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: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 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: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome. 24902757 2014
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GermlineCausalMutation disease ORPHANET Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. 24458874 2014
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GeneticVariation disease BEFREE We conclude that OODD and SSPS should be considered as variable expressions of the same WNT10A genotype. 24398796 2014
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR Variability in dentofacial phenotypes in four families with WNT10A mutations. 24398796 2014
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR Late diagnosis of ectodermal dysplasia syndrome. 22670871 2013
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 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: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 21143469 2011
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233 2011
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR Phenotypic variability associated with WNT10A nonsense mutations. 20163410 2010
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. 19471313 2009
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 CausalMutation disease CLINVAR 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: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 AlteredExpression 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: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GeneticVariation disease UNIPROT WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. 19471313 2009
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GeneticVariation disease UNIPROT 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: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GeneticVariation disease CLINVAR 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: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GeneticVariation disease UNIPROT Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. 17847007 2007
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 GermlineCausalMutation disease ORPHANET Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. 17847007 2007
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 Biomarker disease CTD_human
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1835492
Disease: TOOTH AGENESIS, SELECTIVE, 4 (disorder)
TOOTH AGENESIS, SELECTIVE, 4 (disorder) 		0.610 GeneticVariation disease BEFREE With the notable exception of WNT10A (Tooth agenesis, selective, 4, MIM #150400), the genotype-phenotype relationships described in the present cohort represent an expansion of the clinical spectrum associated with these genes: TSPEAR (Deafness, autosomal recessive 98, MIM #614861), LAMB3 (Amelogenesis imperfecta, type IA, MIM #104530; Epidermolysis bullosa, junctional, MIMs #226700 and #226650), and BCOR (Microphthalmia, syndromic 2, MIM #300166). 30046887 2018
CUI: C1835492
Disease: TOOTH AGENESIS, SELECTIVE, 4 (disorder)
TOOTH AGENESIS, SELECTIVE, 4 (disorder) 		0.610 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: C1835492
Disease: TOOTH AGENESIS, SELECTIVE, 4 (disorder)
TOOTH AGENESIS, SELECTIVE, 4 (disorder) 		0.610 GeneticVariation disease UNIPROT Role of WNT10A in failure of tooth development in humans and zebrafish. 29178643 2017
CUI: C1835492
Disease: TOOTH AGENESIS, SELECTIVE, 4 (disorder)
TOOTH AGENESIS, SELECTIVE, 4 (disorder) 		0.610 GeneticVariation disease UNIPROT Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. 27657131 2016
CUI: C1835492
Disease: TOOTH AGENESIS, SELECTIVE, 4 (disorder)
TOOTH AGENESIS, SELECTIVE, 4 (disorder) 		0.610 CausalMutation disease CLINVAR WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies. 25545742 2015