Mitochondrial myopathy with sideroblastic anemia syndrome

disorder

SNOMED 724138007CUI C1838103

Overview

Mitochondrial myopathy with sideroblastic anemia 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 cytochrome C oxidase in muscle tissue

Always present (100%)HP:0003688

Decreased activity of mitochondrial complex IV

Always present (100%)HP:0008347

Hypersideremic anemia

Always present (100%)HP:0001924

Muscle weakness

Always present (100%)HP:0001324

Ragged-red muscle fibers

Always present (100%)HP:0003200

Respiratory complex I deficiency

Always present (100%)HP:0011923

Abnormal electromyography finding

Very frequent (80-99%)HP:0003457

Generalised muscle wasting

Very frequent (80-99%)HP:0009055

High arched palate

Very frequent (80-99%)HP:0000218

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Lacticacidemia

Very frequent (80-99%)HP:0003128

Low number of red blood cells or hemoglobin

Very frequent (80-99%)HP:0001903

Mitochondrial myopathy

Very frequent (80-99%)HP:0003737

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Myopathy

Very frequent (80-99%)HP:0003198

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased size of cranium

Frequent (30-79%)HP:0000252

Delayed puberty

Frequent (30-79%)HP:0000823

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Glaucoma

Frequent (30-79%)HP:0000501

Gowers sign

Frequent (30-79%)HP:0003391

Hunched back

Frequent (30-79%)HP:0002808

Hypopituitarism

Frequent (30-79%)HP:0040075

Increased blood lactate

Frequent (30-79%)HP:0002151

Increased distance between eyes

Frequent (30-79%)HP:0000316

Joint instability

Frequent (30-79%)HP:0001382

Mental deficiency

Frequent (30-79%)HP:0001249

Nasal hypoplasia

Frequent (30-79%)HP:0003196

Related Conditions

Mitochondrial myopathy(parent)

Sideroblastic anemia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of cellular element of blood(parent)

Quick Facts

SNOMED CT: 724138007
UMLS CUI: C1838103
Fully Specified Name: Mitochondrial myopathy with sideroblastic anemia 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.