WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: Cranioectodermal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease BEFREE Mutations of WDR35 may cause genetic diseases including Sensenbrenner syndrome. 30570184 2019
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease BEFREE We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. 29174089 2018
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease BEFREE Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. 29134781 2018
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease BEFREE Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779 2017
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease BEFREE We have identified a novel homozygous missense mutation in WDR35 (c.206G > A), a gene previously associated with Sensenbrenner Syndrome, Ellis-van Creveld syndrome and Short-rib polydactyly syndrome type V. The genetic findings in this family led to the re-evaluation of the initial diagnosis and a differential diagnosis of Sensenbrenner Syndrome was made after cautious re-examination of the patient. 28870638 2017
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease BEFREE WDR35, an intraflagellar transport protein previously associated with cranioectodermal dysplasia, the more severe short rib polydactyly syndrome type V and recently Ellis van Creveld syndrome, is present within a region of homozygosity and sequencing of all coding exons identified a novel homozygous nonsynonymous variant, p.Trp1153Cys. 26691894 2016
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204 2015
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease BEFREE We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome. 24123776 2013
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 GeneticVariation disease CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404 2013
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 Biomarker disease BEFREE This family represents a WDR35-ciliopathy with a complex clinical presentation that includes significant overlap of the phenotypes described in Sensenbrenner syndrome and the unclassified SRPs. 22987818 2012
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 Biomarker disease BEFREE WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder. 20817137 2010
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 CausalMutation disease CLINVAR