Gaucher's disease

disorder

SNOMED 190794006CUI C0017205

Overview

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

Treatments & Interventions

Alglucerase

substance

Imiglucerase

substance

Cycloserine

substance

Miglustat

substance

Velaglucerase alfa

substance

Taliglucerase alfa

substance

Eliglustat

substance

Eliglustat tartrate

substance

Signs & Symptoms

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

Decreased haemoglobin

Very frequent (80-99%)HP:0001903

Decreased lysosomal acid glucosylceramidase activity

Very frequent (80-99%)HP:0003656

Enlarged liver

Very frequent (80-99%)HP:0002240

Large spleen

Very frequent (80-99%)HP:0001744

Tiredness

Very frequent (80-99%)HP:0012378

Abnormal bone structure

Frequent (30-79%)HP:0003330

Abnormality of movement

Frequent (30-79%)HP:0100022

Arthritic pain

Frequent (30-79%)HP:0002829

Ataxia

Frequent (30-79%)HP:0001251

Bone pain

Frequent (30-79%)HP:0002653

Death of bone due to decreased blood supply

Frequent (30-79%)HP:0010885

Deglutition disorder

Frequent (30-79%)HP:0002015

Delayed puberty

Frequent (30-79%)HP:0000823

Delayed skeletal development

Frequent (30-79%)HP:0002750

Depression

Frequent (30-79%)HP:0000716

Elevated circulating Angiotensin-converting enzyme concentration

Frequent (30-79%)HP:6000213

Elevated circulating CCL18 level

Frequent (30-79%)HP:0032640

Erlenmeyer flask femora

Frequent (30-79%)HP:0004975

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Gallstones

Frequent (30-79%)HP:0001081

Gastro pain

Frequent (30-79%)HP:0002027

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Increased ferritin

Frequent (30-79%)HP:0003281

Increased fracture rate

Frequent (30-79%)HP:0002757

Joint dislocation

Frequent (30-79%)HP:0001373

Leukopenia

Frequent (30-79%)HP:0001882

Low platelet count

Frequent (30-79%)HP:0001873

Mental-retardation

Frequent (30-79%)HP:0001249

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Osteopenia

Frequent (30-79%)HP:0000938

Related Conditions

Acute neuronopathic Gaucher's disease(child)

Subacute neuronopathic Gaucher's disease(child)

Chronic non-neuropathic Gaucher's disease(child)

Perinatal lethal Gaucher disease(child)

Atypical Gaucher disease due to saposin C deficiency(child)

Sphingolipidosis(parent)

Quick Facts

SNOMED CT: 190794006
UMLS CUI: C0017205
Fully Specified Name: Glucosylceramide beta-glucosidase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 8

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.