Just diagnosed with Gaucher disease?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Gaucher disease, look for clinical trials, and connect with others living with it — all in one place.
Open the full interactive Gaucher disease hub →Overview
Gaucher disease is a rare condition. Also known as Acid beta-glucosidase deficiency, Glucocerebrosidase deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Gaucher disease so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:355 · OMIM 230800, 230900, 231000 · ICD-10 E75.2 · GARD 0008233
Find care for Gaucher disease
Authoritative references for Gaucher disease
Research & market landscape for Gaucher disease
Following Gaucher disease for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Gaucher disease — the real-world landscape behind the condition, in one place.
- Latest Gaucher disease research on PubMed ↗
- Recruiting Gaucher disease trials on ClinicalTrials.gov ↗
- Explore the Gaucher disease research & specialist footprint on Tomeko
Researchers, patient organizations & industry: Tomeko provides de-identified, no-PHI demand and engagement signal, trial awareness, and a labeled, editorially-firewalled presence for Gaucher disease and every rare condition. See how Tomeko works with industry →
Common questions
What is Gaucher disease?
Gaucher disease is a rare condition. Also known as Acid beta-glucosidase deficiency, Glucocerebrosidase deficiency. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Gaucher disease together in one place.
What are the symptoms of Gaucher disease?
Symptoms of Gaucher disease vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats Gaucher disease.
How is Gaucher disease treated?
Treatment for Gaucher disease depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Gaucher disease, and review current options with them.
What causes Gaucher disease — is it genetic?
The cause and inheritance of Gaucher disease are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Gaucher disease can explain what it means for you and your family.
I was just diagnosed with Gaucher disease — what should I do first?
Start by learning the basics from an authoritative source, find a specialist or center that sees Gaucher disease, and connect with a patient organization. Tomeko brings these together on one hub.
Where can I find a specialist for Gaucher disease?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Gaucher disease, filtered to your area.
Are there clinical trials for Gaucher disease?
Tomeko shows live, recruiting studies for Gaucher disease from ClinicalTrials.gov on the hub.
Related conditions
Other conditions on Tomeko you may be looking for:
- 2-aminoadipic 2-oxoadipic aciduria
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- 3-Hydroxyisobutyric aciduria
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- 3-methylglutaconic aciduria type 1
- 3-Methylglutaconic aciduria type 2
- 3-Methylglutaconic aciduria type 3