MNX1, motor neuron and pancreas homeobox 1, 3110

N. diseases: 113; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE We investigated the spectrum of MNX1 pathogenic variants and associated clinical features in the Korean patients with CS. 29401559 2018
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE Mutations in the MNX1 gene are the main genetic background of CS, although they are not present in almost half of the cases. 28689883 2017
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE Mutations within the MNX1 gene were found to be causative in CS but no MNX1 mutation could be detected in our patient. 27549440 2017
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 Biomarker disease BEFREE We performed mutational analysis of MNX1 in all cases by DNA sequencing as well as by Multiplex Ligation-dependent Probe Amplification (MLPA) in those CS cases where no MNX1 mutations were found, to exclude a MNX1 heterozygous loss. 24095820 2013
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 Biomarker disease GENOMICS_ENGLAND Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family. 23562494 2013
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GermlineCausalMutation disease ORPHANET We describe a Norwegian family with typical CS in which a heterozygous deletion removes the entire MNX1 gene but no other known genes. 23370340 2013
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE We describe a Norwegian family with typical CS in which a heterozygous deletion removes the entire MNX1 gene but no other known genes. 23370340 2013
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE We present variable clinical and imaging features of CS in three siblings with genetically identified HLXB9 mutation. 23466002 2013
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE The disease-causing gene, Motor neuron and pancreas homeobox-1 (MNX1), is known to be mutated in almost all familial cases, but due to the lack of genotype-phenotype correlation, there is a need for better clinical and molecular genetic characterization of the CS. 22820079 2012
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease UNIPROT The disease-causing gene, Motor neuron and pancreas homeobox-1 (MNX1), is known to be mutated in almost all familial cases, but due to the lack of genotype-phenotype correlation, there is a need for better clinical and molecular genetic characterization of the CS. 22820079 2012
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GermlineCausalMutation disease ORPHANET The disease-causing gene, Motor neuron and pancreas homeobox-1 (MNX1), is known to be mutated in almost all familial cases, but due to the lack of genotype-phenotype correlation, there is a need for better clinical and molecular genetic characterization of the CS. 22820079 2012
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE We describe here the case of a 26-year-old married woman with Currarino syndrome who presented with a presacral teratoma and a previously unreported insertion in MNX1 gene. 22212327 2011
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. 21915987 2011
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE We performed mutation analysis of the motor neuron and pancreas homeobox 1 gene in 4 cases with CS by DNA sequence analysis as well as multiplex ligation-dependent probe amplification. 21763840 2011
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease UNIPROT MNX1 mutations were identified by direct sequencing the coding regions, intron/exon boundaries of MNX1 in 5 CS Japanese family members and 3 Chinese sporadic cases and their parents. 19853743 2009
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE MNX1 mutations were identified by direct sequencing the coding regions, intron/exon boundaries of MNX1 in 5 CS Japanese family members and 3 Chinese sporadic cases and their parents. 19853743 2009
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. 18449898 2008
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE The HLXB9 gene mutation could take place in sporadic cases of CS without a typical hemisacrum. 17560192 2007
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia. 17183586 2007
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE Mutations in the HLXB9 gene have been suggested to be the genetic background of CS. 17612791 2007
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 Biomarker disease GENOMICS_ENGLAND Currarino syndrome consists of autosomal dominant hereditary sacral dysgenesis that is caused by mutations of the HOX gene, HLXB9. 16906559 2006
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. 16254195 2006
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 Biomarker disease BEFREE We confirmed that the HLXB9 gene is not involved in the pathogenesis of CRS, and to date is known as a causative gene only for CS. 16498628 2006
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 GeneticVariation disease BEFREE Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. 15211664 2004
CUI: C1531773
Disease: Currarino triad
Currarino triad
0.800 Biomarker disease BEFREE FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome. 14663834 2003