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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Otulipenia is caused by mutations in the OTULIN gene. The protein produced from this gene helps control inflammation. Inflammation can be turned on by a cellular process called ubiquitination, in which molecules called ubiquitin are attached to certain proteins. In particular, signaling pathways that lead to inflammation are stimulated by the attachment of chains of ubiquitin molecules linked end-to-end (linear ubiquitin chains). The OTULIN protein helps control inflammation by removing these linear ubiquitin chains.</p><p>OTULIN gene mutations that cause otulipenia lead to production of an OTULIN protein with reduced function. As a result, removal of linear ubiquitin chains is impaired, and signaling pathways that cause inflammation are abnormally active. The excessive inflammation that results causes fever, diarrhea, panniculitis, and the other signs and symptoms of otulipenia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/otulipenia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Otulipenia?"},{"bodyHtml":"<p>Signs and symptoms of otulipenia usually begin within the first few weeks of life, with recurring episodes of fever; diarrhea; painful, swollen joints; and skin rashes. The skin rashes are due to inflammation of the layer of fatty tissue under the skin (panniculitis), which causes painful red bumps. Some people with otulipenia have an abnormal distribution of fatty tissue in their bodies (lipodystrophy). Affected infants have difficulty growing and gaining weight at the expected rate (failure to thrive). Damage to the body&#x27;s tissues and organs caused by inflammation is life-threatening if the condition is not treated.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/otulipenia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"otulipenia","sourceDocuments":[{"name":"Otulipenia","reviewed":"2016-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:00.677422+00:00","label":"Causes","pageSha256":"2042249d10f96bca01b7b58916b89a611f17451918be128d2a20ca3876ceea7a","sourceUrl":"https://medlineplus.gov/genetics/condition/otulipenia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/otulipenia"}],"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":"Otulipenia"},"schemaVersion":1}