ANTXR2, ANTXR cell adhesion molecule 2, 118429

N. diseases: 143; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. 31455396 2019
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report. 30152846 2018
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. 28914269 2018
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE This information provides insights on genotype-phenotype correlations, identifies a previously unreported mutation in ANTXR2, and improves the understanding of a recurrent mutation in HFS. 29801470 2018
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE A mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted. 28103792 2017
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 Biomarker disease BEFREE CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. 28604699 2017
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Here, the authors present a case of systemic hyalinosis with a heterozygous mutation in CMG2 that resulted in improved survival. 26885603 2016
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene. 25754064 2015
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2, a gene involved in extracellular matrix homeostasis. 23554269 2013
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease CLINVAR Infantile systemic hyalinosis: a case report with a novel mutation. 23386947 2013
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. 22383261 2012
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Finally, we will describe HFS and the consequences of HFS-associated mutations in CMG2 at the molecular and cellular level. 22215446 2012
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Mutations in the ANTXR2 gene can also cause juvenile hyaline fibromatosis (JHF). 22300424 2012
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1G→T on exon 14 in anthrax toxin receptor 2 gene. 22042284 2011
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 Biomarker disease BEFREE Finally, we show that mutant CMG2 can be rescued in fibroblasts of some patients by treatment with proteasome inhibitors and that CMG2 is then properly transported to the plasma membrane and signalling competent, identifying the ER folding and degradation pathway components as promising drug targets for HFS. 21328543 2011
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Systemic hyalinosis is an autosomal recessive disease that encompasses two allelic syndromes, infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), which are caused by mutations in the CMG2 gene. 19191226 2009
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. 17284973 2007
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease UNIPROT Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF). 15725249 2005
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 Biomarker disease BEFREE Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF). 15725249 2005
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 Biomarker disease BEFREE Recently, the causative gene for JHF, capillary morphogenesis protein 2 (CMG2) was identified. 16104968 2005
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 Biomarker disease CTD_human Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix. 12973667 2003
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease UNIPROT We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH. 14508707 2003
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.800 GeneticVariation disease BEFREE Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix. 12973667 2003