KEGG   DISEASE: Mulibrey nanism
Entry
H01289                      Disease                                
Name
Mulibrey nanism
Description
Mulibrey nanism is an autosomal recessive growth disorder characterized by prenatal-onset growth failure and heart disease involving constrictive pericarditis and restrictive cardiomyopathy. Mutations in the TRIM37 gene have been reported in Mulibrey nanism patients.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01289  Mulibrey nanism
Pathway
hsa04120  Ubiquitin mediated proteolysis
Gene
TRIM37 [HSA:4591] [KO:K10608]
Other DBs
ICD-11: LD2F.1Y
MeSH: D050336
OMIM: 253250
Reference
  Authors
Hamalainen RH, Avela K, Lambert JA, Kallijarvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE
  Title
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
  Journal
Hum Mutat 23:522 (2004)
DOI:10.1002/humu.9233
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