
Central hypotonia
HP:0001252
Easy fatigability
HP:0003388
Exercise-induced lactic acidemia
HP:0004901
Generalised decreased muscle tone
HP:0001290
Related Conditions
Mitochondrial myopathy(parent)
Congenital cataract(parent)
Recessive hereditary disorder (autosomal)(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the visual system(parent)
Hypertrophic mitochondrial cardiomyopathy(parent)
Congenital anomaly of myocardium(parent)
Developmental hereditary disorder(parent)
Secondary myopathy(parent)
Quick Facts
- SNOMED CT
- 717812000
- UMLS CUI
- C1859317
- Fully Specified Name
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (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.