CCN6, cellular communication network factor 6, 8838

N. diseases: 126; N. variants: 21
Disease: Progressive pseudorheumatoid dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Mutant WISP3 triggers the phenotype shift of articular chondrocytes by promoting sensitivity to IGF-1 hypothesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA). 17363178 2007
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Our study aimed to characterize the clinical manifestations and features of PPD and screen the mutations of the disease causing WISP3, and try to elucidate the molecular pathogenesis of PPD. 19064006 2009
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE WISP3 gene mutations are associated with progressive pseudorheumatoid dysplasia (PPD, OMIM208230), an autosomal recessive genetic disease that is characterized by the swelling of multiple joints and disproportionate dwarfism. 22685593 2012
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease UNIPROT Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230). 10471507 1999
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease UNIPROT WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 27436824 2016
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Mutation analysis of the WISP3 gene is useful for confirming the clinical and radiographic diagnosis of PPD. 21993478 2012
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease UNIPROT Our study suggests that novel C223G and C252X mutations in exon 4 of the WISP3 gene are responsible for PPD in Chinese patients. 25794430 2015
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease CLINVAR Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. 12819927 2004
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Homozygous or compound heterozygous WISP3 mutations cause PPD. 26991965 2016
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE We hereby report the molecular study of the WISP3 gene in nine unrelated consanguineous families originating from the Middle-East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD. 16152649 2005
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India. 27291587 2016
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease CLINVAR Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230). 10471507 1999
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3. 22987568 2012
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE The tuberculin skin test (TST), the Quantiferon (QFT) and a prolonged lymphocyte stimulation test using either ESAT-6/CFP-10 (LST-EC) or PPD (LST-PPD) were evaluated in a cohort of 495 individuals, suspected to have LTBI, in a low endemic country. 28802407 2017
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. 29246200 2017
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease UNIPROT We hereby report the molecular study of the WISP3 gene in nine unrelated consanguineous families originating from the Middle-East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD. 16152649 2005
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. 30922245 2019
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease UNIPROT This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3. 22987568 2012
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. 22791401 2012
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations. 26183434 2015
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease UNIPROT WISP3 gene mutations are associated with progressive pseudorheumatoid dysplasia (PPD, OMIM208230), an autosomal recessive genetic disease that is characterized by the swelling of multiple joints and disproportionate dwarfism. 22685593 2012
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease UNIPROT Our study aimed to characterize the clinical manifestations and features of PPD and screen the mutations of the disease causing WISP3, and try to elucidate the molecular pathogenesis of PPD. 19064006 2009
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease CLINVAR This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3. 22987568 2012
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Wnt-1-inducible signaling pathway protein 3 (WISP-3)/CCN6 is mutated in progressive pseudorheumatoid dysplasia and may have effects on cartilage homeostasis. 22294415 2012
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation disease BEFREE Surprisingly, homozygous Wisp3 mutant mice appear normal and do not recapitulate any of the morphological, radiographic, or histological abnormalities seen in patients with PPD. 15601861 2005