Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nephrosis 2, podocin
Synonyms:
podocin

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 Nphs2 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 Nphs2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995

The table below shows human diseases predicted to be associated to Nphs2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
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 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
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
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc... OMIM:256300
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease... OMIM:603278
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Abnormal glomer... ORPHA:567544
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney... OMIM:617575
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Galloway-Mowat Syndrome 7
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:618348
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... ORPHA:329918
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne... OMIM:608709
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Hypotension, Elevated circulating creatinine conce... OMIM:174000
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Glomerulopathy With Fibronectin Deposits 2
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Renal amyloidosis, Abnormal cardiac ventricular function, Elevate... ORPHA:439232
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Hypertension, Nephroblastoma, Stage 5 chronic ki... OMIM:194080
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease, Hypertrophic cardiomyopathy OMIM:618250
Pierson Syndrome
Hypoproteinemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis,... OMIM:609049
Galactosemia I
Increased level of galactitol in red blood cells, Albuminuria, Increased level of galactitol in p... OMIM:230400
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:617729
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Preeclampsia
Acute kidney injury, Elevated systolic blood pressure, Elevated circulating creatinine concentrat... ORPHA:275555
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glome... OMIM:613496
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Pulmonary e... ORPHA:567546
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Retinitis Pigmentosa 59
Renal insufficiency, Micropenis OMIM:613861
Frasier Syndrome
Focal segmental glomerulosclerosis, Hypertension, Glomerulopathy, Nephroblastoma, Nephrotic syndr... ORPHA:347
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Elevated circulating creatine kinase concentration, Nephrotic syndrome, Rec... OMIM:607426
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Acute kidney injury, Arteritis, Purpura, Nephrotic... ORPHA:93126
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Pulmonary insufficiency, Elevated circulating creatinine conce... OMIM:602088
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Abnormal circulating lipid concentration, Hypertension, Glomerulopathy, ... ORPHA:225
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... OMIM:616733
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Renal insufficiency, Nephritis OMIM:162000
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:276621
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Alport Syndrome
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Tubulointerstitial fibro... ORPHA:63
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Hematuria, Acute kidney injury, Myocardial infarction, Decreased serum creatinine, Re... ORPHA:54057
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:1909
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Hypertension, Membranoproliferative glomeruloneph... ORPHA:251004
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circu... OMIM:223900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Hypertension, ... OMIM:613095
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Renal insufficiency, P... OMIM:245900
Oligomeganephronia
Decreased numbers of nephrons, Elevated circulating creatinine concentration, Unilateral renal ag... ORPHA:2260
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypertension OMIM:618681
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Dif... OMIM:251300
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Nephronophthisis
Renal insufficiency ORPHA:655
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate... OMIM:612933
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Elevated circulating creatinine co... ORPHA:247691
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... ORPHA:49041
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Urinary bladder inflammation, Elevated circulating ... ORPHA:449395
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Systemic Sclerosis
Intestinal bleeding, Acute kidney injury, Albuminuria, Pericarditis, Right ventricular failure, N... ORPHA:90291
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Glomerulopathy, Hypercalcemia, Proteinuria ORPHA:2668
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Tyrosinemia, Type I
Abnormal bleeding, Gastrointestinal hemorrhage, Enlarged kidney, Hypertyrosinemia, Hypophosphatem... OMIM:276700
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Renal insufficiency, Myoglobinuria OMIM:261670
Glycogen Storage Disease Ia
Abnormal bleeding, Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipid... OMIM:232200
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:29072
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Hypertens... OMIM:618913
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis OMIM:616239
Al Amyloidosis
Abnormal EKG, Arrhythmia, Albuminuria, Gastrointestinal hemorrhage, Postural hypotension with com... ORPHA:85443
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Hypertension, Nephropathy, Proteinuria OMIM:166300
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Lcat Deficiency
Hematuria, Atherosclerosis, Hypertension, Hypertriglyceridemia, Renal insufficiency, Proteinuria ORPHA:650
Amyloidosis, Familial Visceral
Hematuria, Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria OMIM:105200
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Senior-Loken Syndrome
Nephronophthisis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:3156
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria, Hyperuricemia ORPHA:510
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Nephropathy, Hypertension, Cerebral artery atherosclerosis, Neph... ORPHA:1192
Nephrosialidosis
Renal insufficiency, Nephropathy, Nephrotic syndrome OMIM:256150
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Pericarditis, Petechiae, Elevated circulating C-reactiv... ORPHA:231111
Cednik Syndrome
Congestive heart failure, Proteinuria, Nephrotic syndrome ORPHA:66631
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate... ORPHA:2364
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypotension, Nephropathy, Chronic kidney... ORPHA:85445
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Hypertension,... OMIM:232220
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hydronephro... OMIM:214100
Anti-Glomerular Basement Membrane Disease
Hematuria, Purpura, Glomerulopathy, Renal insufficiency, Vasculitis, Proteinuria ORPHA:375
Glycogen Storage Disease Ic
Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Hyperuricemia, Hypertension, De... OMIM:232240
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Hypertension, Cerebral ischemia, Nephrotic syndrome, Renal in... OMIM:242900
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis OMIM:300323
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the ... ORPHA:261222
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Hypertension, Renal tubular ac... OMIM:610205
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Abnormal aortic morphology, Hyperuricemia, Hypertension, Renal insufficiency, Cardiom... ORPHA:3222
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Fechtner syndrome
Abnormal bleeding, Hematuria, Prolonged bleeding time, Menorrhagia, Stage 5 chronic kidney diseas... OMIM:153640
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Hy... ORPHA:1830
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Supraventricular arrhythmia, Nephropathy, Renal cyst, Renal insufficiency, Retinal hem... OMIM:611773
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Hyperalaninemia, Elevated circul... OMIM:619386
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Purpura, Anuria, Elevated circulating creatin... OMIM:235400
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Hypertrophic cardiomyopathy, Renal tubular a... OMIM:617303
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenosis, Polycystic kidney dy... OMIM:615382
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Increased urinary... ORPHA:411543
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Cardiomyopathy ORPHA:254857
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Re... OMIM:613388
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Liddle Syndrome
Arrhythmia, Hypertension, Nephropathy, Hypokalemia, Cerebral ischemia, Renal insufficiency ORPHA:526
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Amyloidosis, Finnish Type
Renal insufficiency, Cardiomyopathy, Nephrotic syndrome OMIM:105120
Alport Syndrome 2, Autosomal Recessive
Hematuria, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Stag... OMIM:203780
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Abnormality of the uret... ORPHA:158684
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Abnormal renal morphology, Multiple glomerular cysts, Decreased number... OMIM:137920
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Malaria
Hyperbilirubinemia, Acute kidney injury, Elevated circulating C-reactive protein concentration ORPHA:673
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:618347
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency ORPHA:890
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Dark urine, Myoglobinuria OMIM:232600
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... ORPHA:94059
Cystinuria
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis ORPHA:214
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Renal insufficiency, G... ORPHA:319218
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Nephropathy, Myocardial infarction, Me... ORPHA:182050
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Nephropathy, Cerebral artery atherosclerosis, Renal artery steno... OMIM:209010
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia OMIM:240150
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria OMIM:300661
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy... OMIM:300554
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Relapsing Fever
Increased total bilirubin, Abnormal bleeding, Hematuria, Acute kidney injury, Hypotension, Elevat... ORPHA:91547
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Pulmonary arterial hypertension, Chron... OMIM:613845
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Pulmonary hemorrhage, Crescentic glomerulonephritis, Elevated circula... OMIM:616414
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis, Purpura OMIM:614380
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Xfe Progeroid Syndrome
Renal insufficiency, Hypertension, Proteinuria OMIM:610965
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Orthostatic hypotension, Nocturia, Elev... ORPHA:230
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Abnormal bleeding, Hematuria OMIM:314000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Abnormality of the kidney, Hyperlipidemia, Proteinuria ORPHA:369
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... ORPHA:2704
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polyuria, Recurrent urinary tract infections, H... OMIM:248250
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Orthostatic hypotension, Recurrent urinary tract infections, Vesicoureteral r... OMIM:191800
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Arrhythmia, Cystic renal dysplasia, Renal tubu... ORPHA:157
Laurence-Moon Syndrome
Renal insufficiency, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:2377
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Heart block, Arrhythmia, Cystic renal dysplasi... ORPHA:228308
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Hypertension, Uni... ORPHA:93110
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbuminemia, Nephrotic synd... ORPHA:255249
Megabladder, Congenital
Hyperechogenic kidneys, Fetal megacystis, Stage 5 chronic kidney disease, Left ventricular noncom... OMIM:618719
Goodpasture Syndrome
Erythrocyte cylindruria, Pulmonary hemorrhage, Increased blood urea nitrogen, Cylindruria, Glomer... OMIM:233450
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Purpura, Glomerulopathy, Petechiae, Renal insufficiency, ... ORPHA:91138
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Elevated circulating creatine kinase concentration, Highly eleva... ORPHA:368
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia, Hypertension OMIM:173900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Hyperammonemia ORPHA:289916
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia, Hypercalcemia ORPHA:2123
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Chronic kidney disease OMIM:602152
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Elevated circulating cre... ORPHA:542323
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hypertension, Neonatal death, Absence of renal cort... OMIM:263200
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Recurrent urinary tract... ORPHA:36234
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis OMIM:247800
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Nephropathy, Myocardial infarct... ORPHA:330001
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Hematuria, Thickened glomerular basement membrane, Nephropathy, Glomer... OMIM:308940
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypertension, Decreased circulating renin level, Hypokalemia, Abnormal urine... ORPHA:320
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency, Cardi... OMIM:614922
Complement Factor I Deficiency
Pyelonephritis, Recurrent urinary tract infections, Glomerulonephritis, Renal insufficiency, Vasc... OMIM:610984
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Hypertension, Cerebral hemorrh... OMIM:618886
Cystinosis
Hypophosphatemia, Aminoaciduria, Nephropathy, Hypokalemia, Portal hypertension, Renal insufficien... ORPHA:213
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal tubular atrophy, ... OMIM:614748
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Hyperkal... ORPHA:57
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intra... ORPHA:340
Pheochromocytoma
Elevated urinary norepinephrine, Positive regitine blocking test, Episodic hypertension, Cerebral... OMIM:171300
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, High nonceruloplasmin-bound serum c... OMIM:277900
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Positive regitine blocking test, Episodic hypertension, Cerebral... OMIM:171420
Muckle-Wells Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Renal amyloidosis OMIM:191900
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Membranous nephropathy, Elevated circulating C-reactive prote... OMIM:615559
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia, Cardiomyopathy ORPHA:79312
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Functional abnormality of the bladder, En... ORPHA:223
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Nocturia, Abnormal T-wave, Hypomagnesemia, Syncope, Renal potassiu... ORPHA:358
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Isolated Permanent Neonatal Diabetes Mellitus
Hypovolemia, Moderate albuminuria, Ketonuria, Glycosuria, Abnormality of the upper urinary tract,... ORPHA:99885
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Hypertension, Microscopic hematuria, Glomerular basement ... OMIM:301050
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypercalcemia, Parathormone-independent increas... OMIM:600740
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Aminoaciduria, Subcutaneous hemorrhage, Proteinuria OMIM:603585
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal urinary color, Myoglobinuria ORPHA:98895
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Atherosclerosis,... ORPHA:93598
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral renal age... ORPHA:411709
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Membranoproliferative glomerulonephritis... OMIM:137940
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Hyperbilirubinemia, Myoglobinuria ORPHA:713
Cockayne Syndrome Type 1
Renal insufficiency, Increased blood urea nitrogen, Hypertension, Proteinuria ORPHA:90321
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Antenatal intracerebral hemorrhage, Hyperammonemia, Arrhythmia, Decrea... OMIM:608836
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Elevated circulating creatinine concentration, Renal cyst, Renal insuffi... OMIM:617478
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Babesiosis
Renal insufficiency, Congestive heart failure, Myocardial infarction ORPHA:108
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia, Hyperechogenic kidneys OMIM:617595
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Cardiomyopathy ORPHA:27
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hydronephrosis, Hypospadias OMIM:611209
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Focal segmental glomerulosclerosis, Wolff... ORPHA:550
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Elevated creatine kinase after exercise, Hypercalcemia, Chronic kidney disea... ORPHA:284426
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Supraventricular arrhythmia, Hypovolemia,... ORPHA:90068
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Hypomethioninemia, Methylmal... OMIM:277400
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Intermittent claudication, Hyperoxaluria, Atrioventri... OMIM:259900
Bor Syndrome
Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral reflux, Hydronep... ORPHA:107
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Telangiectasia of the skin, Renal dysplasia, Hypoplasia of penis, Renal insuffi... ORPHA:85321
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Hypertension, Stage 5 chronic kidney d... OMIM:618061
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... OMIM:220110
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hype... OMIM:145600
Neuraminidase Deficiency
Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sial... OMIM:256550
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... ORPHA:436271
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Caudal Regression Sequence
Renal agenesis, Hypertension, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney, R... ORPHA:3027
Fabry Disease
Arrhythmia, Proteinuria, Angina pectoris, Urinary mulberry cells, Hypertension, Myocardial infarc... OMIM:301500
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Acute kidney injury, Intracranial hemorrhage, H... ORPHA:449285
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Cardiomyopathy, Myoglobinuria ORPHA:119
Transcobalamin Deficiency
Methylmalonic aciduria, Acute kidney injury ORPHA:859
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Alagille Syndrome 1
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal hypoplasia, Duplicated collecting... OMIM:118450
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension, Hyperechogenic kidneys OMIM:619111
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Proximal tubulopathy, Hypocholesterolemia, Renal cyst, Hypoalbuminemi... OMIM:212065
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Cerebellar hemorrhage, Tubulointerstitial nephritis, Methylmalonic aciduria, Met... OMIM:251000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Decreased plasma total carnitine, Arrhythmia, Decreased plasma free carnitine, E... ORPHA:228305
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Intermittent claudication, Elevated urine glycolate, ... ORPHA:416
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia OMIM:232800
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Mild proteinuria, Increased serum pyruvate, Hyperalaninemia, Hypospadias, Renal insufficiency OMIM:619147
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:2715
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Hematuria, Purpura, Recurrent intrapulmonary hemorrhage, Glomerulopathy, Hypertension... ORPHA:183
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal agenesis, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Yellow Fever
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Nephropathy, Oliguria, Congestive heart fai... ORPHA:99829
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Renal Nutcracker Syndrome
Hematuria, Orthostatic hypotension, Proteinuria, Microscopic hematuria, Tachycardia, Renal artery... ORPHA:71273
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Renal cyst, Renal insufficiency, Nephrocalcinosis, Cardiomyopathy ORPHA:445038
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:36412
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy OMIM:194072
Legionnaires Disease
Arrhythmia, Hematuria, Pericarditis, Hypotension, Hyponatremia, Myocarditis, Renal insufficiency,... ORPHA:549
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Glycosuria, Abnormal circulating fatty-acid concentration, Tachycardia,... ORPHA:263455
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Hypertension, Proteinuria OMIM:191830
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Horseshoe kidney, Acute kidney injury, Renal agenesis, Hyperuricemia, Multic... ORPHA:93111
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Glycosuria, Renal tubula... OMIM:210550
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Punctate vasculitis skin lesions, Vasculitis in the skin, Retinal hemorrhage, Telangie... OMIM:192315
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Elevated hemoglobin A1c, Tricuspid regurgitation, Hypertrigly... OMIM:619127
Familial Parathyroid Adenoma
Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Calcium ... ORPHA:99877
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Proteinuria, Multiple bladder diverticula ORPHA:2728
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney disease, Nephr... ORPHA:488627
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyponatremia, Hemoglo... ORPHA:90038
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Ethylene Glycol Poisoning
Hypocalcemia, Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosi... ORPHA:31826
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polyuria, Hypokalemia, Renal insufficiency, Nephrolithiasis OMIM:617671
Galactosemia
Renal insufficiency, Increased level of galactitol in plasma, Abnormal bleeding, Hypergalactosemia ORPHA:352
Meningococcal Meningitis
Purpura, Hypotension, Petechiae, Elevated circulating C-reactive protein concentration, Shock, Re... ORPHA:33475
Primary Parathyroid Hyperplasia
Hypophosphatemia, Shortened QT interval, Hypercalciuria, Hypercalcemia, Renal insufficiency, Neph... ORPHA:99878
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cyst, Renal... OMIM:208500
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Dahlberg-Borer-Newcomer Syndrome
Renal insufficiency, Nephropathy, Hypocalcemia ORPHA:1563
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Variant Abeta2M Amyloidosis
Reduced ejection fraction, Chronic kidney disease, Renal amyloidosis ORPHA:314652
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Sudden cardiac death, Dicarboxylic aciduri... OMIM:201475
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Pediatric Systemic Lupus Erythematosus
Hematuria, Dark urine, Abnormality of the urinary system, Nephrotic syndrome, Renal insufficiency... ORPHA:93552
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:86818
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia, Hypertension OMIM:177200
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Nephropathy, Hyperproteinemia... ORPHA:29073
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Dilated cardiomyopathy, Elevated circulating acylcarnitine concentration, Congestive ... OMIM:609015
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Palpitations, Myoglobinuria OMIM:255125
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Hypotension, Oliguria, Myocarditis, R... ORPHA:188
Actinic Prurigo
Glomerulonephritis OMIM:174770
Microscopic Polyangiitis
Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Glomerulopathy, Olig... ORPHA:727
Atresia Of Urethra
Megacystis, Hydroureter, Pulmonary insufficiency, Recurrent urinary tract infections, Renal dyspl... ORPHA:105
Bardet-Biedl Syndrome 9
Renal insufficiency OMIM:615986
Alstrom Syndrome
Hyperuricemia, Atherosclerosis, Hypertension, Hypertriglyceridemia, Tubulointerstitial nephritis,... OMIM:203800
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Granulomatosis With Polyangiitis
Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Purpura, Angina pectoris, Epist... ORPHA:900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Pulmonary arterial hypertension, Heparan sulfate excretion in urine, Tricuspid r... ORPHA:505248
Lymphedema-Hypoparathyroidism Syndrome
Renal insufficiency, Nephropathy OMIM:247410
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Increased circulating free fatty acid level, Abnormal circulating ace... ORPHA:71212
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Abnormal bleeding, Tubulointerstitial fibrosis, Enlarged kidney, Hyperurice... ORPHA:79259
Lymphedema-Distichiasis Syndrome
Arrhythmia, Recurrent urinary tract infections, Glomerulopathy, Tubulointerstitial nephritis, Ren... ORPHA:33001
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Buschke-Ollendorff Syndrome
Renal insufficiency, Abnormal aortic morphology, Hypertension ORPHA:1306
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Acute kidney injury, Hypotension, Hypernatremia, Hyponatremia, Hyperuri... ORPHA:94093
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Renal neutrophi... ORPHA:91500
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypocalciuria, Enuresis, Nephropathy, Renal insufficiency, ... ORPHA:1031
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hematochezia, Cardiomyopathy, Epistaxis, Renal insufficiency, Bruising s... OMIM:203300
Galloway-Mowat Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:2065
17Q12 Microdeletion Syndrome
Renal insufficiency, Renal hypoplasia/aplasia, Ureterocele, Multicystic kidney dysplasia ORPHA:261265
Scrub Typhus
Hypotension, Renal insufficiency, Abnormal bleeding, Myocarditis ORPHA:83317
Nephropathy, Deafness, And Hyperparathyroidism
Renal insufficiency, Nephropathy OMIM:256120
Lymphatic Filariasis
Urethral obstruction, Hematuria, Glomerulonephritis, Nephrotic syndrome, Abnormality of the kidne... ORPHA:2035
Brachymesomelia-Renal Syndrome
Renal insufficiency OMIM:113470
Ohdo Syndrome
Proteinuria OMIM:249620
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Boutonneuse Fever
Renal insufficiency, Petechiae, Vasculitis ORPHA:83313
Acute Intermittent Porphyria
Dysuria, Dark urine, Elevated urinary delta-aminolevulinic acid, Hyponatremia, Hypertension, Urin... ORPHA:79276
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Hypertension, Renal tubular atrophy, Renal corticomedullary cysts, Tubular base... OMIM:613159
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased urinary potass... ORPHA:89938
Majeed Syndrome
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:77297
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Fabry Disease
Conjunctival telangiectasia, Hematuria, Abnormal circulating lipid concentration, Renal insuffici... ORPHA:324
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Vesicoureteral reflux, Micropenis, Coarctation of aorta OMIM:617159
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyponatremia, Chronic kidney disease, Hypoalbuminemia, Renal insufficiency, H... ORPHA:1667
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Shortened QT interval, Hypercalciuria, Renal hamartoma, Renal cyst, Nephroblast... ORPHA:99880
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase... ORPHA:423
Porphyria Variegata
Neurogenic bladder, Porphyrinuria, Hyponatremia, Hypertension, Chronic kidney disease, Abnormal c... ORPHA:79473
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:2237
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Abnormal left ventricular function, Exercise-... OMIM:607155
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Abnormal bleeding, Angina pectoris, Hemoglobinuria, Pulmonary embolism... ORPHA:447
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hyperammonemia, Ventricular tachycardia, Ventricular fibrillation, Elevated c... OMIM:616878
Calciphylaxis
Arterial calcification, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Hellp Syndrome
Acute kidney injury, Internal hemorrhage, Hypotension, Hemoglobinuria, Cerebral hemorrhage, Prolo... ORPHA:244242
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Abnormal bl... ORPHA:411629
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Parathyroid Carcinoma
Hypophosphatemia, Shortened QT interval, Hypercalciuria, Renal hamartoma, Renal cyst, Nephroblast... ORPHA:143
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Elevated amniotic fluid alpha-fetoprotein, Chordee, Renal dysplasia, Hypospa... ORPHA:96179
Feingold Syndrome Type 1
Abnormality of the kidney, Horseshoe kidney, Interrupted aortic arch, Renal dysplasia, Tricuspid ... ORPHA:391641
Kleefstra Syndrome
Arrhythmia, Coarctation of aorta, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Pulmonary ar... ORPHA:261494
Cystinosis, Nephropathic
Decreased plasma carnitine, Generalized aminoaciduria, Hypophosphatemic rickets, Polyuria, Hypona... OMIM:219800
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Chordee, Renal insufficiency, Micropenis, Telangiectasia, Proteinuria OMIM:300519
Refsum Disease
Renal insufficiency, Cardiomyopathy, Heart block ORPHA:773
Pseudo-Torch Syndrome 1
Renal insufficiency, Petechiae OMIM:251290
Lamellar Ichthyosis
Renal insufficiency ORPHA:313
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Hematuria, Acute kidney injury, Abnormal penis morphology, Renal tubular epithelial necr... ORPHA:95455
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Chronic kidney disease, Renal insufficiency ORPHA:469
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol ... OMIM:618885
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Telangiectasia of the skin, Oliguria, Congestive heart failure, Pulmonary ar... ORPHA:220393
Familial Mediterranean Fever
Arrhythmia, Pericarditis, Nephropathy, Myocardial infarction, Nephrotic syndrome, Vasculitis, Nep... ORPHA:342
Immunoglobulin A Vasculitis
Hematuria, Gastrointestinal hemorrhage, Purpura, Glomerulopathy, Renal insufficiency, Bruising su... ORPHA:761
Agel Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Stage 5 chronic kidney disease,... ORPHA:85448
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Renal dysplasia, Ureteral atresia, Aortic valve stenosis, Polycystic kidney dysp... OMIM:208540
Acute Adrenal Insufficiency
Renal insufficiency, Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Hyperuricem... ORPHA:95409
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Abnormal circulating lipid concentration, Hypertension... ORPHA:79086
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperammonemia, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arterial hypertension, Glo... ORPHA:79282
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kid... OMIM:610188
Giant Cell Arteritis
Arrhythmia, Hematuria, Pericarditis, Aortic dissection, Epistaxis, Sudden cardiac death, Cerebral... ORPHA:397
Familial Dysautonomia
Orthostatic hypotension, Hyponatremia, Hypertension, Glomerulopathy, Tachycardia, Renal insuffici... ORPHA:1764
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria ORPHA:1018
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Hypertension, Renal cyst, Stage 5 chronic kidney dis... OMIM:216360
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Vesicoureteral reflux, Coarctation of aorta, Renal i... ORPHA:96147
Cranioectodermal Dysplasia 4
Nephropathy, Stage 5 chronic kidney disease OMIM:614378
Nail-Patella Syndrome
Abnormality of the kidney, Hematuria, Thickened glomerular basement membrane, Stage 5 chronic kid... ORPHA:2614
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Elevated circulating creatine kinase concentration, Cardiomyopathy, Myoglobinuria ORPHA:206549
Mercury Poisoning
Acute kidney injury, Hypotension, Hypertension, Hypokalemia, Tachycardia ORPHA:330021
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease OMIM:618821
Hand-Foot-Genital Syndrome
Renal insufficiency, Pyelonephritis, Chordee, Ureteropelvic junction obstruction, Vesicoureteral ... OMIM:140000
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Joubert Syndrome With Oculorenal Defect