KTWS, Klippel-Trenaunay-Weber syndrome, 791122

N. diseases: 26; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 Biomarker disease BEFREE Germline intronic mutations leading to the loss of the +KTS isoforms have been observed in all patients with Frasier syndrome. 16927106 2006
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 Biomarker disease BEFREE Three types of WT1 messages (total, exon 5(+) and KTS(+)) and WT1 immunostaining of these diseases were analyzed. 17803653 2007
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.010 AlteredExpression disease BEFREE Wilms tumor 1 expression in malignant gliomas and correlation of +KTS isoforms with p53 status. 17886559 2007
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE We detected an unusual shift of WT1 isoforms towards WT1(+17AA/+KTS) in melanoma. 17912546 2008
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 GeneticVariation disease BEFREE Here we show that a decrease in WT1 + KTS isoforms due to disruption of alternative splicing of the WT1 gene in a FS patient is associated with diminished expression of the transcription factors SRY and SOX9 in Sertoli cells. 18271004 2008
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		0.020 GeneticVariation disease BEFREE A defining characteristic of DSRCT is a specific chromosomal translocation, t(11;22)(p13;q12), that fuses EWS with WT1, leading to a production of two isoforms of chimeric transcription factor, EWS/WT1(-KTS) and EWS/WT1(+KTS). 18523561 2008
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		0.030 GeneticVariation disease BEFREE Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma due to Wilms tumor 1(WT1) mutation in the donor splice site of intron-9, resulting in the splice form +KTS. 19653292 2009
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 GeneticVariation disease BEFREE (1) KTS mutations cause isolated NS with absence of WT in 46,XX females. 20595692 2010
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 GeneticVariation disease BEFREE (2) KTS mutations cause Frasier syndrome with gonadoblastoma risk in 46,XY phenotypic females. 20595692 2010
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 GeneticVariation disease BEFREE (1) KTS mutations cause isolated NS with absence of WT in 46,XX females. 20595692 2010
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		0.030 GeneticVariation disease BEFREE (2) KTS mutations cause Frasier syndrome with gonadoblastoma risk in 46,XY phenotypic females. 20595692 2010
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.020 GeneticVariation group BEFREE (3) KTS mutations cause NS with a slower progression when compared with missense mutations. 20595692 2010
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.020 GeneticVariation disease BEFREE Patients with KTS mutations presented at a significantly older age and with a slower progression toward chronic kidney disease (CKD) stage 5, compared with missense mutations. 20595692 2010
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 GeneticVariation group BEFREE Patients with KTS mutations presented at a significantly older age and with a slower progression toward chronic kidney disease (CKD) stage 5, compared with missense mutations. 20595692 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Alternative splicing at two sites yields four major isoforms, 17AA(+)KTS(+), 17AA(+)KTS(-), 17AA(-)KTS(+), and 17AA(-)KTS(-), and all the isoforms are expressed in the malignancies. 25418835 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE WT1 has several alternative splicing products, one of which, the KTS(+) variant, has been demonstrated to be involved in the transcriptional activation of a variety of oncogenes as well as the inhibition of tumor suppressor genes. 25434383 2014
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.020 GeneticVariation group BEFREE Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. 27300205 2017
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.020 GeneticVariation disease BEFREE Progression to end-stage renal disease (ESRD) was noted in all patients with missense mutations (median age, 2.6 months; interquartile range [IQR], 0.8 months to 1.7 years) and in 5 patients with KTS splicing mutations (median, 9.3 years; IQR, 3.3-16.5 years). 27300205 2017
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 GeneticVariation disease BEFREE Progression to end-stage renal disease (ESRD) was noted in all patients with missense mutations (median age, 2.6 months; interquartile range [IQR], 0.8 months to 1.7 years) and in 5 patients with KTS splicing mutations (median, 9.3 years; IQR, 3.3-16.5 years). 27300205 2017
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 GeneticVariation disease BEFREE Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. 27300205 2017
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 GeneticVariation disease BEFREE Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. 27300205 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 Biomarker disease BEFREE Distinct global binding patterns of the Wilms tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells. 27612989 2017
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 Biomarker disease BEFREE Distinct global binding patterns of the Wilms tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells. 27612989 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 AlteredExpression disease BEFREE Our study provides evidence that WT1 -KTS and WT1 +KTS share target genes yet still bind distinct locations, indicating isoform-specific regulation in transcription of genes related to cell proliferation and differentiation, consistent with the involvement of WT1 in acute myeloid leukemia. 27612989 2017
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.010 Biomarker disease BEFREE Total N<sub>2</sub>O emissions were reduced significantly by all KTS treatments as a function of KTS rate. 29128773 2018