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Gaucher disease is an inherited condition in which a fatty substance builds up inside cells because the enzyme that clears it is missing or weak. It most often enlarges the liver and spleen and weakens the bones. It comes from GBA1 typos inherited from both parents.
Gaucher disease is an inherited condition that affects many of the body's organs. Every cell has small recycling compartments, and one of their jobs is to break down a fatty substance called glucocerebroside. The enzyme that does it is made from the instructions in the GBA1 gene. When both copies of GBA1 carry a typo, the enzyme is missing or weak, the fat is not cleared, and it builds up until the cells are damaged.
Type 1 is the most common. It usually leaves the brain and spinal cord alone. Its main signs are a swollen liver and spleen, low red blood cell counts, easy bruising from low platelets, and bone and joint problems.
Types 2 and 3 also affect the nervous system. Type 2 is the severe early form; type 3 worsens more slowly. There is also a very rare form of type 2 that is fatal around birth, and a type 3 variant that mainly hardens the heart valves.
Gaucher disease affects about 1 in 50,000 to 100,000 people in the general population. It is far more common in people of Ashkenazi Jewish heritage, at about 1 in 500 to 1,000.
Eliglustat (Cerdelga), a capsule for adults with type 1, slows the making of the fat instead of clearing it. It is broken down by the liver enzyme CYP2D6, so its US label makes a CYP2D6 test part of the prescription and sets the dose by the result. The details are in the medicine note below.
The same gene shows up in large studies of Parkinson's disease and dementia with Lewy bodies. Those are different questions from Gaucher disease, and the positions found in them are not the typos that cause it.
2026-10-07 · Álvarez Jerez P et al. African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1. Nature Structural & Molecular Biology 2024
Parkinson's Disease: A GBA1 Variant Common in African Ancestry Confirmed in 21,917 People
At the October 2026 Parkinson's congress in Seoul, Parkinson's Foundation researchers reported the first large check of rs3115534, a change inside the GBA1 gene that is common in people of African ancestry. Among 21,917 participants it was linked to Parkinson's disease with an odds ratio of 3.22, and carriers developed symptoms about three years earlier (57.4 against 60.3). A 2024 study had shown how it works: it sits where the cell cuts and joins the gene's message, so less of the GBA1 enzyme gets made. The position has a page here, filed under Gaucher disease, the condition two broken copies of GBA1 cause, and ClinVar lists it as benign for Gaucher disease; for Parkinson's it is a risk factor, not a cause. The 2026 result is a congress poster, not yet a peer-reviewed paper.
Gaucher disease is diagnosed by a doctor, usually with a blood test of the enzyme and a test of the GBA1 gene. A consumer DNA file does not diagnose it, and this site does not yet list the GBA1 typos that cause it.
Because two copies are needed, parents who each carry one typo are usually healthy. Each of their children has a 1 in 4 chance of inheriting both. If Gaucher disease runs in your family, a genetic counsellor can explain what testing means for you and your relatives.
Research-derived gene–drug associations only — not a prescription, dosing guide, or medical advice. Always follow your prescriber's guidance.
| Gene | Drug | What the research shows |
|---|---|---|
| CYP2D6 | Eliglustat | Eliglustat (Cerdelga) is a capsule for adults with type 1 Gaucher disease. It slows the body's making of the fat that builds up, so less of it piles into the cells. Here a gene test is part of the prescription: the label says it is for people whose CYP2D6 type has been found by an FDA-cleared test. People with normal or intermediate CYP2D6 take 84 mg twice a day, and people whose CYP2D6 barely works take 84 mg once a day. People whose CYP2D6 works unusually fast may not get enough of the medicine for it to work, and when the test cannot tell the type, the label gives no dose. (CERDELGA (eliglustat) US prescribing information, revised January 2024 (DailyMed): Indications and Usage, and Dosage and Administration. This is the label itself, not a CPIC guideline.) |
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Gaucher Disease. MyGeneLog™. https://www.mygenelog.com/conditions/gaucher-disease
It is an inherited condition in which a fatty substance builds up inside cells because the enzyme that should break it down, made from the GBA1 gene, is missing or weak. Type 1, the most common, mainly swells the liver and spleen and affects the blood and bones.
Yes. It is autosomal recessive: a person has it when both copies of GBA1 carry a typo. Parents who each carry one copy are usually healthy, and each of their children has a 1 in 4 chance of having it.
About 1 in 50,000 to 100,000 people overall, and about 1 in 500 to 1,000 people of Ashkenazi Jewish heritage.
Eliglustat (Cerdelga) is cleared by the CYP2D6 enzyme, which works at very different speeds in different people. Its US label is for people whose CYP2D6 type has been found by an FDA-cleared test, and the dose depends on the result.
The same gene, GBA1, shows up in large studies of Parkinson's disease. That is a separate question from Gaucher disease itself; a doctor or genetic counsellor can explain what it means for a particular family.
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