Disease or Syndrome
mulibrey nanism
Subclass of:
Dwarfism
Definitions related to mulibrey nanism:
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An autosomal recessive disorder caused by mutation(s) in the TRIM37 gene, encoding E3 ubiquitin-protein ligase TRIM37. Mulibrey is a contraction of muscle, liver, brain, and eyes. "Nanism" is a synonym for "dwarfism". This condition is associated with characteristic facial features, including hypertelorism, pubertal delay, occasional progressive cardiomyopathy, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain.NCI ThesaurusU.S. National Cancer Institute, 2021
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Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low...National Center for Advancing Translational Sciences
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