MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.850 Biomarker disease BEFREE Our observations highlight the role of MSX2 in clavicular development and the importance of radiological examination of the clavicles in subjects with PFM. 14571277 2003
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.850 GeneticVariation disease BEFREE Heterozygous mutations in MSX2 are responsible for an autosomal dominant form of parietal foramina (PFM). 11017806 2000
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.850 GeneticVariation disease BEFREE This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function. 10767351 2000
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.850 GeneticVariation disease BEFREE Mutation analysis of the ALX4 gene in three unrelated FPP families without the MSX2 mutation identified mutations in two families, indicating that mutations in ALX4 could be responsible for these skull defects and suggesting further genetic heterogeneity of FPP. 11106354 2000
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.850 GeneticVariation disease BEFREE The combination of multiple exostoses (EXT) and enlarged parietal foramina (foramina parietalia permagna, FPP) represent the main features of the proximal 11p deletion syndrome (P11pDS), a contiguous gene syndrome (MIM 601224) caused by an interstitial deletion on the short arm of chromosome 11. 14872200 2004
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. 18786927 2008
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE A mutation in the homeotic gene MSX2 was the first genetic defect identified in an autosomal dominant primary craniosynostosis, i.e. in craniosynostosis type 2 (Boston type). 9342602 1997
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE MSX2 is a homeodomain transcription factor that has been implicated in craniofacial morphogenesis on the basis of its expression pattern during mouse development and the finding of a missense mutation (P148H) in humans affected with Boston-type craniosynostosis. 9147639 1997
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2. 23949913 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE Mutations in the human homeobox-containing gene, Msx2, have been shown to cause Boston type craniosynostosis, and we have shown that overexpression of Msx2 leads to craniosynostosis in mice. 12674336 2003
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 Biomarker disease BEFREE This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function. 10767351 2000
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE An extra copy of the MSX2 gene, which maps within the duplicated segment and is mutated in Boston-type craniosynostosis, was confirmed by molecular cytogenetic studies. 18000908 2007
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE Molecular analysis revealed a missense mutation in the MSX2-associated with the Boston-type craniosynostosis syndrome-affecting the same amino-acid residue as in the original Boston family. 23918290 2013
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 Biomarker disease BEFREE We found previously that a single amino acid substitution in the homeodomain of the human MSX2 gene is associated with the autosomal dominant disorder craniosynostosis, Boston type. 9917362 1999
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. 8968743 1996
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE By contrast,Saethre-Chotzen syndrome and craniosynostosis (Boston-type) arise from mutations in the Twist and muscle segment homeobox 2 (MSX2) transcription factors, respectively. 14987407 2003
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		0.800 GeneticVariation disease BEFREE It has previously been shown that a missense mutation of Msx2 (P148H) causes Boston-type craniosynostosis in humans. 11683913 2001
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		0.710 GeneticVariation disease BEFREE Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. 14571277 2003
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.600 GeneticVariation disease BEFREE Our results support the previous finding that distal 5q-trisomy together with an extra copy of the MSX2 gene leads to abnormal closure of sutures and craniosynostosis. 17955513 2007
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.600 Biomarker disease BEFREE Our study confirms that early fusion of cranial sutures commonly observed in the dup(5q) syndrome is caused by triplication of the MSX2 gene and strongly supports the crucial role of this gene in the development of craniofacial structures. 18000908 2007
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.600 GeneticVariation disease BEFREE The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway. 21082653 2010
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.600 GeneticVariation disease BEFREE These data confirm that missense mutations altering the proline at codon 148 of MSX2 cause dominantly inherited craniosynostosis. 23949913 2013
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.600 GeneticVariation disease BEFREE A mutation in the homeotic gene MSX2 was the first genetic defect identified in an autosomal dominant primary craniosynostosis, i.e. in craniosynostosis type 2 (Boston type). 9342602 1997
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.600 Biomarker disease BEFREE Molecular analysis of MSX2 should therefore be considered in patients with isolated scaphocephaly/unicoronal synostosis, especially in the presence of a family history for craniosynostosis or syndactyly. 23918290 2013
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.600 GeneticVariation disease BEFREE For example, the utilization of these strategies has resulted in the successful mapping of approximately 70 genes related to craniofacial anomalies (e.g., Pax, retinoic acid receptors, cadhedrins, aggrecan, cell adhesion molecules, substrate adhesion molecules, etc.), 30 genes related to dental tissue disorders (e.g., BMPs, bone morphogenetic proteins; dentin phosphoproteins, dentin sialoglycoproteins, enamelins, amelogenins), 20 genes related to facial clefting defects (e.g., Hox genes, transforming growth factor alpha), and 3 genes related to craniosynostosis (e.g., Msx-2). 7554921 1995