ALX3, ALX homeobox 3, 257

N. diseases: 91; N. variants: 7
Disease: Frontonasal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 GeneticVariation disease BEFREE Genome scan using 250k Nsp1 array followed by exome and Sanger sequence analysis revealed a novel homozygous nonsense variant (c.604C>T, p.Gln202*) in the ALX3 gene resulting in frontorhiny in the family. 29215096 2018
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease BEFREE Frontonasal dysplasia (FND) is a heterogeneous group of disorders characterized by hypertelorism, telecanthus, broad nasal root, wide prominent nasal bridge, short and wide nasal ridge, broad columella and smooth philtrum. 27324866 2017
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 GeneticVariation disease BEFREE Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. 24376213 2014
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease BEFREE Frontonasal Dysplasia (FND) and Oculo-auriculo-vertebral spectrum (OAVS) are two well-recognized clinical entities. 23637006 2013
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease GENOMICS_ENGLAND Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia. 19401770 2009
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease BEFREE We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny. 19409524 2009
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 GeneticVariation disease UNIPROT We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny. 19409524 2009
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease GENOMICS_ENGLAND We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny. 19409524 2009
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 GermlineCausalMutation disease ORPHANET We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny. 19409524 2009
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease GENOMICS_ENGLAND We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny. 19409524 2009
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease GENOMICS_ENGLAND Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs. 15127764 2004
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease BEFREE An inbred pedigree is described in which three members were affected with FND (Frontonasal Dysplasia). 7363499 1980
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 CausalMutation disease CLINVAR
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 GeneticVariation disease CLINVAR
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.760 Biomarker disease CTD_human