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Gene: Magi2 MGI:1354953

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Gene Summary

Name:
membrane associated guanylate kinase, WW and PDZ domain containing 2
Synonyms:
Acvrinp1,  S-SCAM,  Magi-2

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased body weight Magi2tm1Grnt HET Early adult 2.19×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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.

Legacy Phenotype Associated Images
Magi2tm1Grnt
head, HET, Male, WTSI
Magi2tm1Grnt
HET, Female, WTSI
Magi2tm1Grnt
forearm, HET, Female, WTSI
Magi2tm1Grnt
body, WT, Female, WTSI
Magi2tm1Grnt
head, WT, Female, WTSI

View all 175 images

Magi2tm1Grnt
eye, HET, Female, WTSI
Magi2tm1Grnt
eye, HET, Male, WTSI
Magi2tm1Grnt
abnormal nail morphology, HET, Male, WTSI

Human diseases caused by Magi2 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 Magi2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609

The table below shows human diseases predicted to be associated to Magi2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... OMIM:618176
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... OMIM:615573
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Short stature, Hyposthenuria, Glycosuria,... OMIM:308990
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Diffuse me... OMIM:256300
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra... OMIM:607665
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Short stature, Proteinuria, Stage 5 chronic kidn... OMIM:617730
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... OMIM:603278
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Short stature, Eczema, Ig... OMIM:618348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... OMIM:619155
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Short stature, Proteinuria, Glomerular sclerosis, Intrauterine growth retarda... OMIM:301006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Short stature, Nephropathy, Gout, Focal segmental glomerulosclerosis, Ren... OMIM:617056
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Elevated circulating creatinine ... OMIM:614376
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Pauci-Immune Glomerulonephritis
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... ORPHA:93126
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinur... OMIM:618347
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Gout, Tubulointerstitial nephritis, Multiple small m... OMIM:603860
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Azotemia, Familial
Azotemia OMIM:109160
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... OMIM:608709
Nail-Patella-Like Renal Disease
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:2613
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomer... OMIM:617006
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Re... ORPHA:54370
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent pneumonia, Renal insuffic... OMIM:613779
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Hypoalbumin... ORPHA:255249
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Growth delay, Ren... OMIM:606966
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... OMIM:611555
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Retinitis Pigmentosa 59
Intrauterine growth retardation, Renal insufficiency, Micropenis OMIM:613861
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease OMIM:619603
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu... OMIM:615993
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Hypoalbuminemi... ORPHA:84090
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal hypop... OMIM:617595
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Short stature, Hypoalbuminemia, Proteinuria, Int... OMIM:617729
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Glomerular sclerosis OMIM:619428
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... ORPHA:439232
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... ORPHA:567546
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... OMIM:194080
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... ORPHA:157
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Galactosemia I
Increased level of galactitol in urine, Increased level of galactitol in red blood cells, Aminoac... OMIM:230400
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... ORPHA:275555
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Tubulointerstitial nephrit... OMIM:251000
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... ORPHA:228308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Abnormal renal corticomedullary differentiation, Elevated circulating creatinine... OMIM:616733
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Decreased glomerular filtration rate, Renal tubular atrophy, Nephropathy, Gout, Renal ... OMIM:162000
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... OMIM:609814
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... OMIM:300555
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Short statur... OMIM:232200
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Elevated circulating creatine kinase concentration, ... OMIM:607426
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Short stature, Macroscopic hematuria, Membranoproliferative glomer... ORPHA:251004
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... ORPHA:79233
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... OMIM:263200
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy, Abnormal circulating lipid concentration ORPHA:225
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:223900
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis OMIM:614582
Glycogen Storage Disease V
Dark urine, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperuricemia OMIM:232600
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... ORPHA:470
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Short statur... OMIM:232220
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Nephronophthisis
Renal insufficiency ORPHA:655
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Diffuse mesangial sclerosis, Short stature, Focal segmental glomerulosclerosi... OMIM:251300
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria OMIM:245900
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, St... OMIM:616307
Alstrom Syndrome
Chronic active hepatitis, Nephritis, Otitis media, Short stature, Decreased HDL cholesterol conce... OMIM:203800
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Short stature, Conjugated hyperbilirubinemia, Proteinuria, Increased serum bi... OMIM:620010
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Olig... ORPHA:340
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Gout, Foca... OMIM:232240
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalcemia, Elevated urinary epinephrine, E... ORPHA:276621
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Aicardi-Goutieres Syndrome 9
Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Chilblains, Thickened glo... OMIM:619487
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Skin rash, Endocarditis, Hematuria, Myocarditis, Arthritis, Myositis, Tubulointerstiti... ORPHA:183
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Proteinuria, Growt... OMIM:619858
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Arthritis, Stage 4 chronic kidney disease, Acute kidney injury, Hy... ORPHA:411536
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Tubulointerstitial... ORPHA:139402
Glycogen Storage Disease Xi
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... OMIM:612933
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Recurrent urinary tract infections, Renal duplication, Tubulointerstit... ORPHA:33001
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Pneumonia, Gl... ORPHA:247691
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Nephrotic syndrome, Eczematoid dermatit... ORPHA:37042
Summitt Syndrome
Obesity OMIM:272350
Glycogen Storage Disease X
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:261670
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Lead Poisoning
Renal tubular dysfunction, Chronic kidney disease, Increased LDL cholesterol concentration, Skin ... ORPHA:330015
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Duplication Of Urethra
Dysuria, Chordee, Epispadias, Distal urethral duplication, Bladder duplication, Micropenis, Hypos... ORPHA:237
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration OMIM:616239
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency OMIM:256150
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia OMIM:300539
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Short stature ORPHA:459061
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Schimke Immuno-Osseous Dysplasia
Intrauterine growth retardation, Hyperlipidemia, Pancreatitis, Nephrotic range proteinuria, Short... ORPHA:1830
Cednik Syndrome
Nephrotic syndrome, Proteinuria, Short stature ORPHA:66631
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Senior-Loken Syndrome
Chronic kidney disease, Short stature, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Nephropathy, Hematuria, Proteinuria OMIM:105200
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Systemic Sclerosis
Chronic kidney disease, Osteomyelitis, Recurrent skin infections, Abnormality of the kidney, Elev... ORPHA:90291
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria, Hyperuricemia ORPHA:510
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Thyroiditis, Periodontitis, Hyperlipidemia, Pancreatitis, Enterocolitis, Short s... ORPHA:79259
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... OMIM:120330
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Elevated circulating C-reactive protein concentration, D... ORPHA:91500
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Hypercalcemia, Elevated ... ORPHA:29072
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ve... ORPHA:261222
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Hereditary Xanthinuria
Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infections, Xanthinuria, Hyperxanthin... ORPHA:3467
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Enlarged kidney, Focal segmental glomerulos... OMIM:617303
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... ORPHA:2364
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Glycosuri... OMIM:134600
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Disproportionate short-trunk short stature, Focal segmental glomerulosclerosi... OMIM:242900
Pierson Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Hypoproteinemia, Hyperechogenic kidneys, Protein... OMIM:609049
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:375
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Increased cir... ORPHA:85443
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Short stature, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal ins... OMIM:613388
Uremic Pruritus
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... ORPHA:94059
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... ORPHA:85445
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Aminoaciduria, Pancreatitis, Elevated circulating creatine kinase concentration, ... OMIM:619386
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Gout, Arthritis, Renal insufficiency, Hyperuricemia, Acute kidney ... ORPHA:411543
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:203780
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Nocturia, Gout, Focal segmenta... ORPHA:358
Tyrosinemia, Type I
Hypophosphatemic rickets, Elevated alpha-fetoprotein, Elevated urinary delta-aminolevulinic acid,... OMIM:276700
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... OMIM:613095
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hemoglobinuria, Elevated circulating creatinine concentration, Unconjugated hyperbil... ORPHA:90038
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Podagra OMIM:300323
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Short stature ORPHA:1192
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency ORPHA:890
Cocaine Intoxication
Colitis, Elevated circulating creatine kinase concentration, Hematuria, Tubulointerstitial nephri... ORPHA:90068
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Short stature, Abnormality of the kidney, Proteinuria, Delayed puberty, Growth delay ORPHA:369
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Short stature, Glycosuria, Proteinuria, Hyperphosphaturia, Nephr... OMIM:616026
Arima Syndrome
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Polycystic kidney dysplasia... OMIM:243910
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Conjugated ... OMIM:613404
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:220
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis, Short stature ORPHA:474
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, G... OMIM:137920
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Acute kidney inju... ORPHA:99845
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... ORPHA:93110
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... OMIM:610984
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Cholangitis OMIM:124000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Diffuse mesangial sclerosis, Skin rash, Chronic ... OMIM:102700
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Duplicated collecting system, Intrauterine growth retardation, Hydr... OMIM:617093
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia OMIM:240150
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... ORPHA:411634
Hypouricemia, Renal, 1
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... OMIM:220150
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... OMIM:300554
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Short stature, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia OMIM:617661
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadias, Hydronephro... OMIM:214100
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... ORPHA:99879
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... OMIM:613845
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Short stature, Maculopapular exanthema, Re... OMIM:191900
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Maculopapular exanthem... OMIM:619644
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Pancreatitis, Hyperammonemia, Renal insufficiency, Growth delay ORPHA:289916
Narcolepsy Type 1
Obesity ORPHA:2073
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Cystinuria
Nephrolithiasis, Hematuria, Hyperuricemia, Renal insufficiency ORPHA:214
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Laurence-Moon Syndrome
Renal insufficiency, Displacement of the urethral meatus, Hypoplasia of penis, Short stature ORPHA:2377
Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Nephropat... ORPHA:213
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Megabladder, Congenital
Multiple glomerular cysts, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Fetal megacystis OMIM:618719
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Fetal megacystis, Pyelonephritis, Anuria, Megacystis OMIM:619351
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Renal cyst, Nephropathy, Hematuria OMIM:611773
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Tubulointerstitial fibrosis, ... OMIM:607944
Bacterial Toxic-Shock Syndrome
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Elevat... ORPHA:36234
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency, Short stature ORPHA:281090
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria, Short stature OMIM:215250
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Growth delay, Periodontitis, Moderate albuminuria, Hydronephrosis, Proportionate short stature OMIM:619269
Myh9-Related Disease
Renal insufficiency, Nephropathy, Nephritis, Proteinuria ORPHA:182050
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Elevated circulating C-reactive protein concentration, Crescentic glomerulonephritis, ... OMIM:616414
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease OMIM:618061
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Nephrotic range proteinuria, Hyperkalemia, Oliguria, Acute kidney injury, Hyponatre... ORPHA:544482
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal i... ORPHA:93599
Gapo Syndrome
Growth delay, Tubulointerstitial fibrosis OMIM:230740
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Rhyns Syndrome
Chronic kidney disease, Renal insufficiency, Nephronophthisis, Short stature OMIM:602152
Dyschondrosteosis-Nephritis Syndrome
Short stature, Nephropathy, Hematuria, Proteinuria, Intrauterine growth retardation, Mesomelic sh... ORPHA:1765
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Growth delay, Hyperk... ORPHA:57
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Hematur... ORPHA:91547
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Chronic kidney disease, Elevated circulating creatine kinase... ORPHA:368
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Hypokalemia, Short stature, Abnormal urine sodium concentration,... ORPHA:320
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Primary Sjögren Syndrome
Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Abnormality of the ... ORPHA:289390
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... OMIM:308940
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Superficial dermal peri... ORPHA:284426
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Distal Renal Tubular Acidosis
Nephrolithiasis, Growth delay, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, ... ORPHA:18
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Uveitis, Renal insufficiency, Proteinuria, Postnatal growth retard... ORPHA:90321
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Rhizomelia, Renal insufficiency, Hydronephrosis, Postnatal growth retardation, Intra... OMIM:611209
Nephrogenic Diabetes Insipidus
Short stature, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladder, ... ORPHA:223
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Elevated circulating creatini... ORPHA:230
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia ORPHA:79327
Orthostatic Hypotension 1
Nocturia, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Joubert Syndrome 35
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Systemic Lupus Erythematosus
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis OMIM:152700
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Renal hypoplasia, Proteinuria, Short stature ORPHA:1307
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... OMIM:608836
Cranioectodermal Dysplasia 1
Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Tubulointerstitial nephriti... OMIM:218330
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperprolinemia... ORPHA:79101
Cryoglobulinemic Vasculitis
Viral hepatitis, Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy, Keratoco... ORPHA:91138
Familial Renal Glucosuria
Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary tract infecti... ORPHA:69076
Goodpasture Syndrome
Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Glomerular crescent formation,... OMIM:233450
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... OMIM:301050
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Glycosuria, Moderat... ORPHA:99885
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hypokalemia, Hydronephrosis OMIM:304900
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepatitis, Abnormality of the ki... ORPHA:91139
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Recurrent urinary trac... OMIM:615559
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Lymphadenitis, Proteinuria OMIM:618886
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration, Increased inflammat... ORPHA:542323
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia ORPHA:35710
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Proteinuria, Acne ORPHA:69126
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Renal insufficiency, Hyperammonemia ORPHA:79312
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria, Hyperbilirubinemia ORPHA:713
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Prune Belly Syndrome
Urogenital sinus anomaly, Abnormality of the ureter, Hydroureter, Multicystic kidney dysplasia, R... ORPHA:2970
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Decreased seru... ORPHA:447
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Renal insufficiency, Hyperammonemia ORPHA:27
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Postnatal growth retardation, Hydroureter, Vesicoureteral reflux OMIM:617219
Melas
Short stature, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Recurrent pancreatit... ORPHA:550
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency OMIM:614922
Hypocomplementemic Urticarial Vasculitis
Skin rash, Hematuria, Arthritis, Uveitis, Renal insufficiency, Proteinuria, Glomerulopathy, Episc... ORPHA:36412
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... OMIM:248190
Fanconi Anemia, Complementation Group O
Renal cyst, Short stature, Hydronephrosis, Stage 5 chronic kidney disease OMIM:613390
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Becker Muscular Dystrophy
Abnormal urinary color, Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:98895
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature ORPHA:2715
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... ORPHA:99829
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hypospadias, Mild proteinuria, Renal insufficiency, Hyperalaninemia, Gr... OMIM:619147
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... OMIM:300971
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Rheumatoid arthritis, Tubulointerstitial nephritis, Hepatitis, Atrophic gastritis,... ORPHA:227990
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Short stature, Proteinuria, Increased urinary O... OMIM:256550
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Transcobalamin Deficiency
Methylmalonic aciduria, Acute kidney injury ORPHA:859
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Proximal Renal Tubular Acidosis
Nephrolithiasis, Growth delay, Hypokalemia, Aminoaciduria, Mild postnatal growth retardation, Sho... ORPHA:47159
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Recurrent otitis media, Postnatal growth retardation, Intrauterine growth retardatio... ORPHA:2728
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Grow... OMIM:613550
Alagille Syndrome 1
Renal tubular acidosis, Renal dysplasia, Focal segmental glomerulosclerosis, Hypertriglyceridemia... OMIM:118450
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Rheumatoid arthritis, Tubulointerstitial nephritis, Hepatitis, Hashimoto thyroidit... ORPHA:227982
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Hyperhomocysti... OMIM:277400
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... ORPHA:31824
Glycogen Storage Disease Vii
Increased total bilirubin, Gout, Hyperuricemia, Exercise-induced myoglobinuria OMIM:232800
Mandibuloacral Dysplasia Progeroid Syndrome
Short stature, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Hypertriglyceridemia,... OMIM:619127
Hypercalcemia, Infantile, 1
Nephrolithiasis, Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis OMIM:143880
Pediatric Systemic Lupus Erythematosus
Dark urine, Discoid lupus rash, Nephrotic syndrome, Nephritis, Skin rash, Abnormality of the urin... ORPHA:93552
Systemic Capillary Leak Syndrome
Oliguria, Renal insufficiency, Abnormal renal tubule morphology ORPHA:188
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Short stature, Renal dysplasia, Renal hypoplasia, Renal insufficiency ORPHA:85321
Legionnaires Disease
Pancreatitis, Endocarditis, Hematuria, Myocarditis, Hepatitis, Renal insufficiency, Proteinuria, ... ORPHA:549
Majeed Syndrome
Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Abnormal inflammatory response, Pro... ORPHA:77297
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia, Postnatal growth retardation, Intrauterin... OMIM:614732
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Hypospadias, Renal dysplasia, Renal insufficiency, Postnatal growth retardation, Elevate... ORPHA:96179
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency, Short stature ORPHA:1563
Wild Type Attr Amyloidosis
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:330001
Nail-Patella Syndrome
Nephrotic syndrome, Short stature, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis OMIM:161200
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Babesiosis
Renal insufficiency ORPHA:108
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Actinic Prurigo
Glomerulonephritis, Cheilitis, Pyoderma OMIM:174770