Gene Summary

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

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.

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

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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

View all 175 images

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.

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
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Podocyte foot process e... OMIM:619263
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Short stature, Stage 5 chronic kidney disease, Steroid-resist... OMIM:618176
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... ORPHA:567548
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome OMIM:249660
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... ORPHA:567544
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Growth delay, Hyperlipidemia, Congenital nephrotic syndro... OMIM:256300
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Short stature, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse ... OMIM:617730
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem... OMIM:603278
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy 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, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Pentosuria
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... ORPHA:2843
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... OMIM:254900
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... OMIM:618348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612926
Galloway-Mowat Syndrome 2, X-Linked
Intrauterine growth retardation, Minimal change glomerulonephritis, Nephrotic syndrome, Short sta... OMIM:301006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Renal cyst, G... OMIM:617056
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short stature, Elevated circulating creat... OMIM:614376
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
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria... OMIM:137950
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Azotemia, Familial
Azotemia OMIM:109160
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Membranoproliferative gl... OMIM:608709
Nail-Patella-Like Renal Disease
Short stature, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot process effacement,... OMIM:617006
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Stage 5 chronic kidney dis... ORPHA:54370
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Nephronophthisis 1
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613779
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy, Severe short stature ORPHA:2820
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... OMIM:602522
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Oligospermia, Decreased HDL cholesterol concentration, Tubulointerstitial ... ORPHA:85450
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... ORPHA:255249
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Nephronophthisis 4
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:606966
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Po... OMIM:619468
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Medullary nephrocalcinosis, Re... OMIM:611555
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Stage 5 chronic kid... OMIM:251000
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency, Intrauterine growth retardation OMIM:613861
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Glomerulopathy, Nephroblastoma, Proteinur... ORPHA:347
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Renal insufficiency, Abnorma... OMIM:615993
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased level of gala... OMIM:230400
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Nephrotic syndrome, Short stature, Glomerular sclerosis, Stage 5... OMIM:617729
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Birk-Landau-Perez Syndrome
Renal insufficiency, Hyperechogenic kidneys, Tubulointerstitial nephritis, Hyperkalemia OMIM:617595
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Recurrent myoglobinuria, Glomerular sclerosis... OMIM:607426
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... OMIM:194080
Preeclampsia
Intrauterine growth retardation, Elevated circulating creatinine concentration, Acute kidney inju... ORPHA:275555
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... ORPHA:567546
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Hyperuricemi... ORPHA:79233
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... ORPHA:439232
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:157
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... OMIM:609049
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Renal dysplasia, Elevated circulating creatinine concentration, ... OMIM:616733
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation OMIM:189800
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Growth delay, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria OMIM:619428
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Dent Disease 2
Short stature, Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tub... OMIM:300555
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:228308
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hyperlipidemia, Short stature, Decreased glomerular filtratio... OMIM:232200
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Short stature, Increased blood urea nitrogen, Membranoproli... ORPHA:251004
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... ORPHA:2260
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Hyperlipidemia, Short stature, Decreased glomerular filtratio... OMIM:232220
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, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... ORPHA:839
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of renal corticomed... OMIM:263200
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... ORPHA:488627
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency ORPHA:225
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency, Nephropathy ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerula... OMIM:223900
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne... ORPHA:411536
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Nephrotic syndrome, Short st... OMIM:251300
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... OMIM:619113
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Nephronophthisis
Renal insufficiency ORPHA:655
Alstrom Syndrome
Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, ... OMIM:203800
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia OMIM:245900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary no... ORPHA:276621
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hyperlipidemia, Hematuria, Decreased glomerular filtration ra... OMIM:232240
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... ORPHA:49041
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Nephrotic syndrome, Dispropo... OMIM:242900
Macrosomia Adiposa Congenita
Obesity, Large for gestational age OMIM:248100
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Arthriti... ORPHA:183
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Aicardi-Goutieres Syndrome 9
Pericarditis, Intrauterine growth retardation, Glomerular sclerosis, Stage 5 chronic kidney disea... OMIM:619487
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,... ORPHA:340
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... OMIM:613095
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Short stature, Decreased glomerular filtration rate, Nephrolithias... OMIM:601198
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Elevated circulating creatinine concentration, Glomerular sclerosis, Skin rash, Nephro... ORPHA:247691
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... ORPHA:33001
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... ORPHA:139402
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine OMIM:232600
Summitt Syndrome
Obesity OMIM:272350
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Skin rash, Nephropathy, Proteinuria OMIM:105200
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis OMIM:616239
Tyrosinemia, Type I
Renal Fanconi syndrome, Hypophosphatemic rickets, Nephrocalcinosis, Hypertyrosinemia, Glomerular ... OMIM:276700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Abnormal ... ORPHA:37042
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney, Short stature ORPHA:459061
Nephrosialidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome OMIM:256150
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Minimal change glomeruloneph... ORPHA:1830
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Serositis, Malar ras... ORPHA:231111
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Cednik Syndrome
Proteinuria, Short stature, Nephrotic syndrome ORPHA:66631
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Short stature ORPHA:3156
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Hyperuricemia ORPHA:510
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Sjogren Syndrome
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Growth delay, Hyperlipidemia, Nephrocalcinosis, Short statur... ORPHA:79259
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Short stature, Nephrocalcinosis, Glycosuria, Aminoaciduria, Prot... OMIM:616026
Systemic Sclerosis
Myocarditis, Pericarditis, Elevated circulating creatine kinase concentration, Arthritis, Osteomy... ORPHA:90291
Hereditary Xanthinuria
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... ORPHA:3467
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Rhizomelia, Short stature OMIM:617661
Duplication Of Urethra
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C... ORPHA:237
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Short stature, Hypophosphatemia, Glycosur... OMIM:134600
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Mild p... ORPHA:91500
Galloway-Mowat Syndrome 6
Proteinuria, Short stature, Nephrotic syndrome, Hypoalbuminemia OMIM:618347
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosi... ORPHA:29072
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Recurre... OMIM:617303
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased HDL cholesterol concentration, Renal tubular d... ORPHA:330015
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... ORPHA:2364
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hyp... OMIM:613388
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnorm... ORPHA:261222
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia ORPHA:147
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, ... ORPHA:411543
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... ORPHA:85445
Uremic Pruritus
Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk... ORPHA:94059
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis OMIM:134610
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Pancreatitis... OMIM:619386
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Eleva... ORPHA:158684
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophos... OMIM:300009
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Hypokal... ORPHA:358
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Increased circulating NT-proBNP concentr... ORPHA:85443
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... ORPHA:90038
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:1192
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Cocaine Intoxication
Tubulointerstitial nephritis, Colitis, Elevated circulating creatine kinase concentration, Hematu... ORPHA:90068
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased total bilirubin ORPHA:890
Hyperuricemia, Hprt-Related
Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria, Renal insufficiency OMIM:300323
Jeune Syndrome
Nephronophthisis, Short stature, Renal insufficiency, Nephropathy ORPHA:474
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Albuminuri... OMIM:214100
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Multiple glomerular cysts, Elevated circulating creatinine concent... OMIM:137920
Arima Syndrome
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:243910
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Short stature, Hyperlipidemia, Delayed puberty, Proteinuria, Abnormality of the kidney ORPHA:369
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Growth delay, Hypokalemi... ORPHA:411634
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasis, Renal insufficiency OMIM:300661
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Aminoaciduria, Tubulointerstitial nephritis OMIM:124000
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal p... OMIM:300554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Diffuse mesangial sclerosis, Pneumonia OMIM:102700
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... OMIM:614748
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Postnatal growth retardation, Duplicated collecting system, Intrauterine growth r... OMIM:617093
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys... ORPHA:93598
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Muckle-Wells Syndrome
Short stature, Maculopapular exanthema, Recurrent aphthous stomatitis, Elevated circulating C-rea... OMIM:191900
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Liddle Syndrome
Hypokalemia, Renal insufficiency, Nephropathy ORPHA:526
Xfe Progeroid Syndrome
Proteinuria, Renal insufficiency, Severe short stature OMIM:610965
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... OMIM:613845
Nephronophthisis 13
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:614377
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Growth delay, Pancreatitis, Hyperammonemia, Renal insufficiency ORPHA:289916
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Short stature, Glycosuria, Aminoaciduria, Proteinuria OMIM:615605
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hemolytic-uremic syndrome, Recurrent pneumonia, Maculopapular exanthema, Memb... OMIM:619644
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency ORPHA:454
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia ORPHA:214
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Short stature, Tubulointerstitial fibrosis, Recurrent otitis media, Rheumatoid arthrit... OMIM:607944
Narcolepsy Type 1
Obesity ORPHA:2073
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated circulating cre... ORPHA:36234
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Cystinosis
Renal tubular dysfunction, Hypokalemia, Short stature, Hypophosphatemia, Nephropathy, Aminoacidur... ORPHA:213
Laurence-Moon Syndrome
Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency, Short stature ORPHA:2377
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria OMIM:278300
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Renal cyst, Nephropathy OMIM:611773
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Growth delay, Proportionate short stature, Periodontitis OMIM:619269
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, Arthritis, ... OMIM:616414
Myh9-Related Disease
Renal insufficiency, Nephritis, Proteinuria, Nephropathy ORPHA:182050
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease, Gout OMIM:618061
Gapo Syndrome
Tubulointerstitial fibrosis, Growth delay OMIM:230740
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Short stature, Unilateral renal agenesis ORPHA:281090
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephro... ORPHA:544482
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Short stature, Nephrotic syndrome OMIM:215250
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Growth delay, Elevated creatine kinase after exercise, Acute kidney ... ORPHA:57
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hypercalcemia, Renal insufficiency ORPHA:2123
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Relapsing Fever
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Incr... ORPHA:91547
Dyschondrosteosis-Nephritis Syndrome
Mesomelic short stature, Intrauterine growth retardation, Short stature, Hematuria, Nephropathy, ... ORPHA:1765
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Decreased circulating renin level, Hypokalemia, Nephrocalcinosis... ORPHA:320
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency, Short stature OMIM:602152
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Heme Oxygenase 1 Deficiency
Growth delay, Hematuria, Nephritis, Increased circulating ferritin concentration, Proteinuria, El... OMIM:614034
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Short stature, Proximal tubulopa... ORPHA:18
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Hematuria, Unilateral renal dysplasia, Pro... OMIM:146255
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Familial Renal Glucosuria
Moderate postnatal growth retardation, Renal tubular dysfunction, Glycosuria, Recurrent urinary t... ORPHA:69076
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature OMIM:613390
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Intrauterine growth retardation, Rhizomelia, Postnatal growth retard... OMIM:611209
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Nephrogenic Diabetes Insipidus
Growth delay, Hypernatremia, Short stature, Enuresis nocturna, Functional abnormality of the blad... ORPHA:223
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... OMIM:191800
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivasc... ORPHA:284426
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... ORPHA:230
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Proteinuria, Renal insufficiency, Short stature ORPHA:1307
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration ORPHA:90060
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Elevated circulating creatine kinase concentration, Exercise-ind... ORPHA:368
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Cockayne Syndrome Type 1
Uveitis, Postnatal growth retardation, Increased blood urea nitrogen, Proteinuria, Renal insuffic... ORPHA:90321
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash OMIM:152700
Goodpasture Syndrome
Macroscopic hematuria, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylindruria, Glome... OMIM:233450
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Wilson Disease
Hyperphosphaturia, High nonceruloplasmin-bound serum copper, Renal tubular dysfunction, Aminoacid... OMIM:277900
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hematuria, Arthritis, Glomerulopathy, Viral hepatitis, Proteinuria, R... ORPHA:91138
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Glycosuria, Abn... ORPHA:99885
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:159
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia ORPHA:79327
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria, Hypokalemia OMIM:304900
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Simple Cryoglobulinemia
Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hypercellularity, Microscopic h... ORPHA:91139
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Membranous nephropathy, Recurrent otitis media, Stage 5 chronic kidney diseas... OMIM:615559
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Increa... ORPHA:542323
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria OMIM:233100
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... OMIM:613090
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperglycinemia... ORPHA:79101
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:35710
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Proteinuria ORPHA:69126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Pancreatitis, Hyperammonemia ORPHA:79312
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Rhizomelia, Hypocalcemia, Chronic kidney disease, Renal magnesium w... OMIM:218330
Pseudo-Torch Syndrome 3
Lymphadenitis, Increased circulating ferritin concentration, Acute kidney injury, Proteinuria OMIM:618886
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Intrauterine growth retardation, Micropenis, Postnatal growth retarda... OMIM:614732
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Renal artery stenosis, Nephropathy OMIM:209010
Melas
Focal segmental glomerulosclerosis, Short stature, Proximal tubulopathy, Recurrent pancreatitis, ... ORPHA:550
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp... OMIM:248190
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Myoglobinuria, Abnormal urinary color ORPHA:98895
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hematuria, Arthritis, Uveitis, Inflammatory abnormality of the eye, Skin rash, Glom... ORPHA:36412
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Renal tubular acidosis, Renal dysplasia, Mu... OMIM:118450
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Pancreatitis, Hyperammonemia ORPHA:27
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Postnatal growth retardation, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Urogenital sinus anomaly, Recurre... ORPHA:2970
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Aminoaciduria, Bicarbonate-wasting renal tu... ORPHA:47159
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Yellow Fever
Elevated circulating creatine kinase concentration, Anuria, Elevated circulating creatinine conce... ORPHA:99829
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Short stature ORPHA:2715
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Iridocyc... ORPHA:227990
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Nephropathy ORPHA:2774
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Growth delay, Hyperalaninemia, Increased serum pyruvate, Mild proteinuria, Renal ins... OMIM:619147
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Postnatal growth retardation, Hypocalcemia, Nephrocalcinosis OMIM:179800
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a... OMIM:277400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Recurrent otitis media, Postnatal growth retardation, Multiple b... ORPHA:2728
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... ORPHA:31824
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Short stature, Renal dysplasia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Iridocyc... ORPHA:227982
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolif... OMIM:137940
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... ORPHA:411709
Nephronophthisis 11
Renal tubular atrophy, Growth delay, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chro... OMIM:613550
Neuraminidase Deficiency
Proteinuria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialope... OMIM:256550
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short stature, Nephronophthisis, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease, Nep... OMIM:266920
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology ORPHA:188
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Myositis, Abnormality of the urinary system, Hematuria, Nephritis, Discoid lu... ORPHA:93552
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria OMIM:143880
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia OMIM:232800
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hematuria, Hepati... ORPHA:549
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Short stature, Postnatal growth retardation, Elevated hemoglo... OMIM:619127
Dahlberg-Borer-Newcomer Syndrome
Short stature, Renal insufficiency, Nephropathy, Hypocalcemia ORPHA:1563
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Acne, O... ORPHA:77297
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:330001
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Growth delay, Renal dysplasia, Bifid ureter, ... OMIM:617641
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... OMIM:220110
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Babesiosis