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Mulibrey Nanism (Mulibrey Nanism Syndrome)

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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.

Also Known As:

Mulibrey Nanism Syndrome; Syndrome, Mulibrey Nanism; Muscle-Liver-Brain-Eye Nanism; Perheentupa Syndrome; Muscle Liver Brain Eye Nanism; Nanism Syndrome, Mulibrey; Nanism, Muscle-Liver-Brain-Eye; Syndrome, Perheentupa; Nanism, Mulibrey

Networked: 15 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Constrictive Pericarditis
2.	Atrial Heart Septal Defects (Atrial Septal Defect)
3.	Heart Failure
4.	Growth Disorders
5.	Fetal Growth Retardation (Intrauterine Growth Retardation)

Experts

1.	Lipsanen-Nyman, Marita: 4 articles (04/2009 - 08/2005)
2.	Lehesjoki, Anna-Elina: 3 articles (04/2009 - 08/2005)
3.	Kallijärvi, Jukka: 3 articles (04/2009 - 08/2005)
4.	Jalanko, Hannu: 2 articles (07/2007 - 12/2005)
5.	Karlberg, Niklas: 2 articles (07/2007 - 12/2005)
6.	Hofbeck, Michael: 1 article (10/2013)
7.	Andrews, Rachel: 1 article (10/2013)
8.	Christov, Georgi: 1 article (10/2013)
9.	Hurst, Jane: 1 article (10/2013)
10.	Ashworth, Michael: 1 article (10/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mulibrey Nanism:

1.	Natriuretic PeptidesIBA 05/01/2007 - "The purpose of this study was to evaluate left ventricular (LV) diastolic and systolic function in children with mulibrey nanism utilizing two- and three- dimensional (2-D and 3-D) echocardiography and measurement of serum levels of natriuretic peptides. "
2.	UbiquitinIBA 08/01/2005 - "These findings suggest that TRIM37 acts as a TRIM domain-dependent E3 ubiquitin ligase and imply defective ubiquitin-dependent degradation of an as-yet-unidentified target protein in the pathogenesis of mulibrey nanism." 08/01/2005 - "TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase." 06/29/2001 - "We have identified three new tumor necrosis factor-receptor associated factor (TRAF) domain-containing proteins in humans using bioinformatics approaches, including: MUL, the product of the causative gene in Mulibrey Nanism syndrome; USP7 (HAUSP), an ubiquitin protease; and SPOP, a POZ domain-containing protein. "
3.	Growth Hormone (Somatotropin)IBA 07/01/2007 - "We evaluated the natural growth pattern and long-term impact of growth hormone treatment in the largest cohort of subjects with mulibrey nanism to date. " 07/01/2007 - "Growth and growth hormone therapy in subjects with mulibrey nanism." 06/01/1993 - "A combination of humoral immunodeficiency and isolated growth hormone deficiency was observed in a girl with Mulibrey nanism. " 06/01/1993 - "Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism."
4.	SilverIBA 01/01/1995 - "Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. " 06/01/2011 - "However, IUGR can also be a significant feature of many recognized genetic syndromes including Silver-Russel syndrome (SRS), Three M syndrome (3-M), Dubowitz syndrome, and Mulibrey nanism. "
5.	Proteins (Proteins, Gene)IBA 10/01/2001 - "We studied the expression of MUL, a gene encoding a novel member of the RING-B-Box-Coiled Coil family of zinc finger proteins that underlies the human inherited disorder, Mulibrey nanism. " 06/29/2001 - "We have identified three new tumor necrosis factor-receptor associated factor (TRAF) domain-containing proteins in humans using bioinformatics approaches, including: MUL, the product of the causative gene in Mulibrey Nanism syndrome; USP7 (HAUSP), an ubiquitin protease; and SPOP, a POZ domain-containing protein. "
6.	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 08/01/2005 - "These findings suggest that TRIM37 acts as a TRIM domain-dependent E3 ubiquitin ligase and imply defective ubiquitin-dependent degradation of an as-yet-unidentified target protein in the pathogenesis of mulibrey nanism." 08/01/2005 - "TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase."
7.	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 06/29/2001 - "We have identified three new tumor necrosis factor-receptor associated factor (TRAF) domain-containing proteins in humans using bioinformatics approaches, including: MUL, the product of the causative gene in Mulibrey Nanism syndrome; USP7 (HAUSP), an ubiquitin protease; and SPOP, a POZ domain-containing protein. "
8.	Complementary DNA (cDNA)IBA 04/01/2009 - "To investigate the possible involvement of TRIM37 alterations in the pathogenesis of sporadic fibrothecomas, we analyzed the TRIM37 cDNA for mutations and alternatively spliced transcripts and TRIM37 expression in fibrothecomas of women without Mulibrey nanism. "
9.	Staphylococcal Protein A (A, Protein)IBA 04/01/2009 - "Mulibrey nanism is an autosomal recessive growth disorder caused by mutations in the TRIM37 gene encoding a protein of unknown function. "
10.	Glucose (Dextrose)FDA LinkGeneric 12/01/2005 - "We evaluated the glucose and lipid metabolism in 65 patients (aged 1.1-55 years) with mulibrey (muscle-liver-brain-eye) nanism (MUL), which is a monogenic disorder with prenatal-onset growth failure and typical clinical characteristics. "

Therapies and Procedures

Pericardiectomy

10/01/2013 - "We report a case of Mulibrey nanism in a patient of non-Finnish origin, where a thoracoscopic pericardiectomy helped in good palliation and clinical recovery. "
10/01/2013 - "Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism."
10/01/2013 - "Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37."
01/01/2011 - "We report a 35-year-old Iranian female who presented with classic phenotypic features of Mulibrey nanism with symptomatic constrictive pericarditis and underwent pericardiectomy. "