Gene: Kirrel MGI:1891396

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kirre like nephrin family adhesion molecule 1
Synonyms:
Neph1,  Kirrel1,  6720469N11Rik

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 Kirrel 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.

The table below shows human diseases associated to Kirrel by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:617575
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... ORPHA:567544
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Nephroblastoma, Stage 5 chronic kidney disease, ... OMIM:194080
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Amyloidosis, Familial Visceral
Hematuria, Proteinuria, Nephropathy, Nephrotic syndrome OMIM:105200
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617729
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:225
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Lcat Deficiency
Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Hematuria, Acute kidney injury, Proteinuria ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Preeclampsia
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria ORPHA:275555
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sc... OMIM:251300
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:1192
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ureteral agenesis OMIM:236500
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... ORPHA:261222
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Neonatal death, Absence of renal corticomedullary d... OMIM:263200
Joubert Syndrome 20
Renal cyst OMIM:614970
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria OMIM:618347
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Increased urinary urate, Renal tubular epithelial necrosis, Acute kidn... OMIM:220150
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Glomerular sclerosis, Decreased glomerular filt... ORPHA:93126
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ... OMIM:300554
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria OMIM:230400
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria ORPHA:369
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Polysyndactyly With Cardiac Malformation
Renal cyst, Stillbirth OMIM:263630
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Proteinuria OMIM:613845
Axial Osteomalacia
Renal cyst OMIM:109130
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exercise-induce... ORPHA:368
Ebola Hemorrhagic Fever
Renal insufficiency, Proteinuria ORPHA:319218
Pseudo-Torch Syndrome 3
Death in infancy, Acute kidney injury, Proteinuria OMIM:618886
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... OMIM:231680
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Nephrotic syndrome, Heavy prote... ORPHA:255249
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, Renal tubular dysfunction, Nephroli... OMIM:277900
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:91138
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:330001
Cystinosis
Aminoaciduria, Nephropathy, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:242900
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... OMIM:220110
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... OMIM:232200
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... ORPHA:411634
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Glycosuria, Renal tubular dysfunction, Proteinuria OMIM:210550
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Stillbirth, Enlarged kidney OMIM:615415
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria OMIM:171420
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Microscopic hematur... ORPHA:1830
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... OMIM:232220
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Glomerulopathy, Tubulointerstitial nephritis, Renal duplicati... ORPHA:33001
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Multicystic kidney dysplasia OMIM:300209
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... ORPHA:567546
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal renal physiology, Proteinuria OMIM:274150
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Rena... OMIM:277400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria ORPHA:713
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2715
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Nephrotic syndrome, N... OMIM:617303
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:86818
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:36412
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney disease, Nephr... ORPHA:488627
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Dark urine, Nephrotic syndrome, Renal insufficiency... ORPHA:93552
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia OMIM:617866
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:228308
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insuff... OMIM:232240
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Campomelia, Cumming Type
Polycystic kidney dysplasia OMIM:211890
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Yellow Fever
Renal insufficiency, Proteinuria, Nephropathy, Oliguria ORPHA:99829
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Oliguria, Abnormal tubulointerstitial morphology, Renal insuffi... ORPHA:340
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria, Death in childhood, Hypospadias OMIM:619147
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst OMIM:615398
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Majeed Syndrome
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:77297
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Proteinuria, Renal Fanconi syndrome ORPHA:263455
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney ORPHA:1988
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Fabry Disease
Lipiduria, Renal insufficiency, Urinary mulberry cells, Proteinuria OMIM:301500
Galloway-Mowat Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:2065
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Joubert Syndrome 14
Renal cyst OMIM:614424
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Nephrocalcinosis, Renal cyst, 3-Methylglutaconic aciduria ORPHA:445038
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Tubulointerstitial nephritis, Renal insufficiency, Proteinuria ORPHA:183
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Ohdo Syndrome
Proteinuria OMIM:249620
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Proteinuria, Nephrotic syndrome OMIM:212065
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement membrane ... OMIM:613159
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria OMIM:232800
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Chronic kidney disease, Renal cyst, Renal insufficiency, Nephritis, Proteinuria OMIM:208500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Pheochromocytoma
Elevated urinary norepinephrine, Renal artery stenosis, Proteinuria OMIM:171300
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria ORPHA:549
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Death in infancy, Dicarboxylic aciduria OMIM:201475
Renal Nutcracker Syndrome
Microscopic hematuria, Hematuria, Renal artery stenosis, Proteinuria ORPHA:71273
Al Amyloidosis
Albuminuria, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney, Renal interstiti... ORPHA:85443
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria, Abnormal tubuloin... ORPHA:411629
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst OMIM:614866
Meckel Syndrome, Type 6
Renal cyst OMIM:612284
Lymphatic Filariasis
Urethral obstruction, Hematuria, Glomerulonephritis, Nephrotic syndrome, Abnormality of the kidne... ORPHA:2035
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Renal insuf... OMIM:600740
Malakoplakia
Dysuria, Hematuria, Urinary hesitancy, Urinary bladder inflammation, Urinary urgency, Proteinuria ORPHA:556
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Focal segmental glomerulosclerosis, Renal tubular atrophy, Decreased glomerular filtration rate, ... OMIM:614748
Systemic Sclerosis
Acute kidney injury, Albuminuria, Glomerulonephritis, Chronic kidney disease, Renal insufficiency... ORPHA:90291
Trisomy 13
Displacement of the urethral meatus, Multiple renal cysts, Hydronephrosis, Abnormality of the ureter ORPHA:3378
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Abnormality of the uret... ORPHA:158684
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria ORPHA:1018
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Renal steatosis, Renal dysplasia,... OMIM:113650
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria ORPHA:228305
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome ORPHA:110
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Hydronephrosis, Hypospadias, Renal cortical microcysts OMIM:214100
Nail-Patella Syndrome
Nephritis, Hematuria, Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nep... ORPHA:2614
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Multicystic kidney dy... ORPHA:93111
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Nephrotic syndrome, Urinary glycosaminoglyca... ORPHA:505248
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Renal cyst OMIM:608091
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Renal insufficiency, Micropenis, Proteinuria, Chordee OMIM:300519
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Renal amyloidosis, Membranous nephropathy, Decreased glomerular... ORPHA:470
Mody
Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria ORPHA:552
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
17Q12 Microdeletion Syndrome
Renal insufficiency, Renal hypoplasia/aplasia, Ureterocele, Multicystic kidney dysplasia ORPHA:261265
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Low-molecular-weight proteinuria OMIM:222448
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Hydronephrosis OMIM:618454
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Ectopic kidney, R... OMIM:122470
Melas
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis ORPHA:550
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Ethylm... ORPHA:26791
Vacterl/Vater Association
Renal agenesis, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic kidney, Hydrone... ORPHA:887
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Renal Fanconi syndrome, Renal insufficiency, Nephrocalcino... OMIM:276700
Meckel Syndrome, Type 7
Multiple glomerular cysts, Stage 5 chronic kidney disease, Multicystic kidney dysplasia OMIM:267010
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hydronephrosis, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, R... OMIM:608836
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Kleefstra Syndrome
Vesicoureteral reflux, Renal cyst, Hydronephrosis, Hypospadias, Renal insufficiency, Micropenis, ... ORPHA:261494
Cystic Echinococcosis
Renal cyst, Membranous nephropathy ORPHA:400
Cystinosis, Nephropathic
Generalized aminoaciduria, Polyuria, Glycosuria, Microscopic hematuria, Stage 5 chronic kidney di... OMIM:219800
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Campomelia, Cumming Type
Multiple renal cysts, Multicystic kidney dysplasia ORPHA:1318
Peutz-Jeghers Syndrome
Multiple renal cysts, Renal cell carcinoma, Abnormality of the ureter ORPHA:2869
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Gitelman Syndrome
Focal segmental glomerulosclerosis, Nocturia, Renal potassium wasting, Enuresis, Urinary incontin... ORPHA:358
Spondyloenchondrodysplasia
Hematuria, Chronic kidney disease, Proteinuria ORPHA:1855
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Mosaic Trisomy 1
Penile hypospadias, Micropenis, Renal cortical cysts, Renal cyst ORPHA:1692
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:243910
Distal Tetrasomy 15Q
Horseshoe kidney, Nephroblastoma, Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the... ORPHA:314588
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ectopic kidney, Hydro... OMIM:146510
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261344
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Immunoglobulin A Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:761
Trisomy 17P
Urethral valve, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Hypoplasia of penis ORPHA:261290
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Bifid ureter, Renal dysplasia, Nephroblastoma, Renal cyst OMIM:617107
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria ORPHA:85448
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insufficiency, Nephrocalcinosi... ORPHA:99880
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Goodpasture Syndrome
Erythrocyte cylindruria, Cylindruria, Glomerulonephritis, Macroscopic hematuria, Renal insufficie... OMIM:233450
Cocaine Intoxication
Hematuria, Acute kidney injury, Glomerulonephritis, Tubulointerstitial nephritis, Proteinuria ORPHA:90068
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Renal dysplasia, Renal agenesis, Multicystic kidney dysplasia ORPHA:3015
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Renal insufficiency OMIM:208540
Parathyroid Carcinoma
Hypercalciuria, Nephroblastoma, Renal hamartoma, Renal cyst, Renal insufficiency, Nephrocalcinosi... ORPHA:143
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Hemoglobinuria ORPHA:447
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Joubert Syndrome 1
Renal cyst, Nephropathy OMIM:213300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria ORPHA:90321
Zellweger Syndrome
Hypospadias, Hydronephrosis, Multicystic kidney dysplasia ORPHA:912
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst ORPHA:480536
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria OMIM:609015
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Aplasia/Hypoplasia of the bladder, Hydroureter, Renal tubular epit... ORPHA:79404
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Fabry Disease
Abnormal renal tubule morphology, Hematuria, Nephropathy, Glomerulopathy, Nephrotic syndrome, Ren... ORPHA:324
Familial Mediterranean Fever
Nephrocalcinosis, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:342
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:308205
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Renal ... ORPHA:369837
Trisomy 20P
Multiple renal cysts, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis,... ORPHA:261318
Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Hydronephrosis, Ureteral stenosis, Renal insufficiency, Proteinuria ORPHA:900
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduria, Aminoacidu... ORPHA:534
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Multicystic kidney dysplasia, Hydroureter ORPHA:2241
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Abnormal penis morphology, Abnormality of the urinary system, Multic... ORPHA:2461
Neuromuscular Oculoauditory Syndrome
Multiple renal cysts, Reduced renal corticomedullary differentiation OMIM:618733
Penile Agenesis
Unilateral renal hypoplasia, Hydroureter, Bilateral renal agenesis, Cystic renal dysplasia, Ureth... ORPHA:49
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria ORPHA:71212
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Multicystic kidney dysplasia, Hydronephrosis, Ur... ORPHA:2473
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Stage 5 chronic kidney disease, Nephrocalcinosis, N... ORPHA:79259
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Abnormality of the upper urinary tract, Renal tubula... ORPHA:99885
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Polycystic kidney dysplasia OMIM:610199
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Neuroleptic Malignant Syndrome
Urinary incontinence, Proteinuria, Acute kidney injury, Myoglobinuria ORPHA:94093
Relapsing Polychondritis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:728
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:370
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Myoglobinuria OMIM:616878
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Unilateral renal agenesis, Pelvic kidney OMIM:156810
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Mosaic Trisomy 9
Multiple renal cysts, Horseshoe kidney, Renal dysplasia, Hydronephrosis, Hypoplasia of penis ORPHA:99776
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Renal neutrophi... ORPHA:91500
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Glomerular sclerosis OMIM:223900
Pearson Syndrome
Lacticaciduria, Glycosuria, Renal cyst, Renal insufficiency, Proteinuria ORPHA:699
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:264580
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464311
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormality of the kidney OMIM:606232
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:613254
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Insulin-Resistance Syndrome Type B
Proteinuria, Nephritis, Glycosuria ORPHA:2298
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Focal segmental glomerulosclerosis OMIM:619127
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Nephroblastoma, Micropenis, Renal cyst OMIM:257300
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464306
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Aminoaciduria, Bicarbonaturia, Proximal renal tubular acidosis, Renal Fanconi ... OMIM:309000
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney OMIM:200995
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2059
15q26 overgrowth syndrome
Horseshoe kidney, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis, Polycystic ... DECIPHER:81
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cell carcinoma, Chronic kidney disease, Renal cyst, Stage 5 chronic k... ORPHA:805
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Urina... ORPHA:191
Short Rib-Polydactyly Syndrome
Nephronophthisis, Urogenital sinus anomaly, Polycystic kidney dysplasia, Hypospadias, Abnormality... ORPHA:1505
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Hydroureter OMIM:236700
Holoprosencephaly
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis ORPHA:2162
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Cockayne Syndrome A
Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Von Hippel-Lindau Syndrome
Multiple renal cysts, Renal cell carcinoma OMIM:193300
Lymphangioleiomyomatosis
Renal neoplasm, Multiple renal cysts, Abnormal urinary color, Hematuria, Renal angiomyolipoma ORPHA:538
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Hemoglobinuria, Acute kidney injury ORPHA:90038
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney ORPHA:464329
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Duplicated collecting system, Renal tubular... OMIM:118450
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Alveolar Echinococcosis
Abnormality of bladder morphology, Renal cyst ORPHA:284
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Hemifacial Microsomia
Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral reflux, Ectopic ... OMIM:164210
Fryns Syndrome
Renal agenesis, Stillbirth, Renal cyst, Hydronephrosis, Hypospadias, Ureteral duplication OMIM:229850
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Nephrotic range proteinuria, Oliguria, Decreased urine output ORPHA:544482
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Renal agenesis, Multicystic kidney dysplasia, Rena... ORPHA:2538
Focal Dermal Hypoplasia
Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2092
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Gaucher Disease
Hematuria, Death in infancy, Proteinuria ORPHA:355
Floating-Harbor Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Congenital posterior ... ORPHA:2044
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Vesicoureteral reflux, Renal cyst OMIM:616975
Smith-Lemli-Opitz Syndrome
Renal hypoplasia, Unilateral renal agenesis, Ureteropelvic junction obstruction, Renal cyst, Hydr... OMIM:270400
Hajdu-Cheney Syndrome
Hypospadias, Renal cyst OMIM:102500
D-Bifunctional Protein Deficiency