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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
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... 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
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Hyperprolinemia Type 1
Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria ORPHA:419
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Growth delay, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia... OMIM:256300
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ... ORPHA:2843
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:617575
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity OMIM:620425
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:614376
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Intrauterine growth retard... OMIM:301006
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Intrauterine growth retardation, Proteinuria... OMIM:618347
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricemia, Renal ... OMIM:603860
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria ORPHA:2613
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro... OMIM:617006
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ... OMIM:256100
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Proteinuria, Hematuria, Membranoproliferative glomerulo... OMIM:608709
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Severe short stature ORPHA:2820
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Nephronophthisis 4
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... OMIM:606966
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Intrauterine growth ret... OMIM:617595
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab... OMIM:123550
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Bardet-Biedl Syndrome 16
Renal agenesis, Recurrent otitis media, Stage 5 chronic kidney disease, Renal insufficiency, Rena... OMIM:615993
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Increased level of... OMIM:230400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mild proteinuria OMIM:301108
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Intrauterine growth retardation, Stage 5 chronic kidney disease, Proteinuria, Di... OMIM:617729
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Short stature, Tubulointerstitial nephritis OMIM:616901
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia, Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation OMIM:189800
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... OMIM:162000
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Intrauterine growth retardation, Postnatal growth ... OMIM:616733
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Gout, H... OMIM:232200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammonemia, Pancreat... OMIM:251000
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration, Proteinur... OMIM:607426
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glomerulonephr... ORPHA:251004
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ... ORPHA:470
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule... ORPHA:839
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Lessel-Kubisch Syndrome
Short stature, Renal hypoplasia, Renal insufficiency OMIM:618681
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri... OMIM:254900
Nephronophthisis
Renal insufficiency ORPHA:655
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Glycogen Storage Disease Iv
Abnormal circulating creatine kinase concentration, Tubulointerstitial fibrosis OMIM:232500
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Short stature, Conjugat... OMIM:620010
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Intrauterine growth retardation, Renal insuf... OMIM:251300
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia, Proteinuria, Hypon... OMIM:613845
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Intra... ORPHA:275555
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Growt... OMIM:618882
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate... ORPHA:49041
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Increased inflammatory re... ORPHA:183
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev... ORPHA:340
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232240
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Autoinflammatory-Pancytopenia Syndrome
Chilblains, Intestinal inflammation, Proteinuria, Membranoproliferative glomerulonephritis, Growt... OMIM:619858
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Pneumonia, Elevated circulating creatinine concentration, Skin rash, Proteinuria, Gl... ORPHA:247691
Lead Poisoning
Chronic kidney disease, Increased LDL cholesterol concentration, Skin rash, Renal tubular dysfunc... ORPHA:330015
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat... OMIM:620235
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hypoalbuminemia, Recurrent urinary tract infections, Hype... OMIM:619487
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu... OMIM:263200
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Tubulointerstitial Nephritis And Uveitis Syndrome
Scleritis, Elevated circulating C-reactive protein concentration, Tubulointerstitial nephritis, A... ORPHA:91500
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Growth delay,... ORPHA:1830
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Short stature, Abnormality of the kidney ORPHA:459061
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Skin rash, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency ORPHA:2668
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency OMIM:256150
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... ORPHA:97362
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Ulcerative colitis, Stage 5... ORPHA:79259
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Short stature ORPHA:3156
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... OMIM:616963
Cednik Syndrome
Proteinuria, Nephrotic syndrome, Short stature ORPHA:66631
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Lesch-Nyhan Syndrome
Hematuria, Gout, Renal insufficiency, Hyperuricemia ORPHA:510
Drug-Induced Lupus Erythematosus
Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea n... ORPHA:231111
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Arima Syndrome
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, ... OMIM:243910
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Elevated circula... ORPHA:90291
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration OMIM:616239
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:270150
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis ORPHA:375
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... ORPHA:3467
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm... ORPHA:261222
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Malaria
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia ORPHA:673
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Stage 5 chronic kidney disea... OMIM:242900
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased total bilirubin ORPHA:890
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Recurrent pneumonia, Proteinuria,... OMIM:617303
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Al Amyloidosis
Hypoalbuminemia, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Increased... ORPHA:85443
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the ... ORPHA:94059
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circulating creati... OMIM:619386
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Short stature, Proteinuria ORPHA:1192
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Arthritis, Uric a... ORPHA:411543
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Gout, Renal tubula... ORPHA:358
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:971
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Hyperuricemia, Hprt-Related
Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria OMIM:300323
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ... OMIM:618061
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Delayed puberty, Abnormality of the kidney, Short stature, Growth delay ORPHA:369
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... OMIM:616026
Cocaine Intoxication
Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ... ORPHA:90068
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Post... OMIM:620366
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Renal tubular aci... OMIM:613404
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:611773
Retinitis Pigmentosa 59
Micropenis, Intrauterine growth retardation, Renal insufficiency OMIM:613861
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... OMIM:154230
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency, Short stature ORPHA:474
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Decreased HDL cholesterol concentration, Chronic active hepatitis... OMIM:203800
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Muckle-Wells Syndrome
Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, Elevated circulating C-rea... OMIM:191900
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Intrauterine growth retardation, Renal tubular acidosis, 3-Methylglutacon... ORPHA:324525
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ... OMIM:614748
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Albuminu... OMIM:214100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Growth delay ORPHA:289916
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia, Short stature OMIM:617661
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency ORPHA:454
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Elevated circ... OMIM:619644
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... OMIM:616414
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Cystinuria
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis ORPHA:214
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Laurence-Moon Syndrome
Short stature, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus ORPHA:2377
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Tubulointerstitial ... OMIM:607944
Syndromic Recessive X-Linked Ichthyosis
Short stature, Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis OMIM:619351
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Hypokale... ORPHA:213
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Hyperechogenic kidneys, Elevated circulating creatinine concentra... OMIM:301110
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria ORPHA:182050
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Elevated ci... ORPHA:36234
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Proportionate short stature, Hydronephrosis, Growth delay OMIM:619269
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Postnat... OMIM:227810
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Nephro... ORPHA:544482
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Short stature OMIM:215250
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia... ORPHA:79101
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... OMIM:143880
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocytic interstitial pne... ORPHA:289390
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Intrauterine growth retardation, Renal insufficiency, Decreased circulating ren... ORPHA:320
Xanthinuria, Type I
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... OMIM:278300
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Growth delay, Elevated creatine kinase after ex... ORPHA:57
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration ORPHA:90060
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated... ORPHA:368
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Low-molecular-weight protein... ORPHA:18
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Intrauterine growth retardation, Mesomelic short stature, Proteinuria, Hematuria, Sh... ORPHA:1765
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Alg1-Cdg
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Hypomagnesemia, Increased blood ur... OMIM:223360
Cockayne Syndrome Type 1
Postnatal growth retardation, Renal insufficiency, Proteinuria, Increased blood urea nitrogen, Co... ORPHA:90321
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Hematuria, Proteinuria, Elevated circula... OMIM:614034
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... ORPHA:230
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentration, Decrea... OMIM:608836
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... ORPHA:159
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Cranioectodermal Dysplasia 1
Chronic kidney disease, Rhizomelia, Renal magnesium wasting, Stage 1 chronic kidney disease, Stag... OMIM:218330
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Renal insufficiency, Hyperammonemia ORPHA:79312
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Keratoconjunctivitis sicca, Arthriti... ORPHA:91138
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Intrauterine growth retardation, Renal tubular dysfu... ORPHA:99885
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia, Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal conce... OMIM:614227
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency, Short stature ORPHA:1307
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency ORPHA:713
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Familial Renal Glucosuria
Nephropathy, Moderate postnatal growth retardation, Glycosuria, Recurrent urinary tract infection... ORPHA:69076
Gapo Syndrome
Tubulointerstitial fibrosis, Growth delay OMIM:230740
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Recurrent otitis media, Stage 5 chronic kidney disease, Recur... OMIM:615559
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyuria OMIM:222100
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin rash... ORPHA:542323
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration OMIM:618886
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne ORPHA:69126
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Crome Syndrome
Short stature, Renal tubular epithelial necrosis OMIM:218900
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Renal insufficiency, Hyperammonemia ORPHA:27
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Arthritis, ... ORPHA:36412
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Membran... ORPHA:91139
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia ORPHA:35710
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency, Short stature OMIM:602152
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Proteinuria, Recurrent pan... ORPHA:550
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency, Short stature ORPHA:2715
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia OMIM:266120
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... ORPHA:99829
Becker Muscular Dystrophy
Myoglobinuria, Elevated circulating creatine kinase concentration, Abnormal urinary color ORPHA:98895
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivitis sicca, T... ORPHA:227990
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis, Cholangitis OMIM:124000
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Renal insufficiency, Oliguria ORPHA:188
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hyperalaninemia, Increased serum pyruvate, Growth delay, Mild proteinuria OMIM:619147
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature OMIM:613390
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclitis, Kerato... ORPHA:227982
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Short stature, Urinary excretion of sialyl... OMIM:256550
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Gout, Hyperuricemia, Elevated circulat... OMIM:232800
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ... OMIM:613550
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency... ORPHA:93552
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Synovitis, Glomerulopathy... ORPHA:77297
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Postnatal growth retardation, Proteinuria, Hypertriglyceridem... OMIM:619127
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Legionnaires Disease
Hepatitis, Renal insufficiency, Infectious encephalitis, Hematuria, Proteinuria, Hyponatremia, Pa... ORPHA:549
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal insufficiency, Short stature, Hypoplasia of penis, Renal dysplasia ORPHA:85321
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Recurrent otitis media, Postnatal growth retardation, Intrauterine ... ORPHA:2728
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... OMIM:137940
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Babesiosis
Renal insufficiency ORPHA:108
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Maternal Uniparental Disomy Of Chromosome 2
Elevated amniotic fluid alpha-fetoprotein, Postnatal growth retardation, Intrauterine growth reta... ORPHA:96179
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Aminoaciduria, Genera... OMIM:219800
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Short stature, Renal insufficiency, Hypocalcemia ORPHA:1563
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Short stature, Nephrotic syndrome OMIM:161200
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Growth delay ORPHA:445038
Galloway-Mowat Syndrome
Nephropathy, Intrauterine growth retardation, Proteinuria, Short stature, Nephrotic syndrome ORPHA:2065
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Renal agenesis, Hyperechogenic kidneys... OMIM:617641
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Orchitis, Hematuria, Proteinuria, Knee osteoarthritis, Glome... ORPHA:2035
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Postnatal growth retardation, Intrauterine growth retardation, Hypercalciuria, Micro... OMIM:614732
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia OMIM:614922
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma OMIM:194072
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Ddost-Cdg
Nephrotic range proteinuria, Short stature ORPHA:300536
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Sarcoidosis
Nephrocalcinosis, Parotitis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Keratoconjunct... ORPHA:797
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Postnatal growth retardation, Hypocalcemia, Nephrolithiasis, Cystinuria OMIM:606407
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Short stature OMIM:247410
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Colonic eosinophilia, Membranous nephropathy, Short stature, Nephrotic syndrome OMIM:618999
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of... ORPHA:95455
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Adiposis Dolorosa
Obesity OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Short stature, C... OMIM:208500
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis, Short stature OMIM:615630
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Microscopic Polyangiitis
Uveitis, Oliguria, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increased inflammator... ORPHA:727
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... ORPHA:228305
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Short stature, Uric acid... OMIM:300661
Wild Type Attr Amyloidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria ORPHA:330001
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Liddle Syndrome 1
Hypokalemia, Renal insufficiency, Decreased circulating renin level OMIM:177200
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Nephrotic syndro... ORPHA:29073
Lamellar Ichthyosis
Short stature, Chronic otitis media, Renal insufficiency, Erythroderma ORPHA:313
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary... OMIM:618885
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Isolated Sedoheptulokinase Deficiency
Hepatitis, Renal insufficiency, Severe postnatal growth retardation, Abnormal renal tubule morpho... ORPHA:440713
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Fabry Disease
Lipiduria, Renal insufficiency, Proteinuria, Delayed puberty, Urinary mulberry cells OMIM:301500
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypophosphatemic rickets, Proteinuria, Renal Fanconi syndrome, Abnormal circulating f... ORPHA:263455
Mitochondrial Trifunctional Protein Deficiency 2
Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ... OMIM:620300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Cholera
Acute kidney injury, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hyponatremia, D... ORPHA:173
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Short s... ORPHA:261265
Severe Acute Respiratory Syndrome
Acute kidney injury, Acute infectious pneumonia ORPHA:140896
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomer... OMIM:619525
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H... ORPHA:2237
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... ORPHA:48435
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria OMIM:617671
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar... ORPHA:71212
Generalized Pustular Psoriasis
Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Palmoplantar pustulosis, Hyponatremia, Pustul... ORPHA:247353
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Scrub Typhus
Renal insufficiency, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Lassa Fever
Oliguria ORPHA:99824
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... OMIM:203500
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Growth delay, Dicarboxylic aciduria OMIM:231530
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Renal insufficiency, Skin rash, Infectious... ORPHA:33475
Pheochromocytoma
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Stage 1 chronic kidney disease OMIM:618821
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Bardet-Biedl Syndrome 9
Renal insufficiency OMIM:615986
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... OMIM:201475
Xfe Progeroid Syndrome
Proteinuria, Renal insufficiency, Severe short stature, Hypoalbuminemia OMIM:610965
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration OMIM:619685
Boutonneuse Fever
Maculopapular exanthema, Renal insufficiency, Skin rash ORPHA:83313
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Decreased uri... ORPHA:31826
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis OMIM:217090
Adult-Onset Still Disease
Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin concentration... ORPHA:829
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Postnatal growth retardation, Intrauterine growth retardation, Renal insufficiency, H... OMIM:611209
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Immunoglobulin A Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl... ORPHA:761
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia, Gr... ORPHA:469
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thyroiditis, Myositis ORPHA:79078
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease OMIM:613819
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... ORPHA:89938
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Skin rash,... ORPHA:556
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Myoglobinuria, Hyperammonemia, Elevated circula... OMIM:609015
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Disproportionate... ORPHA:1855
Immunodeficiency 61
Obesity OMIM:300310
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Chordee, Micropenis, Short stature OMIM:300519
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure ORPHA:90051
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinuria, Hydronep... ORPHA:900
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Oligozoospermia, Renal dysplasia OMIM:314300
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria, Hypokalemia, Increased serum bile acid concentration OMIM:619377
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Proximal tubulopathy, Hypocholesterolemia, Proteinuria, Renal cyst, Nephrotic sy... OMIM:212065
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Microscopic hematuria, Oliguria, Renal ins... ORPHA:319213
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia, Mitochondrial swelling, Lacticaciduria OMIM:618250
Nephronophthisis 15
Obesity OMIM:614845
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Keratitis, Aspiration pneumonia, Stage 5 chronic kidney dise... ORPHA:1018
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Postnatal growth retardation, Hyperbilirubinemia, Dark urine, Abnormal seru... ORPHA:79303
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep... ORPHA:728
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal... ORPHA:391641
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Myogl... OMIM:251900
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Erysipelas, Skin rash, Orchitis, Proteinuria, Peritonitis, Pancrea... ORPHA:342
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Hypocalcemia, Hyper... ORPHA:94093
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... ORPHA:79276
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Renal Nutcracker Syndrome
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Renal insufficiency, Hyperlipidemia, Hemat... ORPHA:324
Systemic Lupus Erythematosus
Discoid lupus rash, Malar rash, Hematuria, Proteinuria, Lupus nephritis, Arthritis, Cheilitis, Py... ORPHA:536
Ogden Syndrome
Growth delay, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation, Intrau... OMIM:300855
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Neonatal death OMIM:608104
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Renal tubular acidosis, Elevated circulating creatine kinase concen... ORPHA:79240
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Growt... ORPHA:79282
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy p... ORPHA:505248
Familial Dysautonomia
Renal insufficiency, Hyponatremia, Glomerulopathy, Abnormality of the kidney, Growth delay ORPHA:1764
Snakebite Envenomation
Hyponatremia, Acute kidney injury ORPHA:449285
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Wilson Disease
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... OMIM:277900
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Short stature, Ecto... ORPHA:140952
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Postnatal growth retardation, Intrauterine growth retardation, Hyperammonemia, H... OMIM:617093
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:607155
Sifrim-Hitz-Weiss Syndrome
Micropenis, Vesicoureteral reflux, Renal insufficiency, Short stature OMIM:617159
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Short stature, Micropenis... ORPHA:261494
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Marcus-Gunn Syndrome
Postnatal growth retardation, Nephrolithiasis ORPHA:91412
Avian Influenza
Pneumonia, Hypoalbuminemia, Acute kidney injury, Myelitis, Hepatitis, Elevated circulating creati... ORPHA:454836
Castleman Disease
Hematuria, Ureteral obstruction, Renal insufficiency, Elevated circulating C-reactive protein con... ORPHA:160
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Proteinuria, Hypertriglyceridemia, Panniculitis, Acute ... ORPHA:79086
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hyperechogenic kidneys, Rhizomelic arm shortening, Renal cortical cysts, Renal insufficiency, Rhi... ORPHA:397715
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Porphyria Cutanea Tarda
Increased circulating iron concentration, Cutaneous abscess, Increased circulating ferritin conce... ORPHA:101330
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chronic otitis media... ORPHA:534
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Esophagitis, Hypospadias, Postnatal growth retardation ORPHA:79350
Acute Adrenal Insufficiency
Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Delayed puberty, R... ORPHA:95409
Refsum Disease
Renal insufficiency ORPHA:773
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperc... ORPHA:264580
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circula... ORPHA:556037
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Vesicoureteral reflux, Renal insufficiency, Growth delay ORPHA:96147
Mercury Poisoning
Hypokalemia, Acute kidney injury, Interstitial pneumonitis ORPHA:330021
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Pseudo-Torch Syndrome 1
Renal insufficiency OMIM:251290
Glycogen Storage Disease Xii
Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulating creatine kinas... OMIM:611881
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circula... ORPHA:556030
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polyuria, Megacystis OMIM:125800
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... OMIM:616878
Cornelia De Lange Syndrome 1
Pneumonia, Renal hypoplasia, Intrauterine growth retardation, Reduced renal corticomedullary diff... OMIM:122470
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Polyuria, Megacystis OMIM:304800
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase leve... OMIM:300908
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Pearson Syndrome
Glycosuria, Hypomagnesemia, Postnatal growth retardation, Renal insufficiency, Hypocalcemia, Prot... ORPHA:699
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipi... ORPHA:2298
Bardet-Biedl Syndrome 20
Proteinuria, Pancreatitis, Micropenis, Hypercholesterolemia OMIM:619471
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Hellp Syndrome
Hemoglobinuria, Proteinuria, Acute kidney injury ORPHA:244242
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Postn... OMIM:309000
Tafro Syndrome
Elevated circulating C-reactive protein concentration, Renal insufficiency ORPHA:457077
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca ORPHA:85448
Cranioectodermal Dysplasia 4
Short stature, Recurrent pneumonia, Stage 5 chronic kidney disease OMIM:614378
Shigellosis
Pneumonia, Acute kidney injury, Uveitis, Conjunctivitis, Ulcerative colitis, Urethritis, Hyponatr... ORPHA:810
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Hepatitis, Increased circulating ferritin concentration OMIM:194380
Wagro Syndrome
Proteinuria, Nephroblastoma OMIM:612469
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Postnatal growth re... ORPHA:96148
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis OMIM:617994
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Eosinophilic dermal i... ORPHA:293173
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Polycysti... OMIM:208540
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Delayed puberty, Short stature OMIM:208060
Hermansky-Pudlak Syndrome 1
Colitis, Inflammation of the large intestine, Renal insufficiency OMIM:203300
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Marburg Hemorrhagic Fever
Hypoalbuminemia, Uveitis, Elevated circulating creatinine concentration, Renal insufficiency, Hyp... ORPHA:99826
Pyomyositis
Myositis, Renal insufficiency, Recurrent cutaneous abscess formation ORPHA:764
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... ORPHA:322
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Short stature, Renal insufficiency OMIM:226980
Cockayne Syndrome
Severe short stature, Unilateral renal agenesis, Renal hypoplasia, Postnatal growth retardation, ... ORPHA:191
Erdheim-Chester Disease
Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Dysuria ORPHA:35687
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Renal salt ... OMIM:612780
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts OMIM:267010
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, Calcinosis, Hyperca... OMIM:239200
Teratoma, Pineal
Polyuria OMIM:273120
Argininemia
Oroticaciduria, Postnatal growth retardation, Hyperammonemia, Hyperargininemia, Diaminoaciduria OMIM:207800
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis ORPHA:35858
Giant Cell Arteritis
Hematuria, Renal insufficiency, Arthritis, Pericarditis ORPHA:397
Sickle Cell Disease
Hematuria, Renal insufficiency OMIM:603903
Familial Mediterranean Fever
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Crohn's disease, Orchitis, Periton... OMIM:249100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Increased circulating ferritin concentration, Oroticaciduria, Stag... OMIM:222700
Stevens-Johnson Syndrome
Abnormality of the urethra, Renal insufficiency, Pancreatitis, Conjunctivitis, Dysuria ORPHA:36426
Cranioectodermal Dysplasia 3
Short stature, Rhizomelia, Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Toxic Epidermal Necrolysis
Abnormality of the urethra, Renal insufficiency, Pancreatitis, Conjunctivitis, Dysuria ORPHA:537
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Postnatal growth retardation, Nephroblastoma, Ectopi... OMIM:610832
Gaucher Disease Type 3
Hematuria, Proteinuria, Delayed puberty, Growth delay ORPHA:77261
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease, Hyperlipidemia, Growth delay OMIM:608612
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Chronic otitis media ORPHA:2750
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Hyper... OMIM:301068
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria ORPHA:25
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Intrauterine growth retardation, Renal insuff... OMIM:133540
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Recurrent aphthous stomatitis, Renal insufficiency, Gastritis, Glomerulonephritis, Art... ORPHA:3261
Kawasaki Disease
Hypoalbuminemia, Sterile pyuria, Hepatitis, Skin rash, Cholecystitis, Proteinuria, Arthritis, Myo... ORPHA:2331
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Cockayne Syndrome A
Intrauterine growth retardation, Renal insufficiency, Proteinuria, Severe postnatal growth retard... OMIM:216400
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma... ORPHA:805
Behçet Disease
Recurrent aphthous stomatitis, Renal insufficiency, Infectious encephalitis, Increased inflammato... ORPHA:117
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Short stature OMIM:181270
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia, Short stature OMIM:311200
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Nocturia... OMIM:263800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... OMIM:211900
Coccidioidomycosis
Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Renal insufficiency, Panniculitis, Ski... ORPHA:228123
Waldenström Macroglobulinemia
Renal insufficiency ORPHA:33226
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Pustule, Peritonit... ORPHA:73263
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Aymé-Gripp Syndrome
Proteinuria, Postnatal growth retardation, Short stature, Pericarditis ORPHA:1272
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Rhizomelia, Hyperbilirubinemia, Renal insufficiency, Renal cyst, Short statu... OMIM:613610
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased circulating fe... OMIM:619534
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Rhizomelia, Stage 5 chronic kidney disease, Reduced renal ... OMIM:266920
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Large for gestational age, Small for gestational age ORPHA:254534
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Urethritis, Osteomyelitis, Abnormality... ORPHA:2552
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Growth delay, Recurrent urinary tract infections,... ORPHA:84
Gaucher Disease
Hepatitis, Increased circulating ferritin concentration, Osteomyelitis, Hematuria, Proteinuria, D... ORPHA:355
Listeriosis
Pneumonia, Acute kidney injury, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectio... ORPHA:533
Holoprosencephaly
Proteinuria, Hypoplasia of penis, Abnormality of the urinary system, Hyponatremia ORPHA:2162
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Hermansky-Pudlak Syndrome
Renal insufficiency ORPHA:79430
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatitis, Renal insufficiency, Pancreatitis, Ulcerative colitis, Thyroiditis, U... ORPHA:171
Narcolepsy 7
Obesity OMIM:614250
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Intrauterine growth retardation, Short stature, Micropenis, Azotemia OMIM:619321
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis, Vesicoureteral reflux OMIM:616580
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... ORPHA:90349
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Elevated circulating C-reactive pro... ORPHA:449427
Williams Syndrome
Chronic otitis media, Renal insufficiency, Renal duplication, Multiple renal cysts, Renovascular ... ORPHA:904
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Renal insufficiency, Abnormality of the kidney ORPHA:449432
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB... ORPHA:466677
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Recurrent otitis media, H... OMIM:194050
Crimean-Congo Hemorrhagic Fever
Parotitis, Morbilliform rash, Cholecystitis, Elevated circulating creatine kinase concentration, ... ORPHA:99827
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Horseshoe kidney, Vesicoureteral ref... ORPHA:110
Digeorge Syndrome
Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Renal insufficiency, Hypo... OMIM:188400
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Intrauterine growth retardation, Vesicoureteral reflux, Renal insuf... ORPHA:199
Leptospirosis
Acute kidney injury, Uveitis, Hepatitis, Skin rash, Optic neuritis, Cellular urinary casts, Hyper... ORPHA:509
Degcags Syndrome
Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h... OMIM:619488
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Insulinoma
Increased body weight ORPHA:97279
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth... OMIM:107480
Eisenmenger Syndrome
Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Renal insu... ORPHA:97214
Blau Syndrome
Nephropathy, Posterior uveitis, Keratitis, Stage 5 chronic kidney disease, Clear cell renal cell ... ORPHA:90340
Acute Liver Failure
Skin rash, Acute kidney injury, Hepatitis, Hyperammonemia ORPHA:90062
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Growth delay, Stag... ORPHA:2044
Sotos Syndrome
Increased body weight, Tall stature, Overgrowth OMIM:117550
Costello Syndrome
Short stature, Renal insufficiency OMIM:218040
Sotos Syndrome
Renal agenesis, Hypercalcemia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction... ORPHA:821
Retinitis Pigmentosa 74
Obesity OMIM:616562
African Trypanosomiasis
Myelitis, Keratitis, Renal insufficiency, Optic neuritis, Myocarditis, Urinary incontinence, Conj... ORPHA:3385
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Fasciitis, Osteomyelitis, Septic arthritis, Recurrent aspiration pneumoni... ORPHA:642
Pmm2-Cdg
Hypoalbuminemia, Aspiration pneumonia, Reduced thyroxin-binding globulin, Proteinuria, Abnormal r... ORPHA:79318
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Abn... ORPHA:289176
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Abdominal obesity ORPHA:189427
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria OMIM:617140
Alström Syndrome
Chronic kidney disease, Glomerulonephritis, Oligozoospermia, Urinary incontinence, Urinary retent... ORPHA:64
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Polyuria, Hypertriglyceridemia OMIM:606721
Cushing Disease
Increased body weight, Truncal obesity, Abdominal obesity ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Carney Complex
Increased body weight, Tall stature, Abdominal obesity ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Magi2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Magi2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Magi2tm1Grnt PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Magi2tm1Grnt PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Magi2tm47383(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Magi2tm47383(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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