SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE A novel 3'UTR mutation in the SLC29A3 gene is associated with the PHID syndrome, highlighting a potentially new pathological mechanism for this disease. 30821020 2019
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE The identification of a novel homozygous frameshift mutation (c.307_308delTT, p.F103Ter) in SLC29A3 gene, together with the characteristic clinical manifestations of H syndrome, provided accurate diagnosis for this patient. 30723056 2019
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE This study not only extended the clinical and mutation spectrum of SLC29A3 in H syndrome, but also showed that short children should be assessed according to the guidelines for short stature in children. 30625464 2019
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Case presentation Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T>A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3 gene. 30517079 2019
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. 30101042 2018
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Hence, genetic analysis of the SLC29A3 gene was performed for four patients with a clinical diagnosis of H syndrome. 29808591 2018
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report. 27316388 2018
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome. 29079714 2017
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. 28554179 2017
Histiocytosis with joint contractures and sensorineural deafness
0.800 CausalMutation disease CLINVAR H syndrome: 5 new cases from the United States with novel features and responses to therapy. 29041934 2017
Histiocytosis with joint contractures and sensorineural deafness
0.800 CausalMutation disease CLINVAR Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome. 24894595 2015
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE The aim of this study was to identify pathogenic SLC29A3 mutations in a Chinese patient clinically diagnosed with H syndrome. 25963354 2015
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome. 24894595 2015
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE This is the first case of H syndrome with Raynaud's phenomenon and retroperitoneal fibrosis, and the first Japanese case of H syndrome reported in the English published work with a novel mutation in the SLC29A3 gene. 26074390 2015
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation. 23406517 2014
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. 22989030 2013
Histiocytosis with joint contractures and sensorineural deafness
0.800 Biomarker disease GENOMICS_ENGLAND An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. 22989030 2013
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE These clinical features overlapped with pigmented hypertrichosis with insulin-dependent diabetes (PHID), H syndrome, Faisalabad histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), all of which are also caused by SLC29A3 mutations. 23623699 2013
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin. 22653152 2012
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE H syndrome is caused by mutations in the gene SLC29A3, which encodes hENT3, a member of the human equilibrative nucleoside transporter family. 22356918 2012
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. 22238637 2012
Histiocytosis with joint contractures and sensorineural deafness
0.800 Biomarker disease BEFREE In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome. 21888995 2012
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease BEFREE Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome. 23058913 2012
Histiocytosis with joint contractures and sensorineural deafness
0.800 GeneticVariation disease UNIPROT In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome. 21888995 2012
Histiocytosis with joint contractures and sensorineural deafness
0.800 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. 22875837 2012