Mulibrey Nanism

Common Name(s)

Mulibrey Nanism, Mulibrey nanism syndrome

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 birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by mutations in the TRIM37 gene and is inherited in an autosomal recessive manner. Treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mulibrey Nanism" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mulibrey Nanism" returned 8 free, full-text research articles on human participants. First 3 results:

A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism.
 

Author(s): Kamil Baczewski, Marek Czajkowski, Krzysztof Olszewski, Adam Stadnik, Janusz Stążka

Journal: Kardiol Pol. 2016 ;74(2):192.

 

Last Updated: 6 May 2016

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Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas.
 

Author(s): Susann Karlberg, Marita Lipsanen-Nyman, Heini Lassus, Jukka Kallijärvi, Anna-Elina Lehesjoki, Ralf Butzow

Journal: Mod. Pathol.. 2009 Apr;22(4):570-8.

 

Mulibrey nanism is an autosomal recessive growth disorder caused by mutations in the TRIM37 gene encoding a protein of unknown function. More than half of female patients with Mulibrey nanism develop benign mesenchymal tumors of ovarian sex cord-stromal origin. In this work, we characterize ...

Last Updated: 1 Apr 2009

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Failure of sexual maturation in Mulibrey nanism.
 

Author(s): Susann Karlberg, Aila Tiitinen, Marita Lipsanen-Nyman

Journal: N. Engl. J. Med.. 2004 Dec;351(24):2559-60.

 

Last Updated: 13 Dec 2004

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Reviews from the PubMed Database

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The terms "Mulibrey Nanism" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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