Mulibrey nanism
| Mulibrey nanism | |
|---|---|
| Other names | Perheentupa syndrome and Pericardial constriction with growth failure[1] |
 | |
| Mulibrey nanism has an autosomal recessive pattern of inheritance. | |
| Specialty | Rheumatology, medical genetics  |
| Symptoms | Infertility[1] |
| Causes | Mutation of the TRIM37 gene[2] |
| Diagnostic method | Genetic testing[3] |
| Treatment | Growth hormone treatment, Regular pelvic exams[4] |
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism") is a rare
congenital disorder. It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye. TRIM37 is responsible for various cellular functions including developmental patterning.[5][6][7]
Signs/symptoms
An individual with Mulibrey nanism has growth retardation, a short broad neck, misshapen
tumors, and infertility.[1]
Genetics
Mulibrey nanism is caused by mutations of the TRIM37
carry one copy of the defective gene, but usually do not experience any symptoms of the disorder.[medical citation needed
]
Diagnosis
The diagnosis of Mulibrey nanism can be done via genetic testing,[3] as well as by the physical characteristics (signs/symptoms) displayed by the individual.[10]
Treatment
In terms of treatment/management for those with Mulibrey nanism should have routine medical follow-ups, additionally the following can be done:[4]
- Growth hormone treatment
- Regular pelvicexams
- Pericardiectomy
Prevalence
Worldwide, it has been documented in 110 persons, 85 of them
consanguine. Signs and symptoms are variable: siblings who suffer this disease sometimes do not share the same symptoms.[1]
See also
- Wilms' tumour
References
- ^ a b c d e OMIM (1966-2009). Mulibrey nanism. NCBI (Johns Hopkins University). Retrieved May 7, 2009 from, https://www.ncbi.nlm.nih.gov/omim/?term=253250
- ^ a b Reference, Genetics Home. "TRIM37 gene". Genetics Home Reference. Retrieved 2017-01-09.
- ^ a b "Mulibrey nanism - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 9 January 2017.
- ^ ISBN 9780190275426. Retrieved 9 January 2017.
- ^ "TRIM37 tripartite motif-containing 37". NCBI Entrez Gene. Retrieved 2009-05-07.
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: MULIBREY nanism". www.orpha.net. Retrieved 2017-01-08.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ a b c "Mulibrey Nanism | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2017-01-08. Retrieved 2017-01-07.
- PMID 14757854.
- ^ Online Mendelian Inheritance in Man (OMIM): 605073
- ISBN 9780781730631. Retrieved 9 January 2017.
Further reading
- Traboulsi, Elias I., ed. (2011). Genetic Diseases of the Eye (2nd ed.). Oxford: Oxford University Press, USA. ISBN 9780199716975. Retrieved 9 January 2017.
- al.], Christopher J.H. Kelnar ... [et; Savage, Martin; Saenger, Paul; Cowell, Chris (2007). Growth disorders (2nd ed.). London: Hodder Arnold. ISBN 9780340812402.
External links
Scholia has a topic profile for Mulibrey nanism.
