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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. One process that occurs in the Golgi apparatus is glycosylation, by which sugar molecules (oligosaccharides) are attached to proteins and fats. Glycosylation modifies proteins so they can perform a wider variety of functions.</p><p>The COG complex takes part in the transport of proteins, including those that perform glycosylation, in the Golgi apparatus. COG5 gene mutations reduce the amount of COG5 protein or eliminate it completely, which disrupts protein transport. This disruption results in abnormal protein glycosylation, which can affect numerous body systems, leading to the signs and symptoms of COG5-CDG. The severity of COG5-CDG is related to the amount of COG5 protein that remains in cells.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes COG5-congenital disorder of glycosylation?"},{"bodyHtml":"<p>Individuals with COG5-CDG typically develop signs and symptoms of the condition during infancy. These individuals often have weak muscle tone (hypotonia) and delayed development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals never learn to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive facial features, which can include ears that are set low and rotated backward, a short neck with a low hairline in the back, and a prominent nose. Less commonly, affected individuals can have hearing loss caused by changes in the inner ear (sensorineural hearing loss), vision impairment, damage to the nerves that control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cog5-congenital-disorder-of-glycosylation","sourceDocuments":[{"name":"COG5-congenital disorder of glycosylation","reviewed":"2014-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:25.623786+00:00","label":"Causes","pageSha256":"cf0300131e21abb9763a790f459d99930c42a9383fe3e8db6f04b596fa15390a","sourceUrl":"https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation"}],"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":"COG5-congenital disorder of glycosylation"},"schemaVersion":1}