Mulibrey nanism is a rare congenital disorder inherited in an autosomal recessive pattern. Its name is an acronym for muscle, liver, brain and eye nanism, and it points to the parts of the body involved: it causes severe growth failure together with abnormalities of the heart, muscle, liver, brain and eye. The gene TRIM37 is responsible for a range of cellular functions, including developmental patterning. This entry records only what the lead of the source states, and the course of the disease, its frequency and its management are left for a later, deeper pass.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band Sources
1. National Library of Medicine MeSH: MeSH descriptor Mulibrey Nanism
National Library of Medicine MeSHMeSH tree numberQuote, MeSH tree number
<http://id.nlm.nih.gov/mesh/D050336> <http://id.nlm.nih.gov/mesh/vocab#treeNumber> <http://id.nlm.nih.gov/mesh/C05.116.099.343.796> .
2. Mulibrey nanism (Wikipedia)
Lead section
is a rare autosomal recessive congenital disorder
Lead
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism") is a rare autosomal recessive congenital disorder.
View the Source3. National Cancer Institute (NCI Thesaurus): Mulibrey nanism - NCI Thesaurus concept C84906
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene.
4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:2576Quote, ORPHA:2576
Annual incidence Value and class 1-9 / 100 000
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