KDSR, 3-ketodihydrosphingosine reductase, 2531

N. diseases: 52; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 GeneticVariation disease BEFREE The proximity of FVT-1 to the BCL-2 locus suggests that in the t(14;18) currently observed in follicular lymphomas, both genes would participate in the tumoral process. 8417785 1993
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.310 GeneticVariation disease BEFREE KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for <i>de novo</i> sphingolipid synthesis, and pathogenic mutations in <i>KDSR</i> result in the severe skin disorder <i>erythrokeratodermia variabilis et progressiva-4</i> Four of the eight reported cases also had thrombocytopenia but the underlying mechanism has remained unexplored. 30467204 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 GeneticVariation phenotype BEFREE Here we expand upon the phenotypic spectrum of KDSR deficiency with studies in two siblings with novel compound heterozygous variants associated with thrombocytopenia, anemia, and minimal skin involvement. 30467204 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 GeneticVariation phenotype BEFREE Mutations in KDSR have recently been reported in inherited recessive forms of progressive symmetric erythrokeratoderma, but our study shows that biallelic mutations in KDSR are implicated in an extended spectrum of disorders of keratinization in which thrombocytopenia is also part of the phenotype. 28774589 2017
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.020 Biomarker group BEFREE These and other data suggest that genes at 18q21.3, other than BCL2 and FVT1, may be targets for translocation in certain subgroups of B-NHL. 7949096 1994
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma 		0.020 GeneticVariation disease BEFREE Here, we show that mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetric erythrokeratoderma spectrum. 28575652 2017
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma 		0.020 GeneticVariation disease BEFREE Mutations in KDSR have recently been reported in inherited recessive forms of progressive symmetric erythrokeratoderma, but our study shows that biallelic mutations in KDSR are implicated in an extended spectrum of disorders of keratinization in which thrombocytopenia is also part of the phenotype. 28774589 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE The FVT-1 gene is weakly expressed in all the analyzed normal hematopoietic tissues but a very high rate of transcription is observed in some T-cell malignancies and in phytohemagglutinin-stimulated lymphocytes. 8417785 1993
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 Biomarker disease BEFREE We investigated the expression of FVT1 in a variety of B-cell non-Hodgkin lymphomas and found that FVT1 is significantly underexpressed by germinal center-type diffuse large B-cell lymphoma (DLBCL) when compared with non-germinal center-type DLBCL, follicular lymphoma, and normal tonsil control samples. 19019774 2008
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.010 GeneticVariation group BEFREE KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for <i>de novo</i> sphingolipid synthesis, and pathogenic mutations in <i>KDSR</i> result in the severe skin disorder <i>erythrokeratodermia variabilis et progressiva-4</i> Four of the eight reported cases also had thrombocytopenia but the underlying mechanism has remained unexplored. 30467204 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 AlteredExpression disease BEFREE Increased expression of FVT1 correlated with decreased survival, suggesting that changes in the expression of FVT1 and in the concentrations of bioactive sphingolipids may be important in the pathogenesis and treatment of some types of DLBCL. 19019774 2008
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE Bioinformatics analysis identified 10 genes significantly coregulated with SPTLC1 in ccRCC, most of which contributed to sphingomyelin metabolism (SPTLC2, SPTLC3, SPTSSA, SPTSSB, ORMDL1, ORMDL2, ORMDL3, ZDHHC9, GOLGA7B, and KDSR). 31512789 2020
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.010 AlteredExpression disease BEFREE Expression of the follicular lymphoma variant translocation 1 gene in diffuse large B-cell lymphoma correlates with subtype and clinical outcome. 19019774 2008
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 GeneticVariation disease BEFREE 3-ketodihydrosphingosine reductase mutation induces steatosis and hepatic injury in zebrafish. 30718751 2019
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.600 CausalMutation disease CLINVAR
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0079765
Disease: Lymphoma, Small Cleaved-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C1956130
Disease: Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 1 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C1956131
Disease: Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 3 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 AlteredExpression disease LHGDN We investigated the expression of FVT1 in a variety of B-cell non-Hodgkin lymphomas and found that FVT1 is significantly underexpressed by germinal center-type diffuse large B-cell lymphoma (DLBCL) when compared with non-germinal center-type DLBCL, follicular lymphoma, and normal tonsil control samples. 19019774 2008
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.020 AlteredExpression group LHGDN Expression of the follicular lymphoma variant translocation 1 gene in diffuse large B-cell lymphoma correlates with subtype and clinical outcome. 19019774 2008
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.010 GeneticVariation disease LHGDN A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. 17420465 2007