{"id":27126,"date":"2024-05-26T13:22:45","date_gmt":"2024-05-26T11:22:45","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27126"},"modified":"2025-08-26T11:35:07","modified_gmt":"2025-08-26T09:35:07","slug":"mulibrey-nanism","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/mulibrey-nanism\/","title":{"rendered":"Mulibrey Nanism"},"content":{"rendered":"

Mulibrey Nanism \u2013\u00a0Definition<\/h2><\/div>
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Mulibrey (muscle, liver, brain, and eye) nanism (MUL; OMIM #253250) is a rare autosomal recessive growth disorder that begins prenatally and is associated with severe growth retardation, a prominent face, constrictive pericarditis, hepatomegaly, male infertility, insulin resistance, and metabolic changes. There is an increased risk of Wilms’ and other tumors.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

Pericardial constriction and growth disturbance; perheentupa syndrome<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

TRIM37<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

TRIM37<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

TRIM37 is an H2A ubiquitin ligase that regulates tumor suppressors and other genes.<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal recessive<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

Extremely rare; in some regions, such as Finland, somewhat more common<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>