Gene: Glis2 MGI:1932535

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

GLIS family zinc finger 2

Synonyms:

Nkl

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Glis2 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.

Human diseases associated with Glis2 (1 diseases)
Human diseases predicted to be associated with Glis2 (871 diseases)

The table below shows human diseases associated to Glis2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nephronophthisis 7		Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611498

The table below shows human diseases predicted to be associated to Glis2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f...	OMIM:613092
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa...	OMIM:619201
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Focal Segmental Glomerulosclerosis 7	Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616002
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome...	OMIM:310468
Idiopathic Non-Lupus Full-House Nephropathy	Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre...	ORPHA:567544
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine...	OMIM:614196
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:616032
Nephrotic Syndrome, Type 19	Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,...	OMIM:618178
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb...	OMIM:614131
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:618176
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k...	OMIM:603965
Nephronophthisis-Like Nephropathy 2	Polydipsia, Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney...	OMIM:619468
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits	ORPHA:69063
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum...	OMIM:615573
Nephronophthisis 7	Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611498
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di...	OMIM:600995
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur...	OMIM:615008
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De...	OMIM:174000
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi...	OMIM:617609
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon...	OMIM:615861
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy	OMIM:182690
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy...	OMIM:308990
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei...	OMIM:613237
Nephronophthisis 20	Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:617271
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency	OMIM:607832
Lipoprotein Glomerulopathy	Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Senior-Loken Syndrome 1	Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia	OMIM:266900
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616220
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb...	OMIM:618349
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem...	OMIM:603278
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc...	OMIM:161900
Senior-Loken Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:609254
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen...	OMIM:614817
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Nephropathy, Glomerulopathy, P...	OMIM:254900
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum...	OMIM:610725
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613779
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:606966
Senior-Loken Syndrome 4	Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia	OMIM:606996
C3 Glomerulopathy 3	Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis	OMIM:614809
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Membranoproliferative gl...	OMIM:608709
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot process effacement,...	OMIM:617006
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Nephronophthisis 1	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:256100
Nephrotic Syndrome, Type 22	Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag...	OMIM:619155
Renal Hypoplasia	Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome...	ORPHA:93101
C3 Glomerulopathy	Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid...	ORPHA:329918
Nephronophthisis 3	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:604387
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome	OMIM:614650
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy	ORPHA:419
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve...	OMIM:607665
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros...	OMIM:256370
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne...	OMIM:613496
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Glomerulopathy With Fibronectin Deposits 1	Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat...	OMIM:137950
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ...	OMIM:616892
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins...	OMIM:601331
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, Peritonitis, ...	ORPHA:567548
Hypercalcemia, Infantile, 2	Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci...	OMIM:616963
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa...	OMIM:618913
Oligomeganephronia	Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor...	ORPHA:2260
Type 1 Diabetes Mellitus	Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia	OMIM:222100
Primary Membranoproliferative Glomerulonephritis	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic...	ORPHA:54370
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ...	ORPHA:656
Nephrotic Syndrome, Type 11	Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep...	OMIM:616730
Hyperuricemic Nephropathy, Familial Juvenile, 3	Renal insufficiency, Nephropathy	OMIM:614227
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy	OMIM:602114
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn...	OMIM:301006
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular...	OMIM:256300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Renal cyst, Gout, Hyperuricemia, Nephropathy, Chronic kidney ...	OMIM:617056
Galloway-Mowat Syndrome 5	Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:617731
C1Q Deficiency	Membranoproliferative glomerulonephritis	OMIM:613652
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o...	OMIM:602088
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease	OMIM:617610
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Renal Glucosuria	Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Dent Disease	Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph...	ORPHA:1652
Alport Syndrome	Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros...	ORPHA:63
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:613944
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency	ORPHA:2613
Galloway-Mowat Syndrome 4	Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler...	OMIM:617730
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D...	OMIM:615244
Diabetes Insipidus, Neurohypophyseal, X-Linked	Polydipsia, Hydronephrosis, Polyuria, Hypokalemia	OMIM:304900
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst, Abnormality of the kidney	OMIM:615987
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu...	OMIM:616818
Hypomagnesemia 3, Renal	Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit...	OMIM:248250
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Hereditary Renal Hypouricemia	Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D...	ORPHA:94088
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur...	OMIM:104200
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:136680
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Autosomal Dominant Polycystic Kidney Disease	Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta...	ORPHA:730
Marfanoid Habitus With Microcephaly And Glomerulonephritis	Glomerulonephritis, Renal insufficiency	OMIM:248760
Glomerulopathy With Fibronectin Deposits 2	Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ...	OMIM:601894
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Pneumonia	OMIM:247800
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub...	OMIM:602522
Spastic Paraplegia-Nephritis-Deafness Syndrome	Proteinuria, Nephropathy	ORPHA:2820
Cystinuria	Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper...	OMIM:220100
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Hyperalaninemia	OMIM:618250
Ochoa Syndrome	Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete...	ORPHA:2704
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra...	OMIM:614376
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dyspl...	OMIM:263200
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
Senior-Loken Syndrome 3	Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure...	OMIM:606995
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Hyperuricemi...	ORPHA:79233
Galloway-Mowat Syndrome 7	Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri...	OMIM:618348
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Proteinuria, Chronic Benign	Albuminuria, Proteinuria	OMIM:618884
Galactosemia I	Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased level of gala...	OMIM:230400
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine...	ORPHA:84090
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
Nephronophthisis 11	Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni...	OMIM:613550
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia	OMIM:609886
Bardet-Biedl Syndrome 16	Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Renal insufficiency, Abnorma...	OMIM:615993
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep...	ORPHA:85450
Nephrotic Syndrome, Type 16	Hematuria, Proteinuria, Nephrotic syndrome	OMIM:617783
Nephrotic Syndrome, Type 14	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni...	OMIM:617575
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:161950
Camos Syndrome	Renal insufficiency, Nephrotic syndrome	ORPHA:83472
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria	OMIM:143880
Renal Hypodysplasia/Aplasia 3	Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ...	OMIM:617805
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency	OMIM:162000
Pauci-Immune Glomerulonephritis	Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat...	ORPHA:93126
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux	OMIM:618270
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, Arthritis, ...	OMIM:616414
Complement Factor H Deficiency	Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel...	OMIM:609814
Congenital Anomalies Of Kidney And Urinary Tract 2	Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong...	OMIM:143400
Urofacial Syndrome 2	Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure...	OMIM:615112
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Nephronophthisis 18	Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis...	OMIM:615862
Congenital Megacalycosis	Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol...	ORPHA:93109
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Retinitis Pigmentosa 59	Micropenis, Renal insufficiency	OMIM:613861
Preeclampsia	Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Prote...	ORPHA:275555
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot...	ORPHA:347
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis	OMIM:236110
Cystinosis	Renal tubular dysfunction, Hypokalemia, Polydipsia, Hypophosphatemia, Nephropathy, Aminoaciduria,...	ORPHA:213
Bardet-Biedl Syndrome 18	Renal insufficiency	OMIM:615995
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Proteinuria	ORPHA:2134
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ...	OMIM:613845
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp...	ORPHA:567546
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Polydipsia, Abnormal urine sodi...	ORPHA:320
Nephronophthisis 13	Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea...	OMIM:614377
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome	OMIM:249660
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,...	ORPHA:439232
Nephrogenic Diabetes Insipidus	Hypernatremia, Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter,...	ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Megacystis, Polyuria, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Megacystis, Polyuria, Hypernatremia	OMIM:304800
Dent Disease 2	Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop...	OMIM:300555
Coenzyme Q10 Deficiency, Primary, 1	Elevated circulating creatine kinase concentration, Recurrent myoglobinuria, Glomerular sclerosis...	OMIM:607426
Coach Syndrome 3	Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth...	OMIM:619113
Juvenile Nephropathic Cystinosis	Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Polydipsia,...	ORPHA:411634
Paternal Uniparental Disomy Of Chromosome 1	Macroscopic hematuria, Hypercalcemia, Polyphagia, Increased blood urea nitrogen, Membranoprolifer...	ORPHA:251004
Central Diabetes Insipidus	Hyponatremia, Nocturia, Polydipsia	ORPHA:178029
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy	OMIM:242530
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Nephrotic Syndrome, Type 21	Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro...	OMIM:618594
Senior-Boichis Syndrome	Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem...	ORPHA:84081
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne...	ORPHA:411536
Bardet-Biedl Syndrome 17	Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria	OMIM:615994
Adenine Phosphoribosyltransferase Deficiency	Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch...	ORPHA:976
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Renal cortical cysts	OMIM:617668
Thrombotic Thrombocytopenic Purpura	Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency	ORPHA:54057
East Syndrome	Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypomagnesemia, ...	ORPHA:199343
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Hyperphosphatemia, Polyuria, And Seizures	Polyuria, Hyperphosphatemia	OMIM:239350
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con...	ORPHA:449395
Hypomagnesemia, Seizures, And Mental Retardation 2	Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting	OMIM:618314
Nephronophthisis	Renal insufficiency	ORPHA:655
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia	OMIM:245900
Teratoma, Pineal	Polyuria, Polydipsia	OMIM:273120
Nephronophthisis 16	Nephronophthisis, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal insufficiency, Enl...	OMIM:615382
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency	ORPHA:225
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot...	ORPHA:839
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin...	OMIM:300971
Cryoglobulinemia, Familial Mixed	Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn...	OMIM:123550
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria	OMIM:619428
Helix Syndrome	Hypokalemia, Polydipsia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insuffi...	OMIM:617671
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, H...	OMIM:612780
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy	ORPHA:1909
Bardet-Biedl Syndrome 9	Polydipsia, Renal insufficiency, Polyphagia	OMIM:615986
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra...	ORPHA:228302
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Nephrolithiasis	OMIM:614723
Actinic Prurigo	Cheilitis, Glomerulonephritis, Pyoderma	OMIM:174770
Glycogen Storage Disease Xi	Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena...	OMIM:612933
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro...	ORPHA:49041
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hypokalemia, Decreased circulating renin level, Hypercalciuria, Polyuria	OMIM:613677
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d...	OMIM:616733
Autoimmune Lymphoproliferative Syndrome, Type Iii	Nephrotic syndrome, Membranous nephropathy, Recurrent otitis media, Stage 5 chronic kidney diseas...	OMIM:615559
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ...	OMIM:613095
Multiple Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu...	OMIM:231680
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Renal cyst	OMIM:138790
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency	ORPHA:2668
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ...	OMIM:220150
Distal Renal Tubular Acidosis	Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Polydipsia, Proximal tubulopathy...	ORPHA:18
Myoglobinuria, Autosomal Dominant	Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria	OMIM:160010
Glycogen Storage Disease X	Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency	OMIM:261670
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hematuria, Skin rash, Nephropathy, Proteinuria	OMIM:105200
Nephrosialidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome	OMIM:256150
Systemic Lupus Erythematosus	Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash	OMIM:152700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car...	ORPHA:93111
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Gout, N...	OMIM:232200
Medullary cystic kidney disease 2	Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ...	OMIM:603860
Complement Factor I Deficiency	Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,...	OMIM:610984
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Polydipsia, Hypophosphatemia, Hyperc...	OMIM:239200
Immunodeficiency 91 And Hyperinflammation	Nephrotic syndrome, Hemolytic-uremic syndrome, Recurrent pneumonia, Maculopapular exanthema, Memb...	OMIM:619644
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Gout, Hyperuricemia	ORPHA:510
Joubert Syndrome 4	Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency	OMIM:609583
Galloway-Mowat Syndrome 10	Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Polydipsia, Ab...	ORPHA:411629
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis	OMIM:232500
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H...	ORPHA:47159
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Serositis, Malar ras...	ORPHA:231111
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro...	OMIM:274150
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Gout, N...	OMIM:232220
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena...	ORPHA:2364
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia, Nephrotic syndrome	OMIM:618999
Lcat Deficiency	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki...	ORPHA:650
Hereditary Xanthinuria	Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa...	ORPHA:3467
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Renal insufficiency, Nephropathy	OMIM:166300
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary no...	ORPHA:276621
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Rhyns Syndrome	Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Thyroiditis	OMIM:619375
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp...	OMIM:613090
Tyrosinemia, Type I	Renal Fanconi syndrome, Hypophosphatemic rickets, Nephrocalcinosis, Hypertyrosinemia, Glomerular ...	OMIM:276700
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm...	ORPHA:85445
Acrorenal Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology	ORPHA:971
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, ...	ORPHA:411543
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Patent ductus arteriosus	OMIM:617661
Gitelman Syndrome	Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Hypomagnesemia, Renal potassium wasting, En...	OMIM:263800
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
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis	ORPHA:33111
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnorm...	ORPHA:261222
Familial Mediterranean Fever, Autosomal Dominant	Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis	OMIM:134610
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I...	OMIM:223900
Systemic Sclerosis	Myocarditis, Dysphagia, Pericarditis, Elevated circulating creatine kinase concentration, Arthrit...	ORPHA:90291
Uremic Pruritus	Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk...	ORPHA:94059
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Nephrolithiasis, Hypokalemia	ORPHA:369929
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Elevated circulating creatinine concentration, Glomerular sclerosis, Skin rash, Nephro...	ORPHA:247691
Anti-Glomerular Basement Membrane Disease	Hematuria, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:375
Hyperuricemia, Hprt-Related	Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria, Renal insufficiency	OMIM:300323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,...	OMIM:235400
Hinman Syndrome	Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff...	ORPHA:84085
Denys-Drash Syndrome	Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:220
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease	ORPHA:3156
Al Amyloidosis	Dysphagia, Nephrotic syndrome, Renal interstitial amyloid deposits, Increased circulating NT-proB...	ORPHA:85443
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Denys-Drash Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat...	OMIM:194080
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur...	OMIM:134600
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron...	OMIM:203780
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria	OMIM:616026
Aicardi-Goutieres Syndrome 9	Pericarditis, Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infec...	OMIM:619487
Xanthinuria, Type Ii	Hypouricemia, Renal insufficiency, Nephrolithiasis	OMIM:603592
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:268200
Galloway-Mowat Syndrome 3	Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Hypoalbuminemia, Diffus...	OMIM:617729
Familial Hyperaldosteronism Type Iii	Polydipsia, Hypercalciuria, Hypokalemia	ORPHA:251274
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Renal Tubular Dysgenesis	Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy	ORPHA:3033
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Hyperlipidemia, Hematuria, Decreased glomerular filtration ra...	OMIM:232240
Combined Oxidative Phosphorylation Deficiency 52	Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Pancreatitis...	OMIM:619386
Bardet-Biedl Syndrome 19	Renal insufficiency	OMIM:615996
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency	OMIM:204690
Malaria	Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re...	OMIM:613388
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:28
Bartter Syndrome, Type 3	Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast...	OMIM:607364
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased total bilirubin	ORPHA:890
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Nephrotic syndrome	OMIM:242900
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat...	ORPHA:99880
Cystinosis, Nephropathic	Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Dysphagia, Polydipsia, Oral-phar...	OMIM:219800
Combined Oxidative Phosphorylation Deficiency 24	Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis	OMIM:616239
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasis, Renal insufficiency	OMIM:300661
Alagille Syndrome 2	Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency	OMIM:610205
Acrorenal Syndrome, Autosomal Recessive	Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency	OMIM:201310
Arima Syndrome	Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena...	OMIM:243910
Bartter Syndrome, Type 2, Antenatal	Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prostaglandin E2, Hyp...	OMIM:241200
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Hypoalbuminemia	OMIM:618347
Amyloidosis, Finnish Type	Renal insufficiency, Nephrotic syndrome	OMIM:105120
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Patent ...	OMIM:617303
Joubert Syndrome 5	Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid...	OMIM:610188
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Hyperlipidemia, Nephrocalcinosis, Tubulointerstitial fibrosi...	ORPHA:79259
Parathyroid Carcinoma	Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat...	ORPHA:143
Renal Dysplasia	Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin...	ORPHA:93108
Renal Cysts And Diabetes Syndrome	Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol...	OMIM:137920
Lysinuric Protein Intolerance	Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem...	ORPHA:470
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Hypervitaminosis A, Susceptibility To	Hypercalcemia, Renal insufficiency	OMIM:240150
Bacterial Toxic-Shock Syndrome	Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated circulating cre...	ORPHA:36234
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosi...	ORPHA:29072
Fechtner syndrome	Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:153640
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Dent Disease 1	Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr...	OMIM:300009
Nephronophthisis-Like Nephropathy 1	Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ...	OMIM:613159
Liddle Syndrome	Hypokalemia, Renal insufficiency, Nephropathy	ORPHA:526
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231580
Joubert Syndrome 15	Nephronophthisis, Micropenis	OMIM:614464
Schimke Immuno-Osseous Dysplasia	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidemia, Stage 5 ch...	ORPHA:1830
Glycogen Storage Disease V	Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine	OMIM:232600
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia	ORPHA:214
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal...	OMIM:260000
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Familial Isolated Hyperparathyroidism	Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy...	ORPHA:99879
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Patent duc...	OMIM:214100
Imerslund-Grasbeck Syndrome 1	Proteinuria	OMIM:261100
Bartter Syndrome, Type 1, Antenatal	Hypercalcemia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prosta...	OMIM:601678
Harrod Syndrome	Hypospadias, Renal cortical microcysts	OMIM:601095
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria	OMIM:560000
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Nephrotic syndrome, Nephropathy	ORPHA:1192
Leiomyomatosis, Diffuse, With Alport Syndrome	Glomerular basement membrane lamellation, Dysphagia, Abnormal renal physiology, Hematuria, Stage ...	OMIM:308940
Simple Cryoglobulinemia	Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hypercellularity, Microscopic h...	ORPHA:91139
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Patent ductus arteriosus, Hyperechogenic kidney...	OMIM:618719
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Epidermolysis Bullosa Simplex With Pyloric Atresia	Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Eleva...	ORPHA:158684
Primary Hyperoxaluria Type 2	Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i...	ORPHA:93599
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolif...	OMIM:137940
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Renal Coloboma Syndrome	Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins...	ORPHA:1475
Acquired Ichthyosis	Recurrent skin infections, Renal insufficiency	ORPHA:454
Jeune Syndrome	Nephronophthisis, Renal insufficiency, Nephropathy	ORPHA:474
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Renal agenesis	OMIM:212780
Nephronophthisis 19	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:616217
Hypophosphatemic Rickets, X-Linked Recessive	Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin...	OMIM:300554
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Highly elevated creatine kinase, Dysphagia, Elevated circulating creatine kinase concentration, E...	ORPHA:368
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Renal cortical microcysts	OMIM:614866
Posterior Urethral Valve	Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat...	ORPHA:93110
Autoimmune Hepatitis	Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Increased total...	ORPHA:2137
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Hypercalcemia, Renal insufficiency, Patent ductus arteriosus	ORPHA:2123
Gitelman Syndrome	Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Hypokal...	ORPHA:358
Papillorenal Syndrome	Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron...	OMIM:120330
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,...	ORPHA:340
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Hematuria, Renal cyst, Nephropathy	OMIM:611773
Glycogen Storage Disease, Type Ixd	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Myositis, Exercise-induced myoglobinuria, Dark uri...	ORPHA:99845
Senior-Loken Syndrome 9	Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease	OMIM:616629
Meier-Gorlin Syndrome 8	Renal hypoplasia	OMIM:617564
Myh9-Related Disease	Renal insufficiency, Nephritis, Proteinuria, Nephropathy	ORPHA:182050
Deafness And Myopia	Hematuria, Proteinuria	OMIM:221200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney	OMIM:613730
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena...	ORPHA:255249
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Renal hypoplasia, Renal cyst	OMIM:228940
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level	OMIM:300539
Xfe Progeroid Syndrome	Proteinuria, Renal insufficiency	OMIM:610965
Muckle-Wells Syndrome	Maculopapular exanthema, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein c...	OMIM:191900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:289916
C Syndrome	Renal cortical cysts, Patent ductus arteriosus	OMIM:211750
Wilson Disease	Hyperphosphaturia, High nonceruloplasmin-bound serum copper, Renal tubular dysfunction, Dysphagia...	OMIM:277900
Relapsing Fever	Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Incr...	ORPHA:91547
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Senior-Loken Syndrome 8	Nephronophthisis, Hepatic cysts, Pancreatic cysts	OMIM:616307
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro...	OMIM:146255
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Hyperlipidemia	ORPHA:369
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias	ORPHA:1692
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangitis, Polydipsia, Stage 5 chronic kidney disease, Recurrent urinary tract in...	ORPHA:731
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ...	OMIM:191800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Erythroderma, Hepatitis, Arthritis, Glomerulonephritis	OMIM:304790
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria	OMIM:615605
Pierson Syndrome	Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,...	OMIM:609049
Erdheim-Chester Disease	Hydronephrosis, Polydipsia, Dysuria, Osteomyelitis, Skin rash, Renal insufficiency	ORPHA:35687
Hyperprolinemia Type 2	Prolinuria, Dysphagia, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hype...	ORPHA:79101
Birk-Landau-Perez Syndrome	Hyperechogenic kidneys, Hyperkalemia, Tubulointerstitial nephritis, Renal insufficiency	OMIM:617595
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul...	OMIM:614748
Lymphatic Filariasis	Nephrotic syndrome, Lymphadenitis, Hematuria, Urethral obstruction, Knee osteoarthritis, Epididym...	ORPHA:2035
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivasc...	ORPHA:284426
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis	ORPHA:99931
Microcephaly 20, Primary, Autosomal Recessive	Hyperechogenic kidneys, Renal hypoplasia	OMIM:617914
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Nail-Patella Syndrome	Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency	OMIM:161200
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Elevated circulating creatinine concentration	ORPHA:90060
Dopamine Beta-Hydroxylase Deficiency	Rhinitis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ...	ORPHA:230
Paroxysmal Nocturnal Hemoglobinuria	Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi...	ORPHA:447
Laurence-Moon Syndrome	Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency	ORPHA:2377
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Mucopolysacchariduria, Proteinuria, Nephrotic syndrome	OMIM:215250
Car T Cell Therapy-Associated Cytokine Release Syndrome	Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Increa...	ORPHA:542323
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Carnitine Palmitoyltransferase Ii Deficiency	Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit...	ORPHA:157
Alport Syndrome 1, X-Linked	Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d...	OMIM:301050
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise	ORPHA:57
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Tubulointerstitial fibrosis, Recurrent otitis media, Rheumatoid arthritis, Juvenile rh...	OMIM:607944
Ohdo Syndrome	Proteinuria	OMIM:249620
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis	OMIM:618161
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypoalbuminemia, Diffuse mesangial sclero...	OMIM:251300
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi...	OMIM:618183
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Bacterial endocarditis, Elevated circulating C-reactive pro...	ORPHA:48435
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Hematuria, Arthritis, Glomerulopathy, Viral hepatitis, Proteinuria, R...	ORPHA:91138
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia	ORPHA:79327
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:35710
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Proteinuria, Renal insufficiency	ORPHA:1307
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Abnormal ...	ORPHA:37042
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit...	ORPHA:228308
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Increased circulating ferritin concentration, Proteinuria, Elevated circula...	OMIM:614034
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hypospadias, Renal cortical cysts, Meningocele, Renal dysplasia, Hyperechogenic kidneys, Renal in...	ORPHA:397715
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Toxic Epidermal Necrolysis	Dysphagia, Polydipsia, Dysuria, Pancreatitis, Abnormality of the urethra, Renal insufficiency, Co...	ORPHA:537
Beckwith-Wiedemann Syndrome	Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Acute kidney injury, Proteinuria	OMIM:618886
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency	OMIM:614922
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp...	OMIM:248190
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Becker Muscular Dystrophy	Elevated circulating creatine kinase concentration, Myoglobinuria, Abnormal urinary color	ORPHA:98895
Rabson-Mendenhall Syndrome	Hypokalemia, Polydipsia, Long penis, Nephrocalcinosis, Increased C-peptide level	ORPHA:769
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Proteinuria	ORPHA:69126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:79312
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Renal cortical cysts, Vesicoureteral reflux	OMIM:618548
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease, Gout	OMIM:618061
Panhypophysitis	Hyponatremia, Hashimoto thyroiditis, Hyposthenuria, Polydipsia	ORPHA:95513
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Goodpasture Syndrome	Macroscopic hematuria, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylindruria, Glome...	OMIM:233450
Wolfram Syndrome	Polydipsia, Abnormality of the urinary system, Dysuria, Recurrent urinary tract infections, Nephr...	ORPHA:3463
Mu-Heavy Chain Disease	Bence Jones Proteinuria, Nephropathy	ORPHA:100024
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Thymoma	Glomerulonephritis, Rheumatoid arthritis, Ulcerative colitis, Myositis	ORPHA:99867
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i...	OMIM:600740
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia	ORPHA:3157
Cystic Echinococcosis	Membranous nephropathy, Renal cyst, Hyperbilirubinemia	ORPHA:400
Prune Belly Syndrome	Abnormality of the ureter, Congenital posterior urethral valve, Patent ductus arteriosus, Urogeni...	ORPHA:2970
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:27
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Nephronophthisis, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease, Nephropathy	OMIM:266920
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate...	ORPHA:488627
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Abnormality of the upper urinary tra...	ORPHA:99885
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Proteinuria, Renal artery stenosis, Nephropathy	OMIM:209010
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Xanthinuria, Type I	Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria	OMIM:278300
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ...	ORPHA:3337
Joubert Syndrome 7	Nephronophthisis, Renal cyst	OMIM:611560
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Familial Cold Urticaria	Arthritis, Polydipsia, Conjunctivitis	ORPHA:47045
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys...	ORPHA:93598
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Cockayne Syndrome Type 1	Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency, Conjunctivitis	ORPHA:90321
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Nephropathy	ORPHA:2774
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hematuria, Arthritis, Uveitis, Inflammatory abnormality of the eye, Skin rash, Glom...	ORPHA:36412
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Stage 5 chronic kid...	OMIM:251000
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Highly elevated creatine kinase, Exercise-induced myoglobinuria	ORPHA:352479
Renal Agenesis	Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U...	ORPHA:411709
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Cocaine Intoxication	Tubulointerstitial nephritis, Colitis, Elevated circulating creatine kinase concentration, Hematu...	ORPHA:90068
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a...	OMIM:277400
Joubert Syndrome 20	Renal cyst	OMIM:614970
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dysphagia, Urinary bladder sphincter dysfunction, IgA deposition in the glomerulus, Abnormality o...	ORPHA:79408
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub...	OMIM:211900
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Peritonitis, Anuria, ...	ORPHA:90038
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Renal cyst	OMIM:615583
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Hypertrophy of the urinary bladder, Renal hypoplasia, Urethral obstruction, Renal dysplasia	OMIM:601389
Glycogen Storage Disease Vii	Gout, Exercise-induced myoglobinuria, Hyperuricemia, Increased total bilirubin	OMIM:232800
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Alagille Syndrome 1	Renal hypoplasia, Focal segmental glomerulosclerosis, Renal tubular acidosis, Renal dysplasia, Mu...	OMIM:118450
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Hypoplasia of penis, Renal insufficiency, Renal hypoplasia	ORPHA:85321
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Nephrolithiasis, Calcium Oxalate	Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy	ORPHA:330001
Pediatric Systemic Lupus Erythematosus	Nephrotic syndrome, Myositis, Abnormality of the urinary system, Hematuria, Nephritis, Discoid lu...	ORPHA:93552
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Myoglobinuria	ORPHA:119
Legionnaires Disease	Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hematuria, Hepati...	ORPHA:549
Axial Osteomalacia	Renal cyst	OMIM:109130
Congenital Disorder Of Glycosylation, Type Iig	Hypospadias, Hydronephrosis, Renal insufficiency	OMIM:611209
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Biliary Malformation With Renal Tubular Insufficiency	Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Conjugated hyperbilirubinemia, ...	OMIM:210550
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ...	OMIM:220110
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuri...	ORPHA:183
Tubulointerstitial Nephritis And Uveitis Syndrome	Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Mild p...	ORPHA:91500
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy	OMIM:194072
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ...	ORPHA:436271
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Patent ductus arteriosus, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:86818
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Majeed Syndrome	Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Acne, O...	ORPHA:77297
Primary Hyperoxaluria Type 3	Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H...	ORPHA:93600
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness

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