McLeod neuroacanthocytosis syndrome

disorder

SNOMED 724172004CUI C0398568

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Acanthocytosis

Always present (100%)HP:0001927

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Absent Achilles reflex

Very frequent (80-99%)HP:0003438

Choreatic disease

Very frequent (80-99%)HP:0002072

Increased lactate dehydrogenase level

Very frequent (80-99%)HP:0025435

Myopathy

Very frequent (80-99%)HP:0003198

Reduced haptoglobin level

Very frequent (80-99%)HP:0020181

Alanine aminotransferase increased

Frequent (30-79%)HP:0031964

Areflexia of upper limbs

Frequent (30-79%)HP:0012046

Decreased vibration sense in feet

Frequent (30-79%)HP:0006938

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dystonic disease

Frequent (30-79%)HP:0001332

Elevated gamma-glutamyltransferase level

Frequent (30-79%)HP:0030948

Elevated serum aspartate aminotransferase

Frequent (30-79%)HP:0031956

Enlarged liver

Frequent (30-79%)HP:0002240

Epilepsy

Frequent (30-79%)HP:0001250

Large spleen

Frequent (30-79%)HP:0001744

Muscle weakness

Frequent (30-79%)HP:0001324

Breakdown of skeletal muscle

Occasional (5-29%)HP:0003201

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Quivering upper heart chambers resulting in irregular heartbeat

Occasional (5-29%)HP:0005110

Stretched and thinned heart muscle

Occasional (5-29%)HP:0001644

Anxiety disease

HP:0000739

Depressive episode

HP:0000716

Dyskinesia

HP:0100660

Generalised-onset seizure

HP:0002197

Length dependent motor neuropathy

HP:0007002

OCD

HP:0000722

Personality disorder

HP:0012075

Related Conditions

Hereditary acanthocytosis(parent)

Disorder of basal ganglia(parent)

Extrapyramidal disease(parent)

Hereditary disorder of nervous system(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 724172004
UMLS CUI: C0398568
Fully Specified Name: McLeod neuroacanthocytosis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.