EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Disease: Craniofrontonasal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GermlineCausalMutation disease ORPHANET Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS. 15959873 2005
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GermlineCausalMutation disease ORPHANET We conclude that mutations in EFNB1 cause CFNS. 15124102 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GermlineCausalMutation disease ORPHANET Although EFNB1 is X-inactivated, we did not observe markedly skewed X-inactivation in either blood or cranial periosteum from females with CFNS, indicating that lack of ephrin-B1 does not compromise cell viability in these tissues. 15166289 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 CausalMutation disease CLINVAR
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 AlteredExpression disease BEFREE Hence, we propose that X-linked cases resembling Teebi hypertelorism may have a similar mechanism to CFNS, and that cellular mosaicism for different levels of ephrin-B1 (as well as simple presence/absence) leads to craniofacial abnormalities. 21542058 2011
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 AlteredExpression disease BEFREE Here, by generating hiPSCs from CFNS patients, we demonstrate that mosaicism for EPHRIN-B1 expression induced by random X inactivation in heterozygous females results in robust cell segregation in human neuroepithelial cells, thus supplying experimental evidence that Eph/ephrin-mediated cell segregation is relevant to pathogenesis in human CFNS patients. 28238796 2017
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND We conclude that mutations in EFNB1 cause CFNS. 15124102 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease BEFREE Mutations in the ephrin A4 (EFNA4) and ephrin B1 (EFNB1) ligands have been linked to nonsyndromic CS and craniofrontonasal syndrome, respectively, in patient samples. 28135115 2018
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease BEFREE Because the encoded protein ephrin-B1 is involved in migration of neural crest cells we propose that CFNS is a novel type of neurocrestopathy. 16143553 2006
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease CTD_human We conclude that mutations in EFNB1 cause CFNS. 15124102 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease BEFREE Craniofrontonasal syndrome (CFNS [MIM 304110]) is an X-linked malformation syndrome characterized by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females. 17941886 2007
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND We conclude that mutations in EFNB1 cause CFNS. 15124102 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease BEFREE Upon clonal expansion of patient cells with either the wild-type or mutant EFNB1 on the active X-chromosome, we were able to separate mutant and wild-type EFNB1-expressing cells in vitro, further supporting the concept of cellular interference in CFNS. 18043713 2008
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease CTD_human Although EFNB1 is X-inactivated, we did not observe markedly skewed X-inactivation in either blood or cranial periosteum from females with CFNS, indicating that lack of ephrin-B1 does not compromise cell viability in these tissues. 15166289 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 Biomarker disease MGD Mutations in X-linked ephrin-B1 in humans cause craniofrontonasal syndrome (CFNS), a disease that affects female patients more severely than males. 16968134 2006
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. 24281372 2014
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. 23335590 2013
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE We conclude that mutations in EFNB1 cause CFNS. 15124102 2004
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 20734337 2010
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease CLINVAR
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE CFNS is caused by mutations in the Ephrin 1 gene (EFNB1) located at Xq13.1, which encodes the transmembrane protein Ephrin B1. 31285555 2019
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. 16639408 2006
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease BEFREE Here, we report a CFNS patient with a novel EFNB1 missense mutation present at the interface between EFNB1 and its receptor proteins. 17300690 2007
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation disease UNIPROT Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS. 15959873 2005