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calcification","onset_id":null,"reference":"PMID:1333717","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fe9f93afc1cd30c38904ea5e9c74ef43cdd55c27f8264e6254d4bf459ff1c414","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:85212","disease_name":"Fetal Gaucher disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001873","is_excluded":false,"label":"Thrombocytopenia","onset_id":null,"reference":"ORPHA:85212","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/gaucher-disease\">Gaucher disease</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the GBA1 gene cause Gaucher disease. The GBA1 gene provides instructions for making an enzyme called lysosomal acid glucosylceramidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Variants in the GBA1 gene greatly reduce or eliminate the activity of lysosomal acid glucosylceramidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/gaucher-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Gaucher disease?"},{"bodyHtml":"<p>Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), bone abnormalities such as bone pain and fractures, and joint conditions such as arthritis.</p><p>Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.</p><p>The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.</p><p>Another form of Gaucher disease is known as the cardiovascular type (or type 3c) because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/gaucher-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"gaucher-disease","sourceDocuments":[{"name":"Gaucher disease","reviewed":"2008-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:42.322368+00:00","label":"Causes","pageSha256":"edc3005c784fba2ca54199c26155bec9e5435c204acd23dc6bd5f924557e2853","sourceUrl":"https://medlineplus.gov/genetics/condition/gaucher-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/gaucher-disease"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Gaucher disease"},"schemaVersion":1}