KEGG   DISEASE: Mulibrey nanismHelp
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 [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01289  Mulibrey nanism
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
BRITE hierarchy
Pathway
hsa04120  Ubiquitin mediated proteolysis
Gene
TRIM37 [HSA:4591] [KO:K10608]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.1
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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