Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lin-7 homolog C, crumbs cell polarity complex component
Synonyms:
9130007B12Rik,  LIN-7C,  D2Ertd520e,  MALS-3,  Lin7c,  LIN-7-C,  Veli3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lin7c mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lin7c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... OMIM:616963
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst, Abnormality of the kidney OMIM:615987
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... OMIM:619468
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:256100
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Pelvic kidn... ORPHA:93101
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:602522
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular f... ORPHA:93598
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, El... ORPHA:730
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney ... OMIM:618061
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney OMIM:615993
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:613090
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephronophthisis 16
Nephronophthisis, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal insufficiency, Enl... OMIM:615382
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... ORPHA:85450
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hepatic cysts, Stage 5 chronic kidney disease, Rec... OMIM:613095
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Bardet-Biedl Syndrome 6
Hypospadias, Obesity, Renal cyst OMIM:605231
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Hypomagnesemia 3, Renal
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... OMIM:248250
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria OMIM:233100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612926
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, Unilateral renal agenesis OMIM:618845
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dyspl... OMIM:263200
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria, Hypokalemia OMIM:304900
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy ORPHA:419
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Failure to thrive, Proximal tubu... ORPHA:18
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomeru... ORPHA:488627
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Nephrol... OMIM:232200
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis... OMIM:613550
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Megacystis, Polyuria, Hypernatremia OMIM:125800
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Megacystis, Polyuria, Hypernatremia OMIM:304800
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Nephrol... OMIM:232220
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... ORPHA:567548
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy ORPHA:1909
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Renal agenesis, Unilateral renal agenesis OMIM:601076
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia, Nephropathy, Chronic kidney disease OMIM:617056
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Glycogen Storage Disease Iv
Failure to thrive, Tubulointerstitial fibrosis OMIM:232500
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia OMIM:609886
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... OMIM:231680
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... OMIM:137920
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu... ORPHA:157
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hyperlipidemia, Hematuria, Decreased glomerular filtration ra... OMIM:232240
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease, Micropenis, Obesity, Polyuria OMIM:615994
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... ORPHA:411709
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast... OMIM:607364
Bardet-Biedl Syndrome 4
Obesity, Renal cyst, Abnormality of the kidney OMIM:615982
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu... ORPHA:228308
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Braddock Syndrome
Failure to thrive, Unilateral renal agenesis ORPHA:52047
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Patent ductus arteriosus, Unilateral renal agenesis OMIM:618142
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular ... ORPHA:340
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hyperphosphaturia, Calcinosis, Aminoaciduria, Failure to thrive, Hypophosphatemia,... OMIM:239200
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Polyuria, Hypokalemia, Hypercalciuria OMIM:613677
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Teratoma, Pineal
Polyuria OMIM:273120
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria OMIM:560000
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Polycystic kidney dysplasia OMIM:608776
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Patent ductus arteriosus, Unilateral renal agenesis OMIM:608406
Helix Syndrome
Hypokalemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insufficiency OMIM:617671
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias OMIM:600057
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemia, Nephrocalcinosis,... OMIM:601678
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613779
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Proximal tubulopathy, Failure to thrive, Pate... OMIM:614576
Alkaptonuria
Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Nephrolithiasis OMIM:203500
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... OMIM:612780
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis ORPHA:1471
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr... ORPHA:231111
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Uremic Pruritus
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... ORPHA:94059
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena... OMIM:243910
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Methylmalonic aciduria, Failure to thrive, Unilateral renal agenesis, Elevat... ORPHA:79284
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... ORPHA:567544
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Decreased plasma free carnitine, Hydronephrosis, Elevated circulating long ... OMIM:608836
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Eunuchoid habitus, Unilateral renal agenesis OMIM:308750
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Coach Syndrome 1
Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas... OMIM:216360
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Renal cyst, Nephropathy OMIM:611773
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb... OMIM:617641
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Ectopic kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Unilateral renal agenesis, Polycystic kid... ORPHA:2237
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis OMIM:609757
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Lacticaciduria, Elevated circulating creatine kinase concentration, Glutar... ORPHA:26791
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... OMIM:614748
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney OMIM:613730
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Small for gestational age ORPHA:294975
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Gitelman Syndrome
Hypokalemia, Failure to thrive, Hypomagnesemia, Hypocalciuria, Renal potassium wasting, Enuresis,... OMIM:263800
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... ORPHA:91500
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Polycystic kidney dysplasia, Aminoaciduria, Elevated circulating long chain fa... OMIM:214110
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemia, Nephrocalcinosis, Increased urin... OMIM:241200
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... ORPHA:839
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Renal dysplasia, Polycystic kidney dysplasia, Abnormal renal c... OMIM:113650
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Eunuchoid habitus, Unilateral renal agenesis OMIM:308700
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... ORPHA:79233
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Renal dysplasia, Hepatic cysts, Patent ductus arteriosus, Polycystic kidney dys... OMIM:208540
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Horseshoe kidney, Patent ductus arteriosus, Recurrent urinary tract infections, Micr... ORPHA:363444
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... OMIM:104200
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome OMIM:249660
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Obesity, Proteinuri... ORPHA:261222
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi... OMIM:618183
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Patent ductus arteriosus OMIM:617661
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Small for gestational age, Unilateral renal agenesis OMIM:618419
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Patent ductus arteriosus, Large for gestational age, Polycystic... ORPHA:314588
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis OMIM:120400
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... OMIM:619113
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Glycosuria, Nephropathy ORPHA:69076
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Nephrocalcinosis, Failure to thrive, Tubulointerstitial fibrosis, Polycystic ovar... ORPHA:79259
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Thymic Aplasia With Fetal Death
Ureteral agenesis, Renal agenesis OMIM:274210
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Renal cyst, Multiple renal cysts OMIM:614883
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Joubert Syndrome 39
Polycystic kidney dysplasia, Overweight OMIM:619562
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Meier-Gorlin Syndrome 8
Renal hypoplasia, Decreased body weight OMIM:617564
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Abnormal circulating lipid concentration, Truncal obesity, Micropenis, Unilater... OMIM:616541
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Congenital nep... OMIM:256300
Joubert Syndrome 20
Renal cyst OMIM:614970
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Trisomy 17P
Urethral valve, Hydronephrosis, Urethral stenosis, Patent ductus arteriosus, Polycystic kidney dy... ORPHA:261290
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:308205
Emanuel Syndrome
Renal hypoplasia, Failure to thrive, Patent ductus arteriosus, Micropenis, Unilateral renal agenesis ORPHA:96170
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Failure to thrive, Pelvic kidney, Unilateral renal agen... OMIM:156810
Cystinosis, Nephropathic
Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Failure to thrive in infancy, Ne... OMIM:219800
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Schizophrenia 1
Partially duplicated kidney, Ectopic kidney, Renal agenesis OMIM:181510
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ... OMIM:614527
Hereditary Xanthinuria
Hypouricemia, Hydronephrosis, Hyperxanthinemia, Decreased urinary urate, Increased urinary hypoxa... ORPHA:3467
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Nephropathy OMIM:266920
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Renal cyst OMIM:614175
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia OMIM:300323
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... OMIM:211900
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Failure to thrive, Patent ductus ... ORPHA:2970
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal cyst, Renal hypoplasia, Ureteral agenesis OMIM:236500
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal dysplasia, Ectopic kidney, Renal agenesis ORPHA:2578
Microcephaly 17, Primary, Autosomal Recessive
Failure to thrive, Renal agenesis OMIM:617090
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia ORPHA:214
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... OMIM:613388
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Patent ductus arteriosus, Vesicoureteral ... OMIM:606232
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Mody
Renal cyst, Glycosuria, Large for gestational age, Elevated hemoglobin A1c, Nephropathy, Overweig... ORPHA:552
Dopamine Beta-Hydroxylase Deficiency
Nocturia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... ORPHA:230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, ... OMIM:615287
Caroli Disease
Weight loss, Polycystic kidney dysplasia, Conjugated hyperbilirubinemia ORPHA:53035
Systemic Capillary Leak Syndrome
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology ORPHA:188
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Small for gestational age, Unilateral renal agenesis OMIM:101800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Hydronephrosis, Small for gestational age, Failure to thrive, Pelvic kidney, Renal c... ORPHA:464311
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoac... OMIM:616026
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... ORPHA:35710
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Pancreatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infection... ORPHA:731
15q26 overgrowth syndrome
Horseshoe kidney, Hydronephrosis, Renal agenesis, Duplication of renal pelvis, Polycystic kidney ... DECIPHER:81
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis OMIM:616737
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Hyperuricosuria, Acute kidney injury, Uric acid nephrolithiasis, Crystalluria, Ren... ORPHA:411543
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis OMIM:607944
Cockayne Syndrome Type 1
Failure to thrive, Proteinuria, Renal insufficiency, Increased blood urea nitrogen ORPHA:90321
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Renal cyst, Pancreatic cysts OMIM:610199
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... OMIM:134600
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hydronephrosis, Small for gestational age, Failure to thrive, Pelvic kidney, Renal c... ORPHA:464306
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Goodpasture Syndrome
Macroscopic hematuria, Weight loss, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylin... OMIM:233450
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Renal insufficiency, Uric acid nephrolithiasis, Hyperuricemia OMIM:300661
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis, Obesity OMIM:300209
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Failure to thrive, Abnormal renal physiology, Hematuria... OMIM:308940
Orofaciodigital Syndrome I
Pancreatic cysts, Myelomeningocele, Hepatic cysts, Polycystic kidney dysplasia, Proteinuria, Ovar... OMIM:311200
Syndromic Diarrhea
Renal hypoplasia, Abnormality of iron homeostasis, Small for gestational age, Patent ductus arter... ORPHA:84064
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Failure to thrive, Renal cyst, Hyperbilirubinemia, Dark u... ORPHA:79303
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... OMIM:613159
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Hydroureter, Polycystic kidney dysplasia OMIM:236700
Short Rib-Polydactyly Syndrome
Hypospadias, Nephronophthisis, Hepatic cysts, Urogenital sinus anomaly, Polycystic kidney dysplas... ORPHA:1505
Tuberous Sclerosis Complex
Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease, Polycystic kidne... ORPHA:805
Distal Monosomy 12Q
Hydronephrosis, Failure to thrive in infancy, Obesity, Patent ductus arteriosus, Micropenis, Poly... ORPHA:96149
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Obesity, Nephrotic syndrome ORPHA:110
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated circulating creatinine ... ORPHA:542323
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Renal agenesis, Elevated 7-dehydrocholesterol, Hyp... OMIM:270400
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis, Enuresis, Obesity ORPHA:96121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Renal cyst, Patent ductus arteriosus, Large for gestational age, Ureteral steno... OMIM:615398
Duplication Of Urethra
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C... ORPHA:237
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Pelvic kidney, Abnormal renal collecting system morphology, Severe failure to thrive... ORPHA:468631
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis ORPHA:221139
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... ORPHA:173
Cockayne Syndrome Type 3
Renal hypoplasia, Hydronephrosis, Urinary retention, Unilateral renal agenesis, Hydroureter, Rena... ORPHA:90324
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:159
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aplasia of the bladder OMIM:200980
Caroli Syndrome
Polycystic kidney dysplasia, Conjugated hyperbilirubinemia, Abnormality of the kidney, Hyperbilir... ORPHA:480520
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Renal cell carcinoma, Hype... ORPHA:93111
Acute Monoblastic/Monocytic Leukemia
Weight loss, Oliguria ORPHA:514
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hypokalemia, Failure to thr... ORPHA:411629
Meckel Syndrome, Type 2
Meningocele, Renal cyst OMIM:603194
Floating-Harbor Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Small for gestational age, Nephrocalcinosis, Congeni... ORPHA:2044
Cockayne Syndrome
Renal hypoplasia, Cachexia, Nephrotic syndrome, Abnormal renal physiology, Hyperuricemia, Urinary... ORPHA:191
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Failure to thrive, Abnormal uri... ORPHA:320
Zttk Syndrome
Horseshoe kidney, Failure to thrive, Patent ductus arteriosus, Unilateral renal agenesis, Polyuria OMIM:617140
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis ORPHA:445038
Transketolase Deficiency
Renal cyst, Elevated circulating ribitol concentration, Patent ductus arteriosus, Increased level... ORPHA:488618
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Renal agenesis, Patent ductus arteriosus OMIM:613680
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney OMIM:602200
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... ORPHA:31824
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts, Increased serum pyruvate, Hyperalaninemia OMIM:617668
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Failure to thrive, Renal cyst, Hyp... OMIM:212065
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis ORPHA:2155
Penoscrotal Transposition
Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasia, Abnormality of the ureth... ORPHA:2842
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Multicystic kidney dysplasia ORPHA:261265
Nephrolithiasis, Calcium Oxalate
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Unilateral renal agenesis OMIM:154400
Meckel Syndrome, Type 1
Abnormality of the ureter, Renal agenesis, Patent ductus arteriosus, Polycystic kidney dysplasia,... OMIM:249000
Parathyroid Carcinoma
Hypercalcemia, Nephrocalcinosis, Weight loss, Hypophosphatemia, Renal cyst, Nephrolithiasis, Rena... ORPHA:143
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... ORPHA:3337
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Hypertrophy of the urinary bladder, Renal hypoplasia, Urethral obstruction, Renal dysplasia OMIM:601389
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney... ORPHA:2973
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Bilateral renal agenesis, Unilateral renal agenesis OMIM:619194
Joubert Syndrome 14
Renal cyst OMIM:614424
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary system, Abnormal localizati... ORPHA:1834
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Leopard Syndrome 1
Hypospadias, Micropenis, Unilateral renal agenesis OMIM:151100
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal Fanconi syndrome, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Failure to ... ORPHA:411634
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithel... ORPHA:31826
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Enlarged kidney OMIM:615415
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia, Failure to thrive ORPHA:2115
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis ORPHA:487796
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Meningocele, Occipital myelomeningocele, Failure to thrive, Hypoca... ORPHA:567
Cystic Echinococcosis
Membranous nephropathy, Hepatic cysts, Weight loss, Renal cyst, Hyperbilirubinemia, Ovarian cyst ORPHA:400
Meckel Syndrome, Type 7
Pancreatic cysts, Stage 5 chronic kidney disease, Patent ductus arteriosus, Multicystic kidney dy... OMIM:267010
Digeorge Syndrome
Hydronephrosis, Renal dysplasia, Patent ductus arteriosus, Unilateral renal agenesis, Hypocalcemi... OMIM:188400
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Calcinosis, Hydronephrosis OMIM:617913
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Abnormality of the urinary system, Polycystic ovaries, Micropenis, Unilateral renal ... ORPHA:95699
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Failure to thrive in infancy, Small for gestational age, Chordee, Recurrent urinary ... ORPHA:268261
Meckel Syndrome, Type 6
Renal cyst OMIM:612284
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal cyst, Nephrolithiasis, Renal hamartoma, ... ORPHA:99880
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Meckel Syndrome, Type 4
Meningocele, Renal cyst OMIM:611134
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Renal cyst, Renal cortical microcysts OMIM:614866
Matthew-Wood Syndrome
Failure to thrive, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux ORPHA:2470
Microscopic Polyangiitis
Glomerulopathy, Hematuria, Renal insufficiency, Oliguria ORPHA:727
Caudal Regression Sequence
Ureteral duplication, Abnormality of the ureter, Renal agenesis, Vesicoureteral reflux, Ectopic k... ORPHA:3027
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Joubert Syndrome 2
Failure to thrive, Abnormal renal physiology, Renal cyst, Nephronophthisis OMIM:608091
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Nephritis, Renal cyst, Conjugated hyperbilirubinemia, Chronic kidney disease, P... OMIM:208500
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Unilateral renal agenesis ORPHA:261337
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... ORPHA:90038
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Serkal Syndrome
Hypospadias, Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis ORPHA:139466
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis ORPHA:2290
Roberts Syndrome
Polycystic kidney dysplasia, Long penis ORPHA:3103
Femoral-Facial Syndrome
Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology OMIM:134780
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Small for gestational age, Hypocalcemia, Hy... OMIM:618440
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Autosomal Dominant Cutis Laxa
Pyelonephritis, Bladder diverticulum, Unilateral renal agenesis ORPHA:90348
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Renal cyst, Patent ductus arteriosus, Vesicoureteral reflux, Mi... OMIM:618454
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Failure to thrive in infancy OMIM:618829
Sepsis In Premature Infants
Small for gestational age, Reversible renal failure, Oliguria, Decreased body weight, Elevated ci... ORPHA:90051
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Patent ductus arteriosus, Displacement of the urethral... ORPHA:3378
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis, Patent du... OMIM:619351
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Patent ductus arteriosus, Unilateral renal agenesis ORPHA:141099
Lassa Fever
Oliguria ORPHA:99824
Mckusick-Kaufman Syndrome
Hydronephrosis, Failure to thrive, Patent ductus arteriosus, Urogenital sinus anomaly, Renal hypo... ORPHA:2473
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Kleefstra Syndrome
Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Vesicoureteral reflux, Obesity, Hypoplasia o... ORPHA:261494
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cystic renal dysplasia, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Patent... OMIM:220500
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts, Enlarged polycystic ovaries ORPHA:2869
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal dysplasia, Renal cyst, Bifid ureter, Large for gestational age, Nephrobl... OMIM:617107
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Hydronephrosis, Urinary retention, Failure to thrive, Aplasia/Hypoplasia of... ORPHA:79404
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Bnar Syndrome
Renal agenesis ORPHA:217266
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Renal phosphate wasting, Renal hypophosphatemi... ORPHA:289176
Schisis Association
Renal agenesis, Small for gestational age ORPHA:63862
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Multicystic kidney dysplasia, Abnormality of the ure... ORPHA:887
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst, Patent ductus arteriosus OMIM:617260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital m... ORPHA:369837
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Renal agenesis OMIM:192050
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephro... ORPHA:544482
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Ulbright-Hodes Syndrome
Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology ORPHA:3404
Zellweger Syndrome
Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Failure to thrive ORPHA:912
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis ORPHA:1297
Lumbar Syndrome
Hypospadias, Renal agenesis, Myelomeningocele, Renal duplication, Micropenis, Vesicoureteral refl... ORPHA:83628
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Multiple renal cysts, Reduced renal corticome... OMIM:618733
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Multicystic kidney dysplasia, Obesity ORPHA:261197
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Patent ductus arteriosus after birth at term, Failure to thrive in infancy, Uni... ORPHA:500150
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Marden-Walker Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Abnormal penis morphology, Abnormality of the urinar... ORPHA:2461
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Megacystis, Hydroureter ORPHA:2241
Joubert Syndrome 5
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... OMIM:610188
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Renal agenesis, Small for gestational age, Duplicated collecting system, Abnorm... OMIM:600901
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Urethral fistula, Absent peni... ORPHA:49
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Failure to thrive, Renal tubular acidosis, ... OMIM:118450
Pallister-Hall Syndrome
Hypospadias, Renal dysplasia, Bilateral renal agenesis, Patent ductus arteriosus, Large for gesta... ORPHA:672
Alveolar Echinococcosis
Pancreatic cysts, Weight loss, Hepatic cysts, Renal cyst, Abnormality of bladder morphology ORPHA:284
Joubert Syndrome 1
Renal cyst, Occipital myelomeningocele, Nephropathy OMIM:213300
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Obesity ORPHA:1001
Lujo Hemorrhagic Fever
Microscopic hematuria, Elevated circulating C-reactive protein concentration, Renal insufficiency... ORPHA:319213
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Renal agenesis, Small for gestational age, Duplicated collecting system, Abnorm... OMIM:227650
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Patent ductus arteriosus OMIM:616300
Von Hippel-Lindau Syndrome
Renal cell carcinoma, Pancreatic cysts, Multiple renal cysts, Epididymal cyst OMIM:193300
Pearson Syndrome
Hypokalemia, Lacticaciduria,