NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Disease: Malan overgrowth syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease BEFREE Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature. 31574590 2019
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease BEFREE Malan syndrome due to shared NFIX variants was diagnosed in the brothers using exome sequencing. 31369202 2019
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease BEFREE Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and macrocephaly. 29184170 2018
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease BEFREE We report a 3-year- 6 months- old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene. 30548146 2018
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease BEFREE Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. 29897170 2018
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GermlineCausalMutation disease ORPHANET We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. 25118028 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 Biomarker disease BEFREE We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. 26193383 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease BEFREE We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. 25118028 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. 25118028 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease BEFREE We identified three female patients with 19p13.2 deletions involving NFIX, a gene responsible for Malan syndrome. 25736188 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease UNIPROT Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. 26200704 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease CLINVAR We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. 25118028 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease UNIPROT We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. 26193383 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease BEFREE Recently, heterozygous mutations in the NFIX gene (Nuclear Factor I, X type) on chromosome 19p13.3 were identified in a few children with the Sotos syndrome phenotype: Sotos syndrome 2. 25345081 2014
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 CausalMutation disease CLINVAR DIAMUND: direct comparison of genomes to detect mutations. 24375697 2014
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GermlineCausalMutation disease ORPHANET Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. 22301465 2012
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease UNIPROT Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. 22301465 2012
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease CLINVAR Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GermlineCausalMutation disease ORPHANET Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease UNIPROT Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND