Disease #05342 (CAKUT (kidney and urinary tract, anomalies, congenital (CAKUT)))

Official abbreviation CAKUT
Name kidney and urinary tract, anomalies, congenital (CAKUT)
OMIM ID -
Inheritance -
Individuals reported having this disease 211
Phenotype entries for this disease 211
Associated with 5 genes CHRNA3, DSTYK, FOXD2, SLIT3, TBX18
Associated tissues -
Disease features -
Remarks -


Individuals

211 entries on 3 pages. Showing entries 1 - 100.
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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
00303417 family Riedhammer ESHG2020 C14.1 6-generation family, 4 affected (F, 3M), , unaffected heterozygous carrier parents/relatives F;M yes - Arab - 0 - - CAKUT - FOXD2 FOXD2 1 1 Johan den Dunnen
00311131 GM10-21 PubMed: Connaughton 2020 - F - Netherlands - - 0 - - CAKUT renal ultrasound normal; downslanting palpebral fissures; hypotonia, intellectual disability, stereotypic movements ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311132 GM1-21 PubMed: Connaughton 2020 - M - United States - - 0 - - CAKUT upper urinary tract renal agenesis, lower urinary tract hypospadias, cryptorchidism, chordee, Müllerian duct remnants; bicuspid aortic valve; small hands & feet; skin: facial dysmorphsims, convex dysplastic finger nails, hypoplastic toenails; feeding problems, oral phase dysphagia, intra-uterine growth retardation, growth delay; microcephaly, developmental delay, hypotonia, tethered cord ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311133 GM3-21 PubMed: Connaughton 2020 - M - United States - - 0 - - CAKUT upper urinary tract renal ultrasound normal, lower urinary tract enuresis, incontinence; patent ductus arteriosus; facial dysmorphsims; dental caries; developmental delay, autistic spectrum ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311134 GM9-21 PubMed: Connaughton 2020 - F - - white - 0 - - CAKUT upper urinary tract hypoplastic pelvic kidney (R) detected by “reverse phenotyping”; facial dysmorphisms (triangular face, broad neck, broad nasal bridge), scoliosis; single palmar crease on left, tapered fingers, tapered lower extremities; developmental delay, auditory attention, startle reflex, motor stereotypies ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311135 SSC3-21 PubMed: Connaughton 2020 - F - Italy - - 0 - - CAKUT upper urinary tract ureteropelvic junction obstruction (L); mild intellectual disability ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311136 A4730-21 PubMed: Connaughton 2020 - M - Macedonia - - 0 - - CAKUT upper urinary tract prenatal hydronephrosis, lower urinary tract bilateral vesicoureteral reflux grade 3, urethral stricture, hydrocele testis; facial dysmorphism (wide interpupillary distance, mild epicanthal folds, long nose with a bulbous tip, farsightedness, low set posteriorly rotated ears with a simple helix and protuberant ears), hyper-extensibility of the joints; speech delay ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311137 A1204-21 PubMed: Connaughton 2020 - F - Macedonia - - 0 - - CAKUT upper urinary tract renal agenesis (R); hematocolpos, imperforate hymen ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311138 GM11-21 PubMed: Connaughton 2020 - M - Morocco - - 0 - - CAKUT renal ultrasound normal; hypertelorsism, small ears, thick lips, high palate, facial dysmorphsims; obstructive sleep apnoea; developmental delay, mild intellectual disability, seizures, autism, psychosis ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311139 GM17-21 PubMed: Connaughton 2020 - M - - white - 0 - - CAKUT mild hypospadias, distal chordee and dorsal hooding; aplasia cutis; acute lymphoblastic leukemia; developmental delay, autism spectrum disorder (mother has attention deficit hyperactivity disorder and learning disability) ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311140 GM19-21 PubMed: Connaughton 2020 - M - Switzerland - - 0 - - CAKUT renal ultrasound normal; seizure disorder, MRI normal, low IQ (85) ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311141 GM6-21 PubMed: Connaughton 2020 2-generation family, 2 affected sisters F - - white - 0 - - CAKUT renal ultrasound normal; ventricular septal defect, atrial septal defect, patent ductus arteriosus; short stature −2 SD, short 5th digit with abnormal nails, bilateral epicanthi, abnormal palmar crease, upturned nasal tip and severe feeding problems; microcephaly, developmental delay ZMYM2 ZMYM2 1 2 Johan den Dunnen
00311142 GM6-22 PubMed: Connaughton 2020 sister F - - white - 0 - - CAKUT renal ultrasound normal; bilateral epicanthus, abnormal palmar crease; speech delay ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311143 GM18-12 PubMed: Connaughton 2020 2-generation family, 3 affected (mother/daughter/son), daughter F - - white - 0 - - CAKUT atrial septal defect; epicanthal folds; attention deficit hyperactivity disorder, autism, behavioral concerns ZMYM2 ZMYM2 1 3 Johan den Dunnen
00311144 GM18-22 PubMed: Connaughton 2020 brother M - - white - 0 - - CAKUT atrial septal defect ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311145 GM18-21 PubMed: Connaughton 2020 mother F - - white - 0 - - CAKUT renal ultrasound normal; atrial septal defect ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311146 GM7-21 PubMed: Connaughton 2020 - F - - white - 0 - - CAKUT renal ultrasound normal; ECHO heart normal; dysmorphic facial features, short 5th fingers & thumbs, broad big toes, 5th finger clinodactyly, mild short stature (9th percentile); microcephaly, developmental delay, hypotonia, high hyperopia ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311147 GM13-21 PubMed: Connaughton 2020 - F - - white - 0 - - CAKUT renal ultrasound normal; ECHO heart normal; short stature (3rd percentile), dysmorphic facial features (wide eyebrows, wide interpupillary and intercanthal distance, epicanthal folds, narrow downslanting palpebral fissures, nose with a wide tip, downturned corners of the mouth, small and low set ears with hypoplastic lobule), 5th finger clinodactyly; microcephaly, developmental delay, speech delay ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311148 GM12-21 PubMed: Connaughton 2020 2-generation family, 2 affected (mother/son), son M - - white - 0 - - CAKUT renal ultrasound bilateral malrotated kidneys and the right is low lying; dysmorphic facial features (narrow palpebral fissures, epicanthi and telecanthus, small nose and a grooved single philtrum with mild hypoplastic nasal nares), short, thick fingers, increased range of motion joints; developmental delay, speech delay, hypotonia ZMYM2 ZMYM2 1 2 Johan den Dunnen
00311149 GM12-12 PubMed: Connaughton 2020 mother F - - white - 0 - - CAKUT intellectually disability ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311150 SSC1-21 PubMed: Connaughton 2020 - M - Poland - - 0 - - CAKUT upper urinary tract renal agenesis (L); atrial septal defect ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311151 A781-21 PubMed: Connaughton 2020 - F - Macedonia - - 0 - - CAKUT upper urinary tract duplex kidney (bilateral), lower urinary tract ureterocele (L); facila dysmorphism; congenital hip dysplasia ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311152 SSC2-21 PubMed: Connaughton 2020 - M - Italy - - 0 - - CAKUT upper urinary tract ureteropelvic junction obstruction (L); heart WPW syndrome ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311153 GM16-21 PubMed: Connaughton 2020 - - - - - - 0 - - CAKUT excessive femoral anteversion, gait disturbance; alopecia, ectodermal dysplasia; hyponatremia, hypothyroidism, ichthyosis, neutropenia, photophobia, recurrent infections, abnormal thrombosis, thrombocytopenia; global developmental delay, mild intellectual disability, rotary nystagmus, seizures ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311154 GM15-21 PubMed: Connaughton 2020 - - - - - - 0 - - CAKUT scoliosis; macrocephaly, hypotonia, developmental delay ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311155 A3928-21 PubMed: Connaughton 2020 - M - India - - 0 - - CAKUT upper urinary tract renrenomegaly (bilateral) ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311156 B1410-21 PubMed: Connaughton 2020 2 afected brothers M - Macedonia - - 0 - - CAKUT see paper; ... ZMYM2 ZMYM2 1 2 Johan den Dunnen
00311157 A663-21 PubMed: Connaughton 2020 - F - Kuwait - - 0 - - CAKUT upper urinary tract horseshoe kidney, ureteropelvic junction obstruction (L) ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311158 A3135-21 PubMed: Connaughton 2020 - M - Kuwait - - 0 - - CAKUT upper urinary tract horseshoe kidney, renal calculi ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311159 B960-21 PubMed: Connaughton 2020 - F - - white - 0 - - CAKUT upper urinary tract ureteropelvic junction obstruction (bilateral), renal calculi ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311160 SSC4-21 PubMed: Connaughton 2020 - M - Netherlands - - 0 - - CAKUT upper urinary tract renal agenesis (L), lower urinary tract duplex urethra; club hand, hemi-vertebrae, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311161 SSC5-21 PubMed: Connaughton 2020 - F - Macedonia - - 0 - - CAKUT upper urinary tract ureteropelvic junction obstruction (R) ZMYM2 ZMYM2 1 1 Johan den Dunnen
00311162 B1287-21 PubMed: Connaughton 2020 - M - - - - 0 - - CAKUT see paper; ... ZMYM3 ZMYM3 1 1 Johan den Dunnen
00311163 B2323-21 PubMed: Connaughton 2020 - M - - - - 0 - - CAKUT see paper; ... ZMYM3 ZMYM3 1 1 Johan den Dunnen
00315250 - PubMed: Hwang 2013 Individual A3148-21 in published report M - - European - 0 - - CAKUT Non-renal findings and family history not reported; Bilateral renal hypodysplasia, bilateral renal cysts PAX2 PAX2 1 1 Matthew Bower
00315251 - PubMed: Hwang 2013 individual A2334-21 in published report F - - white - 0 - - CAKUT Other findings and family history not reported; bilateral renal hypodysplasia, bilateral renal cysts; ganglioneuroblastoma PAX2 PAX2 1 1 Matthew Bower
00315252 - PubMed: Hwang 2013 individual A1087-21 in published report - - - Eastern European - 0 - - CAKUT Other details not published; bilateral ureterovesicle junction obstruction PAX2 PAX2 1 1 Matthew Bower
00315253 - PubMed: Hwang 2013 Individual A3872-21 in published report M - India - - 0 - - CAKUT Additional details on medical and family history not provided.; Bilateral renal hypodysplasia, bilateral renal cysts PAX2 PAX2 1 1 Matthew Bower
00315254 - PubMed: Hwang 2013 Individual A1743-12 in manuscript F - - European - 0 - - CAKUT other findings and family history not provided.; renal cysts PAX2 PAX2 1 1 Matthew Bower
00315255 - PubMed: Hwang 2013 Individual A1743-21 in publication F - - European - 0 - - CAKUT renal cysts PAX2 PAX2 1 1 Matthew Bower
00315272 - PubMed: Barua 2014 Individual CKT-11C in published report - - - - - 0 - - CAKUT CAKUT; Solitary kidney with hydronephrosis and hydrocele PAX2 PAX2 1 1 Matthew Bower
00315273 - PubMed: Barua 2014 Individual CKT34C in published report - - - - - 0 - - CAKUT Unilateral UPJO; Ventriculomegaly, facial dysmorphism; seizures; Unilateral UPJO; ventriculomegaly, seizures PAX2 PAX2 2 1 Matthew Bower
00315274 - PubMed: Barua 2014 Individual CKT35C in publication - - - - - 0 - - CAKUT CAKUT; Unilateral UPJO, Bilateral VUR PAX2 PAX2 1 1 Matthew Bower
00315275 - PubMed: Barua 2014 Patient CKT39C in published report - - - - - 0 - - CAKUT CAKUT; ventriculomegaly; Solitary kidney; unilateral ventriculomegaly PAX2 PAX2 1 1 Matthew Bower
00315276 - PubMed: Barua 2014 Individual CKT46C in published report - - - - - 0 - - CAKUT CAKUT; dysmorphic features, hemifacial microsomia; Horseshoe kidney, Small ectopic left kidney PAX2 PAX2 1 1 Matthew Bower
00315277 - PubMed: Barua 2014 Individual CKT-89c in publication - - - - - 0 - - CAKUT CAKUT; Left UPJO, right VUR PAX2 PAX2 1 1 Matthew Bower
00315278 - PubMed: Barua 2014 Individual CKT-54c Note-discrepancy between HG19 contains 3 bases of DNA not present in NM_03990.3 or NM_03987.3 - - - - - 0 - - CAKUT CAKUT; Unilaeral UVJO/UPJO PAX2 PAX2 1 1 Matthew Bower
00315283 - PubMed: Nicolaou 2016 - F - - - - 0 - - CAKUT CAKUT; Unilateral renal dysplasia PAX2 PAX2 1 1 Matthew Bower
00315284 - PubMed: Nicolaou 2016 - M - - - - 0 - - CAKUT unilateral renal dyplasia PAX2 PAX2 1 1 Matthew Bower
00315285 - PubMed: Nicolaou 2016 - M - - - - 0 - - CAKUT Coloboma; renal dysplasia PAX2 PAX2 1 1 Matthew Bower
00316076 K1 PubMed: Heidet 2017 - - - France - - 0 - - CAKUT renal hypoplasia HIC1, MMP9, PDE3B HIC1, MMP9, PDE3B 3 1 Johan den Dunnen
00316077 K10 PubMed: Heidet 2017 fetus - - France - - 0 - - CAKUT bilateral kidney agenesis SPOCK2 SPOCK2 1 1 Johan den Dunnen
00316078 K100 PubMed: Heidet 2017 - - - France - - 0 - - CAKUT renal dysplasia BMPR1A BMPR1A 1 1 Johan den Dunnen
00316079 K101 PubMed: Heidet 2017 affected patient and 1st degree relative (deafness) - - France - - 0 - - CAKUT unilateral kidney agenesis; ear tag, external ear canal stenosis GATA3 GATA3 1 2 Johan den Dunnen
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