WNT10A, Wnt family member 10A, 80326

N. diseases: 136; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease BEFREE This report implies the significance of WNT10A gene mutation in ectodermal dysplasia and highlights the clinical features of SSPS. 29271000 2018
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease BEFREE In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia and Schöpf-Schulz-Passarge syndrome (SSPS). 28105635 2017
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 CausalMutation disease CLINVAR Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. 25629078 2015
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 CausalMutation disease CLINVAR Variability in dentofacial phenotypes in four families with WNT10A mutations. 24398796 2014
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease BEFREE This study reveals the range of ectodermal pathology in cases of SSPS that result from WNT10A mutations. 24902757 2014
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 CausalMutation disease CLINVAR Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review. 24702986 2014
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 CausalMutation disease CLINVAR Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome. 24902757 2014
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease BEFREE We conclude that OODD and SSPS should be considered as variable expressions of the same WNT10A genotype. 24398796 2014
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease BEFREE Although WNT10A gene mutations are known to cause rare syndromes associated with tooth agenesis, including onycho-odontodermal dysplasia (OODD), Schöpf-Schulz-Passarge syndrome (SSPS), hypohidrotic ectodermal dysplasia (HED), and more than half of the cases of isolated oligodontia recently, the genotype-phenotype correlations and the mode of inheritance of WNT10A mutations remain unclear. 24312213 2013
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 CausalMutation disease CLINVAR Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. 23167694 2013
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease UNIPROT Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 21143469 2011
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease BEFREE Schöpf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. 21834823 2011
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease BEFREE In this study, we show that (1) WNT10A mutations cause not only OODD but also other forms of ectodermal dysplasia, reaching from apparently monosymptomatic severe oligodontia to Schöpf-Schulz-Passarge syndrome, which is so far considered a unique entity by the findings of numerous cysts along eyelid margins and the increased risk of benign and malignant skin tumors; (2) WNT10A mutations are a frequent cause of ectodermal dysplasia and were found in about 9% of an unselected patient cohort; (3) about half of the heterozygotes (53.8%) show a phenotype manifestation, including mainly tooth and nail anomalies, which was not reported before in OODD; and (4) heterozygotes show a sex-biased manifestation pattern, with a significantly higher proportion of tooth anomalies in males than in females, which may implicate gender-specific differences of WNT10A expression. 19559398 2009
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GermlineCausalMutation disease ORPHANET WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 19559398 2009
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease UNIPROT WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 19559398 2009
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 CausalMutation disease CLINVAR WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 19559398 2009
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 Biomarker disease CTD_human
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 		0.770 GeneticVariation disease CLINVAR
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GeneticVariation disease BEFREE Our findings confirmed that bi-allelic mutations of WNT10A were responsible for OODD and greatly expanded the mutation spectrum of OODD. 30569517 2019
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. 28981473 2017
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GeneticVariation disease UNIPROT WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. 28589954 2017
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies. 25545742 2015
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. 25629078 2015
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GeneticVariation disease UNIPROT Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. 24458874 2014