ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia
0.330 GeneticVariation disease BEFREE Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2. 29681084 2018
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia
0.330 Biomarker 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
0.330 GeneticVariation disease BEFREE We report a family with vertical transmission from mother to son of mild frontonasal dysplasia phenotype caused by a novel ALX4 gene mutation (c.1080-1089_delGACCCGGTGCinsCTAAGATCTCAACAGAGATGGCAACT, p.Asp326fsX21).This is the first report of a frontonasal phenotype related to a heterozygous mutation in ALX4. 23401352 2013
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia
0.330 Biomarker disease CTD_human