TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Ichthyoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE Self-improving collodion ichthyosis occurred in 8% of the cases (mostly TGM1 and ALOX12B mutations) but could not be predicted precisely from neonatal phenotype or genotype. 31168818 2020
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population. 31073126 2019
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE We attributed TGM1 and ABCA12 mutations to the most severe forms of lamellar and erythematous ichthyoses, respectively, regardless of treatment. 30600594 2019
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 AlteredExpression disease BEFREE Increased awareness of temperature-sensitive TGM1 genotypes should aid in genetic counseling and provide insights into the pathophysiology of TGM1 ichthyoses, transglutaminase-1 enzymatic activity, and potential therapeutic approaches. 28403434 2017
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE The expression of those antimicrobial and defense response genes was also increased in the lesional skin of an ARCI patient with TGM1 mutations. 27442430 2016
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE Combined with data from the literature, these findings confirm the hypothesis that only a restricted spectrum of TGM1 mutations leads to a BSI and/or an SICI phenotype. 22801880 2012
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE The TGM1 mutation spectrum was characterised and genotype-phenotype correlations investigated in 104 patients with ARCI ascertained through the National Registry for Ichthyosis and Related Disorders in the USA. 18948357 2009
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease LHGDN The TGM1 mutation spectrum was characterised and genotype-phenotype correlations investigated in 104 patients with ARCI ascertained through the National Registry for Ichthyosis and Related Disorders in the USA. 18948357 2009
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 Biomarker disease BEFREE Linkage analysis excluded (logarithmic odds [LOD] score -2.0) TGM1 as the cause for ichthyosis phenotype in the analyzed Chianina cases. 18165261 2008
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease LHGDN These studies extend our prior work on TGM1-deficient LI to the full spectrum of TGM1-deficient patients, showing that the CIE phenotype, when attributable to a V518M heterozygous mutation in TGM1 in combination with an inactive allele, confers a cross-linking deficiency in a variety of keratinizing epithelia, as previously shown for TGM1-negative LI. 16133457 2005
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease LHGDN Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. 15665393 2004
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. 10914678 2000
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE Clinically typical phenotype of the TGM1 mutation carrier includes large, thick, brownish scales, but ichthyosis of some of these patients tends to be milder. 10482949 1999
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE Recent work has shown that a number of diseases which display defective epidermal barrier function, generically known as ichthyoses, are the result of genetic defects of the synthesis of either CE proteins, the transglutaminase 1 cross-linking enzyme, or defective metabolism of skin lipids. 10231017 1999
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 GeneticVariation disease BEFREE The identification of mutations in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in other congenital recessive ichthyoses. 8941665 1996
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 Biomarker disease HPO
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.200 CausalMutation disease CLINVAR