Disease Atlas / Disease detail

Gaucher disease

An atlas of GBA1-related lysosomal storage, hematologic, visceral, bone and neurologic spectrum, enzyme and substrate-reduction therapy.

Gaucher disease · glucocerebrosidase deficiency

MONDO:0018150Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · d21072c83519

Disease class: Gaucher disease is a lysosomal storage disorder.
Core mechanism: Biallelic GBA1 variants cause this recessive disorder.
Genes or cause: Glucocerebrosidase deficiency causes lipid accumulation.
Typical features: Hepatosplenomegaly, anemia, and thrombocytopenia are common.
Variability: Bone pain, osteonecrosis, and fractures can occur.
Diagnosis: Type 1 and neuronopathic forms span a continuum.
Management: Leukocyte enzyme activity establishes diagnosis.
Treatment and research: GBA1 testing complements diagnosis and counseling.
Reading evidence: Enzyme replacement treats systemic manifestations.
Key caution: Substrate reduction is used in selected patients.

A structured guide for understanding the disease and preparing for clinical conversations.

Gaucher disease is a lysosomal storage disorder.

Hepatosplenomegaly, anemia, and thrombocytopenia are common.

Biallelic GBA1 variants cause this recessive disorder.

Glucocerebrosidase deficiency causes lipid accumulation.

Bone pain, osteonecrosis, and fractures can occur.

Type 1 and neuronopathic forms span a continuum.

Leukocyte enzyme activity establishes diagnosis.

GBA1 testing complements diagnosis and counseling.

Blood, organ, bone, and neurologic status are monitored.

Phenotype, bone risk, and treatment goals require review.

This material is for disease education and is not a personal diagnosis or treatment instruction.

A trial registry status does not establish efficacy or regulatory approval.