Mulibrey Nanism (Mulibrey Nanism Syndrome)

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: 27 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Constrictive Pericarditis
2.	Neoplasms (Cancer)
3.	Heart Failure
4.	Growth Disorders
5.	Peroxisomal Disorders (Peroxisomal Disorder)

Experts

1.	Lipsanen-Nyman, Marita: 8 articles (01/2021 - 05/2002)
2.	Kallijärvi, Jukka: 5 articles (04/2009 - 05/2002)
3.	Lehesjoki, Anna-Elina: 5 articles (04/2009 - 05/2002)
4.	Jalanko, Hannu: 4 articles (01/2020 - 12/2005)
5.	Karlberg, Niklas: 4 articles (01/2017 - 12/2005)
6.	Karlberg, Susann: 3 articles (01/2020 - 04/2009)
7.	Lipsanen-Nyman, M: 3 articles (05/2007 - 07/2000)
8.	Balestra, Fernando R: 2 articles (12/2021 - 01/2021)
9.	Domínguez-Calvo, Andrés: 2 articles (12/2021 - 01/2021)
10.	Gönczy, Pierre: 2 articles (12/2021 - 01/2021)

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.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "Mulibrey nanism (MUL) is a rare growth restriction disorder with multiple organ manifestations caused by genetic defects affecting the TRIM37 protein. " 01/01/2017 - "Therefore, TRIM37-mediated ubiquitylation stabilizes PEX5 and promotes peroxisomal matrix protein import, suggesting that mulibrey nanism is a new PBD." 01/01/2017 - "Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. " 09/01/2006 - "Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues." 08/01/2005 - "Mutations in TRIM37 encoding a tripartite motif (TRIM, RING-B-box-coiled-coil)-family protein underlie mulibrey nanism. "
3.	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 12/01/2021 - "Loss of function mutations in the E3 ubiquitin ligase TRIM37 result in MULIBREY nanism, a disease characterized by impaired organ growth and a high propensity to develop different tumor types. " 01/01/2021 - "TRIM37 is an E3 ubiquitin ligase mutated in Mulibrey nanism, a disease with impaired organ growth and increased tumor formation. " 08/01/2005 - "TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase." 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."
4.	UbiquitinIBA 08/01/2005 - "TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase." 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." 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. "
5.	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. "
6.	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. "
7.	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. "
8.	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."
9.	Peptide Hydrolases (Proteases)FDA Link 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. "
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

1.	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. " 01/01/2022 - "The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report." 01/01/2022 - "We present a case of a patient with Mulibrey nanism syndrome who underwent pericardiectomy at 12 years old and was able to live 44 years more with relatively stable and asymptomatic diastolic congestive heart failure (CHF). " 01/01/2018 - "Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism." 10/01/2013 - "Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism."
2.	Heart Transplantation (Grafting, Heart) 01/01/2020 - "We highlight the use of cardiac transplantation as a definitive management for a hemodynamically decompensated patient with Mulibrey nanism syndrome." 01/01/2020 - "Mulibrey Nanism Syndrome: A Case for Heart Transplantation."
3.	Therapeutics 07/01/2007 - "Growth and growth hormone therapy in subjects with mulibrey nanism."