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density","onset_id":null,"reference":"ORPHA:77297","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/majeed-syndrome\">Majeed syndrome</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 called mutations) in the LPIN2 gene cause Majeed syndrome. This gene provides instructions for making a protein called lipin-2. Lipin-2 helps regulate the inflammatory response, the first step in the immune system&#x27;s response to injury. Lipin-2 is also thought to play a role in bone remodeling, the process by which old bone is removed and replaced by new bone.</p><p>Variants in the LPIN2 gene alter the structure and function of lipin-2. Research into how these gene variants cause the specific signs and symptoms of Majeed syndrome is still ongoing. Changes in the lipin-2 protein cause people with Majeed syndrome to produce more molecules that promote inflammation. In addition, individuals with Majeed syndrome produce more osteoclasts, which are cells that break down bone tissue. In people with Majeed syndrome, the overly active immune response leads to chronic inflammation and fevers, while the increased production of osteoclasts leads to excessive bone inflammation and remodeling.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/majeed-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Majeed syndrome?"},{"bodyHtml":"<p>One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of bone pain and joint swelling. These symptoms continue into adulthood, although they may improve for short periods. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints.</p><p>Another feature of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of anemia, all of which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body&#x27;s tissues. This can cause tiredness (fatigue), weakness, pale skin, and shortness of breath. The complications of congenital dyserythropoietic anemia can range from mild to severe.</p><p>Some people with Majeed syndrome develop an inflammatory disorder of the skin known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/majeed-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"majeed-syndrome","sourceDocuments":[{"name":"Majeed syndrome","reviewed":"2024-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:03.668246+00:00","label":"Causes","pageSha256":"ba10ee4d6769f00e17737cadd0767bdd18d3e9813dce552a0ff8797236146354","sourceUrl":"https://medlineplus.gov/genetics/condition/majeed-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/majeed-syndrome"}],"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":"Majeed syndrome"},"schemaVersion":1}