TRIM32, tripartite motif containing 32, 22954

N. diseases: 113; N. variants: 7
Disease: Limb-girdle muscular dystrophy type 2H ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (<1%). 30919934 2019
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease GENOMICS_ENGLAND Altered myogenesis and premature senescence underlie human TRIM32-related myopathy. 30823891 2019
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease BEFREE Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. 25351777 2015
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE Recessive mutations in C-terminal domains of TRIM32 result in limb-girdle muscular dystrophy 2H and sarcotubular myopathy, a rare congenital myopathy commonly seen in Hutterites. 23142638 2013
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease MGD Thus, one potential mechanism of LGMD2H might be destabilization of mutated TRIM32 protein leading to a null phenotype. 21775502 2011
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE Mutations in the tripartite motif-containing protein 32 gene (TRIM32; also known as E3 ubiquitin-protein ligase) have been reported to be responsible for limb-girdle muscular dystrophy type 2H in humans, and its encoded protein has been shown to interact with several other important proteins. 21984809 2011
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 CausalMutation disease CLINVAR Thus, one potential mechanism of LGMD2H might be destabilization of mutated TRIM32 protein leading to a null phenotype. 21775502 2011
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE LGMD2H was mapped to a specific mutation in the TRIM32 gene and it has subsequently been shown that the same mutation also results in the "sarcotubular myopathy" syndrome, which was described histopathologically. 21496629 2011
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease MGD To date four TRIM32 mutations have been linked to LGMD2H, all of which occur in the C-terminal NHL domains. 19155210 2009
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE Importantly, the LGMD2H/STM-associated TRIM32 mutations, D487N and R394H impair ubiquitin ligase activity towards dysbindin and were mislocalized in heterologous cells. 19349376 2009
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. 19303295 2009
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. 19492423 2009
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 17994549 2008
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease UNIPROT Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 17994549 2008
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease BEFREE The LGMD2H-associated missense point mutation prevented Trim32 binding to Piasy, and human Piasy failed to colocalize with human Trim32 in fibroblasts isolated from an LGMD2H patient. 16816390 2006
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 16606853 2006
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 16606853 2006
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 CausalMutation disease CLINVAR Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. 15786463 2005
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE The TRIM32 mutation found in the STM patients is identical to the causative mutation for LGMD2H (D487N), Haplotype analysis shows that the disease chromosomes share common ancestry. 15786463 2005
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE Interestingly, missense point mutation of human TRIM32 has been reported in Limb-Girdle Muscular Dystrophy Type 2H, an autosomal recessive disease. 14578165 2004
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease BEFREE On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H. 11822024 2002
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease GENOMICS_ENGLAND On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H. 11822024 2002
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 GeneticVariation disease UNIPROT On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H. 11822024 2002
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 CausalMutation disease CLINVAR On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H. 11822024 2002
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker disease CTD_human