Coenzyme A synthase protein associated neurodegeneration

disorder

SNOMED 732264002CUI C4517377

Overview

Coenzyme A synthase protein associated neurodegeneration 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.

Dystonic disease

Always present (100%)HP:0001332

Length dependent motor neuropathy

Always present (100%)HP:0007002

Poor school performance

Always present (100%)HP:0001249

Walking on tiptoes

Always present (100%)HP:0030051

Abnormal caudate nucleus morphology

Very frequent (80-99%)HP:0002339

Abnormal corpus striatum morphology

Very frequent (80-99%)HP:0010994

Abnormal globus pallidus morphology

Very frequent (80-99%)HP:0002453

Abnormal thalamus morphology

Very frequent (80-99%)HP:0010663

Cognitive deficits

Very frequent (80-99%)HP:0100543

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Eye of the tiger anomaly of globus pallidus

Very frequent (80-99%)HP:0002454

Gait disturbance

Very frequent (80-99%)HP:0001288

OCD

Very frequent (80-99%)HP:0000722

Oromandibular dystonia

Very frequent (80-99%)HP:0012048

Parkinsonian disease

Very frequent (80-99%)HP:0001300

Peripheral axonal neuropathy

Very frequent (80-99%)HP:0003477

Abnormal postural reaction

Frequent (30-79%)HP:0033329

Areflexia in lower limbs

Frequent (30-79%)HP:0002522

Cavus foot

Frequent (30-79%)HP:0001761

Delayed ability to walk

Frequent (30-79%)HP:0031936

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Motor tics

Frequent (30-79%)HP:0100034

Muscle rigidity

Frequent (30-79%)HP:0002063

Spastic quadriplegia

Frequent (30-79%)HP:0002510

Depression

HP:0000716

Hypoplasia of corpus callosum

HP:0002079

Hyporeflexia

HP:0001265

Intellectual deterioration

HP:0001268

Loss of milestones

HP:0002376

Neuro-degenerative disease

HP:0002180

Related Conditions

Iron overload(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 732264002
UMLS CUI: C4517377
Fully Specified Name: Coenzyme A synthase protein associated neurodegeneration (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.