Disease #05342

Official abbreviation CAKUT
Name kidney and urinary tract, anomalies, congenital (CAKUT)
OMIM ID -
Inheritance -
Individuals reported having this disease 46
Phenotype entries for this disease 46
Associated with 4 genes CHRNA3, DSTYK, SLIT3, TBX18
Associated tissues -
Disease features -
Remarks -


Individuals

46 entries on 1 page. Showing entries 1 - 46.
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00132974 29100090-PatDC18 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - 0 - - CAKUT renal agenesis (right, vesicoureteral reflux, hydronephrosis, cysts, patent foramen ovale SLIT3 SLIT3 1 1 Johan den Dunnen
00132975 29100090-FamDC14 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier father F - - - - 0 - - CAKUT CAKUT, renal agenesis left WNT5A WNT5A 1 2 Johan den Dunnen
00132976 29100090-FamDC17 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier mother F - - - - 0 - - CAKUT CAKUT, renal agenesis left, vesicoureteral reflux, hydronephrosis; coarctation aortae, absent gallbladder, bifid uvula HSPA4L HSPA4L 1 2 Johan den Dunnen
00132977 29100090-FamDC19 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - 0 - - CAKUT CAKUT, renal agenesis left T T 1 1 Johan den Dunnen
00132978 29100090-FamDC20 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - 0 - - CAKUT CAKUT, renal agenesis right SETBP1 SETBP1 1 1 Johan den Dunnen
00132979 29100090-FamDC1 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier father M - - - - 0 - - CAKUT CAKUT, renal hypoplasia bilateral; branchio-oto-renal syndrome features EYA1 EYA1 1 2 Johan den Dunnen
00132980 29100090-FamDC2 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - 0 - - CAKUT CAKUT, renal hypoplasia left; synechiae vulvae GATA3 GATA3 1 1 Johan den Dunnen
00132981 29100090-FamDC3 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - 0 - - CAKUT CAKUT, renal agenesis left PAX2 PAX2 1 1 Johan den Dunnen
00132982 29100090-FamDC4 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier father F - - - - 0 - - CAKUT CAKUT, renal hypoplasia bilateral, cysts; bilateral nervus opticus coloboma, atrial septum defect, obesity PAX2 PAX2 1 2 Johan den Dunnen
00132983 29100090-FamDC5 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - 0 - - CAKUT CAKUT, renal hypoplasia bilateral, vesicoureteral reflux. hydronephrosis; hyperuricaemia UMOD UMOD 1 1 Johan den Dunnen
00132984 29100090-FamDC6 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - 0 - - CAKUT CAKUT, multicystic dysplastic kidney bilateral, vesicoureteral reflux; epispadia HNF1B HNF1B 1 1 Johan den Dunnen
00132985 29100090-FamDC7 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier mother M - - - - 0 - - CAKUT CAKUT, renal dysplasia left SIX5 SIX5 1 2 Johan den Dunnen
00132986 29100090-FamDC8 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - 0 - - CAKUT CAKUT, multicystic dysplastic kidney left, congenital megaureter GREB1L GREB1L 1 1 Johan den Dunnen
00132987 29100090-FamDC9 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - 0 - - CAKUT CAKUT, renal agenesis left; unicornate uterus, agenesis of left ovary GREB1L GREB1L 1 1 Johan den Dunnen
00132988 29100090-FamDC10 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - 0 - - CAKUT CAKUT, renal dysplasia left, duplication ureter GREB1L GREB1L 1 1 Johan den Dunnen
00132989 29100090-FamDC11 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - 0 - - CAKUT CAKUT, renal agenesis left GREB1L GREB1L 1 1 Paula Rozenfeld
00132990 29100090-FamDC12 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 affected mother F - - - - 0 - - CAKUT CAKUT, renal agenesis right GREB1L GREB1L 1 1 Paula Rozenfeld
00132991 29100090-FamDC13 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 affected sister (VUR), mother (uterus anomaly) M - - - - 0 - - CAKUT CAKUT, renal agenesis bilateral, bladder agenesis; Potter sequence GREB1L GREB1L 1 1 Paula Rozenfeld
00132992 29100090-FamDC14 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - 0 - - CAKUT CAKUT, renal agenesis left GREB1L GREB1L 1 1 Paula Rozenfeld
00132993 29100090-FamDC15 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - 0 - - CAKUT CAKUT, renal agenesis left GREB1L GREB1L 1 1 Paula Rozenfeld
00132994 29100090-FamDC16 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 affected sister (VUR), fatehr (?) F - - - - 0 - - CAKUT CAKUT, renal agenesis left GREB1L GREB1L 1 1 Paula Rozenfeld
00147062 29100091-Fam1 PubMed: de Tomasi 2017 2-generation family, 3 affecteds (F, 2M), unaffected carrier mother F;M - France - - 0 - - CAKUT 1 affected unilateral case, 2 deceased bilateral cases GREB1L GREB1L 1 3 Johan den Dunnen
00147063 29100091-Fam2 PubMed: de Tomasi 2017 2-generation family, 4 affecteds (3F, M) F;M - France - - 0 - - CAKUT 2 affected unilateral cases, 2 deceased bilateral cases GREB1L GREB1L 1 4 Johan den Dunnen
00147064 29100091-Fam3 PubMed: de Tomasi 2017 2-generation family, 4 affecteds (F, 3M) F;M - France - - 0 - - CAKUT 2 affected unilateral cases, 2 deceased bilateral cases GREB1L GREB1L 1 4 Johan den Dunnen
00147065 29100091-Fam4 PubMed: de Tomasi 2017 2-generation family, 2 affecteds (F, M), unaffected carrier mother F;M - France - - 0 - - CAKUT 2 deceased bilateral cases GREB1L GREB1L 1 2 Johan den Dunnen
00147066 29100091-Fam5 PubMed: de Tomasi 2017 2-generation family, 3 affecteds (2F, M) F;M - France - - 0 - - CAKUT 1 affected unilateral case, 2 deceased bilateral cases GREB1L GREB1L 1 3 Johan den Dunnen
00147067 29100091-Fam6 PubMed: de Tomasi 2017 2-generation family, 1 affected, unaffected carrier mother M - France - - 0 - - CAKUT 1 deceased bilateral case GREB1L GREB1L 1 1 Johan den Dunnen
00147068 29100091-Fam7 PubMed: de Tomasi 2017 2-generation family, 1 affected, unaffected carrier mother F - France - - 0 - - CAKUT 1 deceased bilateral case GREB1L GREB1L 1 1 Johan den Dunnen
00147069 29100091-Fam8 PubMed: de Tomasi 2017 2-generation family, 3 affecteds - - France - - 0 - - CAKUT 1 affected unilateral case, 2 deceased bilateral cases GREB1L GREB1L 1 3 Johan den Dunnen
00147070 29100091-Fam9 PubMed: de Tomasi 2017 2-generation family, 3 affecteds (2F, M) F;M - France - - 0 - - CAKUT 1 affected unilateral case, 2 deceased bilateral cases GREB1L GREB1L 1 3 Johan den Dunnen
00147071 29100091-Fam10 PubMed: de Tomasi 2017 2-generation family, 1 affected M - France - - 0 - - CAKUT 1 deceased bilateral case GREB1L GREB1L 1 1 Johan den Dunnen
00147072 29100091-Fam11 PubMed: de Tomasi 2017 2-generation family, 1 affected M - France - - 0 - - CAKUT 1 deceased bilateral case GREB1L GREB1L 1 1 Johan den Dunnen
00147073 29100091-Fam12 PubMed: de Tomasi 2017 2-generation family, 1 affected M - France - - 0 - - CAKUT 1 deceased bilateral case GREB1L GREB1L 1 1 Johan den Dunnen
00147074 29100091-Fam13 PubMed: de Tomasi 2017 2-generation family, 1 affected, unaffected carrier mother M - France - - 0 - - CAKUT 1 deceased bilateral case GREB1L GREB1L 1 1 Johan den Dunnen
00147075 29100091-Fam14 PubMed: de Tomasi 2017 2-generation family, 2 affecteds (F, M), unaffected carrier sib F;M - France - - 0 - - CAKUT 1 affected unilateral case, 1 deceased bilateral case GREB1L GREB1L 1 2 Johan den Dunnen
00147076 29100091-Fam15 PubMed: de Tomasi 2017 2-generation family, 1 affected, unaffected carrier father F - France - - 0 - - CAKUT 1 affected unilateral case GREB1L GREB1L 1 1 Johan den Dunnen
00147077 29100091-Fam16 PubMed: de Tomasi 2017 2-generation family, 1 affected M - France - - 0 - - CAKUT 1 affected unilateral case GREB1L GREB1L 1 1 Johan den Dunnen
00231057 - - - M - - - - 0 - - CAKUT - HNF1B HNF1B 1 1 Vincent Guigonis
00231079 - - - F - - - - 0 - - CAKUT - HNF1B HNF1B 1 1 Vincent Guigonis
00231080 - - - F - - - - 0 - - CAKUT - HNF1B HNF1B 1 1 Vincent Guigonis
00231103 - - - M - - - - 0 - - CAKUT - HNF1B HNF1B 1 1 Vincent Guigonis
00269855 B1402 PubMed: Mann 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Macedonia - - 0 - - CAKUT bilateral vesicoureteral reflux, grade IV recurrent vesicoureteral reflux, post ureteral reimplantation, chronic kidney disease (stage 2); no dysautonomic manifestations CHRNA3 CHRNA3 1 1 Johan den Dunnen
00269856 B1717-21 PubMed: Mann 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M yes - Arab - 0 - - CAKUT non-neurogenic, neurogenic bladder, bilateral vesicoureteral reflux, grade V bilateral hydronephrosis, atrophic left kidney, chronic kidney disease (stage 2), impaired pupillary light reflex, orthostatic hypotension CHRNA3 CHRNA3 1 2 Johan den Dunnen
00269857 B1717-22 PubMed: Mann 2019 - M yes - Arab - 0 - - CAKUT recurrent urinary tract infections, impaired pupillary light reflex CHRNA3 CHRNA3 1 1 Johan den Dunnen
00269858 GM-21 PubMed: Mann 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Pakistan - - 0 - - CAKUT, ID hypertelorism, broad nasal root, intellectual disability, non-neurogenic, neurogenic bladder, left hydronephrosis, right cystic kidney, hypospadias, impaired pupillary light reflex, flat cardiotocography tracing in utero CHRNA3 CHRNA3 2 2 Johan den Dunnen
00269859 GM-22 PubMed: Mann 2019 - F yes Pakistan - - 0 - - CAKUT voiding dysfunction recurrent urinary tract infections, , impaired pupillary light reflex, flat cardiotocography tracing in utero, gastresophageal reflux, failure to thrive CHRNA3 CHRNA3 1 1 Johan den Dunnen
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