H01289 | |
H number | H01289 |
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 |
Network | - |
Gene | TRIM37 [HSA:4591] [KO:K10608] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.1 MeSH: D050336 OMIM: 253250 |
Reference | PMID:15108285 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 |