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
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 GeneticVariation disease BEFREE A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome. 30821020 2019
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 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
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 GeneticVariation disease BEFREE Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in <i>SLC29A3</i>, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. 29079714 2017
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 Biomarker disease BEFREE Genetic defects in SLC29A3 should be considered in patients with autoinflammatory manifestations, recurrent febrile attacks, and 1 or more of the symptoms found in the broad spectrum of SLC29A3-related disorders (especially hyperpigmentation with hypertrichosis). 23530176 2013
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 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
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 Biomarker disease CTD_human Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. 20140240 2010
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 GeneticVariation disease BEFREE Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. 20140240 2010
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 Biomarker disease CTD_human SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. 19336477 2009
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.460 Biomarker disease HPO