banner
Genes Phenotypes Help, News, Blog

Gene: Glis2 MGI:1932535

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GLIS family zinc finger 2
Synonyms:
Nkl

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Glis2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Bronchiectasis, Elevat... OMIM:619468
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Renal inters... OMIM:614817
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta... OMIM:161900
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Elevated circulating creatine kinase concentration, Focal segment... OMIM:614455
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Senior-Loken Syndrome 4
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Nephrotic syndrome, Proteinu... OMIM:617006
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Senior-Loken Syndrome 1
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating... OMIM:266900
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... OMIM:603278
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro... OMIM:608709
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro... ORPHA:329918
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Renal Hypoplasia
Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent... ORPHA:93101
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... OMIM:617056
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity, Focal segmental glomerulosclerosis OMIM:620425
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia OMIM:222100
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Hypophosphatemia, Proteinuria,... OMIM:618913
Oligomeganephronia
Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a... ORPHA:2260
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease OMIM:602114
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Renal Glucosuria
Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria OMIM:233100
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Motor stereotypy, Hypoalbumi... OMIM:618347
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Hypomagnesemia, ... OMIM:618314
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... OMIM:143880
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Ochoa Syndrome
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic... ORPHA:2704
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Elevated circulating creatin... OMIM:614376
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Frasier Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:136680
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Senior-Loken Syndrome 3
Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome... OMIM:606995
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612925
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hypokalemia, Decreased glomerular fil... OMIM:602522
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... OMIM:617575
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... OMIM:617730
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Mesangial hypercellularity, Elevated circulating C-reactive protein concentration, Cre... OMIM:616414
Nephronophthisis 11
Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613550
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Xanthinuria, Type Ii
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... OMIM:603592
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula... ORPHA:85450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... OMIM:615244
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Galactosemia I
Increased level of galactitol in red blood cells, Galactosuria, Increased level of galactitol in ... OMIM:230400
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Motor stereotypy, Glomerulone... OMIM:619428
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Complement Factor H Deficiency
Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos... OMIM:609814
Senior-Boichis Syndrome
Polydipsia, Agitation, Aggressive behavior, Tubular luminal dilatation, Renal atrophy, Abnormal r... ORPHA:84081
Central Diabetes Insipidus
Polydipsia, Hyponatremia, Nocturia, Anorexia ORPHA:178029
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... ORPHA:567546
Cystinosis
Polydipsia, Hypokalemia, Nephropathy, Proteinuria, Hypophosphatemia, Motor stereotypy, Renal insu... ORPHA:213
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomag... OMIM:613845
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of th... ORPHA:223
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Decreased circulating renin level, Nephrocalcinosis, Abnormal urine sodi... ORPHA:320
Bardet-Biedl Syndrome 16
Recurrent otitis media, Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disea... OMIM:615993
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Frasier Syndrome
Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto... ORPHA:347
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating creatine ... ORPHA:228302
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Megacystis, Polyuria OMIM:304800
Coach Syndrome 3
Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr... OMIM:619113
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Hypokalemia, Renal phosphate wasting, Hypocalcemia,... ORPHA:411634
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Polyphagia, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuria,... ORPHA:251004
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentratio... OMIM:248250
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration... OMIM:607426
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Nephrotic syndrome, Enterocolitis, Mild proteinuria, Focal segmental glomerulosclerosis OMIM:301108
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Nephronophthisis
Renal insufficiency ORPHA:655
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Intestinal inflammation, Proteinuria, Chilblains OMIM:619858
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Patent ductus arteriosus, Stage 5... OMIM:615382
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria OMIM:245900
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia, Nephritis, Renal tubula... OMIM:162000
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Deep dermal perivascular inflam... ORPHA:49041
East Syndrome
Renal salt wasting, Polydipsia, Hypokalemia, Enuresis, Increased circulating renin level, Hypomag... ORPHA:199343
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Renal cyst, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule... ORPHA:839
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat... ORPHA:449395
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... OMIM:254900
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricemia, Renal insufficiency, Arthritis, Uric acid nephrolithiasis, Cr... ORPHA:411536
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Bardet-Biedl Syndrome 9
Polydipsia, Renal insufficiency, Polyphagia OMIM:615986
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Helix Syndrome
Polydipsia, Hypermagnesemia, Polyuria, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insuffi... OMIM:617671
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Nephrolithiasis, Hypercalcemia, Hyperphosphatemia OMIM:617994
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level OMIM:613677
Rhabdomyolysis, Susceptibility To, 1
Abnormal circulating acylcarnitine concentration, Renal insufficiency, Elevated circulating creat... OMIM:620235
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis... OMIM:610984
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Abnormal circulating creatine kinase concentration OMIM:232500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Elevated circulating C-reactive protein concentration, Recurrent urinary ... OMIM:615559
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Proteinuria, Increased serum bile acid concentration, Conjugated hyperbilirub... OMIM:620010
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat... ORPHA:18
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Acute kidney injury, Glomerulopathy, Hypospadias, Hyperuricemia, Renal insufficiency,... ORPHA:93111
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Polydipsia, Hypokalemia, Hypocalciuria, Renal potassium wasting, En... OMIM:612780
Imerslund-Grasbeck Syndrome 2
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Moderate albuminuria OMIM:618882
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency OMIM:256150
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Elevated cir... ORPHA:275555
Arima Syndrome
Polydipsia, Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney... OMIM:243910
Amyloidosis, Familial Visceral
Hematuria, Skin rash, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy OMIM:105200
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria, Gout, Hyperuricemia ORPHA:510
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chr... ORPHA:261222
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Elevated circulating C-reactive protein concentration, Nephrotic syndr... OMIM:619644
Glycogen Storage Disease Ia
Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232200
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis OMIM:152700
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Nephronophthisis 15
Nephronophthisis OMIM:614845
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase co... OMIM:619386
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Calcinosis, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Hypophosphate... OMIM:239200
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Senior-Loken Syndrome 8
Stage 5 chronic kidney disease, Global glomerulosclerosis, Nephronophthisis, Glomerular subepithe... OMIM:616307
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Hypokalemia, Hyperphosphaturia, Glycosuria, Renal F... ORPHA:411629
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Increased blood urea nitrogen, Microscopic hematuria, Abnormal renal p... OMIM:274150
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating C-reactive protein concentration, Malar rash, Elevated circulatin... ORPHA:231111
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephrotic syndrome, Proteinuria,... ORPHA:85445
Proximal Renal Tubular Acidosis
Bicarbonaturia, Low-molecular-weight proteinuria, Global proximal tubulopathy, Polydipsia, Hypoka... ORPHA:47159
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De... ORPHA:3467
Cystinosis, Nephropathic
Polydipsia, Generalized aminoaciduria, Hypophosphatemia, Dysphagia, Stage 5 chronic kidney diseas... OMIM:219800
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Acute kidney injury ORPHA:673
Al Amyloidosis
Abnormality of the kidney, Renal interstitial amyloid deposits, Increased circulating NT-proBNP c... ORPHA:85443
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Acute pancreatitis... OMIM:619487
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infections, Multiple renal cyst... OMIM:613095
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Papillorenal Syndrome
Renal malrotation, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephroli... OMIM:120330
Hyperuricemia, Hprt-Related
Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Renal insufficiency OMIM:300323
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Arthritis, Proteinuria, Renal insufficiency ORPHA:375
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate... OMIM:613090
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Skin rash, Proteinuria, Pneumonia, Elevated circulating creatinine concentr... ORPHA:247691
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency ORPHA:890
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Renal insufficiency ORPHA:28
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Inflammatory abnormality of the sk... ORPHA:94059
Gitelman Syndrome
Polydipsia, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increased ci... OMIM:263800
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis OMIM:619603
Systemic Sclerosis
Myocarditis, Acute kidney injury, Abnormality of the kidney, Arthritis, Elevated circulating crea... ORPHA:90291
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis, Hypokalemia ORPHA:369929
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease ORPHA:3156
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... OMIM:235400
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232220
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricemia, Arthritis, Uric acid nephrolithiasis, Crystalluria, Gout, Hyp... ORPHA:411543
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Thyroiditis, Glomerulonephritis OMIM:619375
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ... ORPHA:470
Renal Tubular Dysgenesis
Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts ORPHA:3033
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Acrorenal Syndrome
Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:971
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... OMIM:619902
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:268200
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Pancreatitis, Hyperuricemia, Tubulointerstitial fibrosis, ... ORPHA:79259
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Glycogen Storage Disease Ic
Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemia, Stomatitis,... OMIM:232240
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency OMIM:611773
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia, Hypokalemia ORPHA:251274
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:29072
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem... OMIM:617729
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocal... ORPHA:99880
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, ... OMIM:241200
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hydronephrosis, Renal insufficiency, Patent ductus arteriosus OMIM:615996
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia OMIM:617564
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Glycosuria, Nephrocalcinosis, Proteinuria, Conjugat... OMIM:613404
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Minimal change glomerulonephritis, Nephrotic range proteinuria, Hyperlipidemia, Foc... ORPHA:1830
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Recurrent pne... OMIM:617303
Parathyroid Carcinoma
Polydipsia, Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocal... ORPHA:143
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Glycogen Storage Disease V
Myoglobinuria, Elevated circulating creatine kinase concentration, Dark urine, Hyperuricemia OMIM:232600
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Glomerular... OMIM:276700
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Hypocalcemia, Recurrent urinary tract infections, Skin rash, Arthritis, M... ORPHA:36234
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Megabladder, Congenital
Multiple glomerular cysts, Fetal megacystis, Hyperechogenic kidneys, Patent ductus arteriosus, St... OMIM:618719
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
46,Xy Sex Reversal 4
Recurrent otitis media, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydron... OMIM:154230
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Liddle Syndrome
Nephropathy, Hypokalemia, Renal insufficiency ORPHA:526
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy OMIM:560000
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Increased urinary potassium, Hypokalemia ORPHA:231580
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy OMIM:166300
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Increased urine alpha-ketoglutarate concentration, Hydroxyprolinuria... ORPHA:79101
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis, Hyperuricemia ORPHA:214
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Hyperuricemia, Multiple glomer... OMIM:137920
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... ORPHA:99879
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Proteinuria, Ami... OMIM:616026
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis OMIM:616239
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin... ORPHA:368
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... OMIM:620085
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Pneumonia, Hematuria, Decreased glomerular filtrati... ORPHA:340
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,... ORPHA:158684
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Elevated circulating long chain fatty acid concentration, Renal cortical microcysts,... OMIM:214100
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass... OMIM:601678
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Patent ductus arteriosus, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Primary Hyperoxaluria Type 2
Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency ORPHA:454
Autoimmune Hepatitis
Sclerosing cholangitis, Acute hepatitis, Thyroiditis, Fulminant hepatitis, Arthritis, Viral hepat... ORPHA:2137
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Abnormal r... OMIM:308940
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Retinitis Pigmentosa 59
Renal insufficiency, Micropenis OMIM:613861
Simple Cryoglobulinemia
Abnormality of the kidney, Arthritis, Viral hepatitis, Nephrotic syndrome, Microscopic hematuria,... ORPHA:91139
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Stage 5 chronic kidney d... OMIM:618061
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... OMIM:300554
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Stage 3 chronic kidney disease OMIM:620366
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Hypocalce... ORPHA:358
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morphology, Renal insufficien... OMIM:137940
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hypercalcemia, Patent ductus arteriosus, Renal insufficiency ORPHA:2123
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Pancreatitis, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disea... OMIM:242900
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Renal amylo... OMIM:191900
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Myh9-Related Disease
Nephritis, Nephropathy, Proteinuria, Renal insufficiency ORPHA:182050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hyperammonemia, Pancreatitis, Renal insufficiency ORPHA:79312
Relapsing Fever
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ... ORPHA:91547
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Hyperlipidemia, Proteinuria ORPHA:369
Lymphatic Filariasis
Abnormality of the kidney, Hematuria, Urethral obstruction, Knee osteoarthritis, Lymphadenitis, N... ORPHA:2035
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
C Syndrome
Renal cortical cysts, Patent ductus arteriosus OMIM:211750
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Erdheim-Chester Disease
Polydipsia, Skin rash, Dysuria, Hydronephrosis, Renal insufficiency, Osteomyelitis ORPHA:35687
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis ORPHA:99931
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Eczematoid dermatitis, Erythroderma, Hepatitis, Glomerulonephritis OMIM:304790
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc... OMIM:614227
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
3-Methylglutaconic aciduria, Renal tubular acidosis, Hyperalaninemia, Elevated circulating creati... ORPHA:324525
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst ORPHA:1692
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H... ORPHA:157
Toxic Epidermal Necrolysis
Polydipsia, Pancreatitis, Dysuria, Dysphagia, Conjunctivitis, Renal insufficiency, Abnormality of... ORPHA:537
Postinfectious Vasculitis
Anorexia, Gastrointestinal inflammation, Pneumonia, Hematuria, Elevated circulating C-reactive pr... ORPHA:48435
Alg1-Cdg
Nephrotic syndrome, Hypoalbuminemia, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerular basement membrane... OMIM:146255
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Cholan... ORPHA:731
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Reduced haptoglobin level, Hemolytic-uremic syndrome, Hyperechogenic kidneys, Proteinuria, Modera... OMIM:301110
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Superficial dermal perivascular inflammatory... ORPHA:284426
Nail-Patella Syndrome
Hematuria, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis OMIM:161200
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas... OMIM:609057
Laurence-Moon Syndrome
Displacement of the urethral meatus, Renal insufficiency, Hypoplasia of penis ORPHA:2377
Orthostatic Hypotension 1
Increased blood urea nitrogen, Nocturia, Hypomagnesemia, Elevated circulating dihydroxyphenylacet... OMIM:223360
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Pol... ORPHA:228308
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Pro... OMIM:301050
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hyperbilirubinemia,... ORPHA:447
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Psoriasiform dermatitis, Hypocalcemia, Thyroiditis, Pneumonia, ... ORPHA:37042
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:251300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine level, Rhinitis, Nocturia, Elevated circ... ORPHA:230
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Myoglobinuria ORPHA:713
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Increased... OMIM:617595
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis OMIM:616629
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration... ORPHA:542323
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency ORPHA:397715
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hypouricemia, Hy... OMIM:227810
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury ORPHA:57
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Nephrocalcinosis, ... OMIM:130650
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Tubulointerstitial fibrosis, Rheumatoid arthritis, Recurrent sinusitis, P... OMIM:607944
Goodpasture Syndrome
Glomerular crescent formation, Increased blood urea nitrogen, Cylindruria, Proteinuria, Macroscop... OMIM:233450
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ... ORPHA:488627
Cryoglobulinemic Vasculitis
Glomerulopathy, Hematuria, Arthritis, Viral hepatitis, Proteinuria, Renal insufficiency, Keratoco... ORPHA:91138
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Panhypophysitis
Hyposthenuria, Hyponatremia, Hashimoto thyroiditis, Polydipsia ORPHA:95513
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Pseudo-Torch Syndrome 3
Lymphadenitis, Acute kidney injury, Increased circulating ferritin concentration, Proteinuria OMIM:618886
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Renal dysplasia, Hypo... OMIM:618183
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency ORPHA:35710
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Periodontitis, Moderate albuminuria OMIM:619269
Heme Oxygenase 1 Deficiency
Hematuria, Elevated circulating C-reactive protein concentration, Nephritis, Proteinuria, Increas... OMIM:614034
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Cystic Echinococcosis
Hyperbilirubinemia, Membranous nephropathy, Renal cyst ORPHA:400
Joubert Syndrome 20
Renal cyst OMIM:614970
Wolfram Syndrome
Polydipsia, Recurrent urinary tract infections, Dysuria, Nephropathy, Abnormality of the urinary ... ORPHA:3463
Papa Syndrome
Myositis, Arthritis, Crohn's disease, Pustule, Proteinuria, Acne, Increased inflammatory response ORPHA:69126
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Pancreatitis, Renal insufficiency ORPHA:27
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration ORPHA:98895
Rabson-Mendenhall Syndrome
Polydipsia, Hypokalemia, Long penis, Increased C-peptide level, Nephrocalcinosis ORPHA:769
Babesiosis
Anorexia, Renal insufficiency ORPHA:108
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Proteinuria, Nephropathy OMIM:209010
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Renal insufficiency, Abnormality of the urinary system, Urinary bl... ORPHA:79408
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Legionnaires Disease
Anorexia, Myocarditis, Hematuria, Pancreatitis, Hepatitis, Hyponatremia, Pericarditis, Endocardit... ORPHA:549
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Proteinuria, Conjunctivitis, Renal insufficiency, Uveitis ORPHA:90321
Cocaine Intoxication
Acute kidney injury, Agitation, Hematuria, Colitis, Elevated circulating creatine kinase concentr... ORPHA:90068
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:600740
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Thymoma
Myositis, Rheumatoid arthritis, Ulcerative colitis, Glomerulonephritis ORPHA:99867
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypokalemia, Generali... ORPHA:3337
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Isolated Permanent Neonatal Diabetes Mellitus
Abnormality of the upper urinary tract, Glycosuria, Moderate albuminuria, Ketonuria, Renal tubula... ORPHA:99885
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hematuria, Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleriti... ORPHA:36412
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Familial Cold Urticaria
Polydipsia, Arthritis, Conjunctivitis ORPHA:47045
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Hematuria, Hyperuricemia, Elevated circulating creatine kinase co... OMIM:232800
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Skin rash, Intermediate ... ORPHA:91500
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent urinary tra... ORPHA:93598
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Xanthinuria, Type I
Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr... OMIM:278300
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary c... OMIM:219730
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Amyloidosis, Finnish Type
Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis... OMIM:105120
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Systemic Lupus Erythematosus
Anorexia, Cheilitis, Hematuria, Pyuria, Malar rash, Arthritis, Discoid lupus rash, Proteinuria, S... ORPHA:536
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Impulsivity, Abnormality of the uret... ORPHA:3027
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Unconjugated hyperbilirubi... ORPHA:90038
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Bronchiectasis, Eczematoid dermatitis, Membranoproliferative g... OMIM:615816
Systemic Capillary Leak Syndrome
Myocarditis, Abnormal renal tubule morphology, Pancreatitis, Pericarditis, Oliguria, Renal insuff... ORPHA:188
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pediatric Systemic Lupus Erythematosus
Hematuria, Malar rash, Arthritis, Skin rash, Discoid lupus rash, Myositis, Abnormality of the uri... ORPHA:93552
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Chronic kidney disease OMIM:602152
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polycystic kidney dysplasia, Renal cortical microcysts, Hypospadias, Renal cyst OMIM:614866
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Agitation, Hypophosphatemic rickets, Glycosuria, Proteinuria, Abnormal circulating fatty-acid con... ORPHA:263455
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Increased inflammatory re... ORPHA:183
Majeed Syndrome
Glomerulopathy, Synovitis, Microscopic hematuria, Pustule, Osteomyelitis, Proteinuria, Inflammato... ORPHA:77297
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Renal insufficiency, Hypospadias, Nephropathy OMIM:194072
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia OMIM:177200
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria OMIM:603585
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst OMIM:617478
Axial Osteomalacia
Renal cyst OMIM:109130
Alagille Syndrome 1
Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux... OMIM:118450
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Mild proteinuria, Increased serum pyruvate, Hyperalaninemia, Renal insufficiency OMIM:619147
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Renal hypoplasia, Renal insufficiency, Hypoplasia of penis ORPHA:85321
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Elevated circulating C-reactive protein concentration, Minimal change glomerulonephritis, Myositi... OMIM:620565
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney OMIM:266810
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... OMIM:256550
Microscopic Polyangiitis
Glomerulopathy, Hematuria, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericardi... ORPHA:727
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Renal Tubular Dysgenesis
Renotubular dysgenesis, Anuria, Abnormality of the urinary system OMIM:267430
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine, Elevated circulating creatine kinase concentration, Decreased pla... ORPHA:228305
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Gastrointestinal inflammation, ... ORPHA:95455
Meningococcal Meningitis
Anorexia, Elevated circulating C-reactive protein concentration, Skin rash, Renal insufficiency, ... ORPHA:33475
Whipple Disease
Polydipsia, Myocarditis, Anorexia, Myositis, Arthritis, Hyponatremia, Pericarditis, Infectious en... ORPHA:3452
Multiple Myeloma
Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Hyperproteine... ORPHA:29073
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Patent ductus arteriosus, Recurrent urinary tract infections, Renal duplication, ... ORPHA:33001
Melas
Proximal tubulopathy, Focal segmental glomerulosclerosis, Proteinuria, Recurrent pancreatitis, Ne... ORPHA:550
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c... OMIM:620300
Wild Type Attr Amyloidosis
Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency ORPHA:330001
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Acute kidney injury ORPHA:140896
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Hypercalcemia, Proteinuria OMIM:171420
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Patent ductus arteriosus, Renal insufficiency ORPHA:86818
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Pgm3-Cdg
Chronic otitis media, Esophagitis, Atopic dermatitis, Eczematoid dermatitis, Chronic sinusitis, B... ORPHA:443811
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Hepatitis, Nephrotic syndrome, Pustule, Infectious encephali... ORPHA:139402
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Bilateral renal agenesis, Proteinuria OMIM:191830
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Hypospadias, Galactosuria OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated creatine kinase af... ORPHA:159
Immunoglobulin A Vasculitis
Anorexia, Glomerulopathy, Hematuria, Arthritis, Skin rash, Episcleritis, Pustule, Proteinuria, Or... ORPHA:761
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Pediatric-Onset Graves Disease
Polydipsia, Hyperactivity, Polyphagia, Episcleritis, Keratitis ORPHA:525731
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia OMIM:613730
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst ORPHA:445038
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Decreased circulating carnitine concentrat... OMIM:201475
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype... OMIM:211900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Homocystinuria... OMIM:277400
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hyperammonemia, Stage 5 chronic kidney dis... OMIM:251000
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Gastritis, Renal tubular dysfunction,... ORPHA:31826
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency OMIM:247410
Brucellosis
Anorexia, Myocarditis, Hip osteoarthritis, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia ORPHA:403
Wagro Syndrome
Agitation, Compulsive behaviors, Polyphagia, Proteinuria, Nephroblastoma, Aggressive behavior OMIM:612469
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary incontinence, Hypotr... OMIM:618885
Variant Abeta2M Amyloidosis
Renal amyloidosis, Chronic kidney disease ORPHA:314652
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Hypona... ORPHA:247353
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Cholera
Acute kidney injury, Hypokalemia, Hypocalcemia, Aspiration pneumonia, Hyponatremia, Abnormality o... ORPHA:173
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration OMIM:619685
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Scrub Typhus
Myocarditis, Skin rash, Anterior uveitis, Renal insufficiency, Infectious encephalitis ORPHA:83317
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Nephritis, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal ... OMIM:208500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Compulsive behaviors, Enuresis, Polyphagia, Hyponatremia, Self-injuri... ORPHA:293987
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemoglobinuria OMIM:266120
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Hyperuricemia, Uric acid nephrolithiasis, Urolithiasis, Gout, Hyperuricosuria, Renal... OMIM:300661
Enamel-Renal Syndrome
Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure... ORPHA:1031
Fabry Disease
Urinary mulberry cells, Proteinuria, Lipiduria, Renal insufficiency OMIM:301500
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Aspiration pneumonia, Keratitis, Proteinuria, Dysphagia, Chronic kidney disease, Stage... ORPHA:1018
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Snakebite Envenomation
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Acute kidney injury ORPHA:449285
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Urinary incontinence, Hyperuricemia, Hypocalcemia, ... ORPHA:94093
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Primary Sjögren Syndrome
Abnormality of the kidney, Keratoconjunctivitis sicca, Arteritis, Chronic active hepatitis, Myosi... ORPHA:289390
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Chronic kidney disease, Hypoalbuminemia, Renal ... ORPHA:1667
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Erythroderma ORPHA:313
Boutonneuse Fever
Skin rash, Renal insufficiency, Maculopapular exanthema ORPHA:83313
Malakoplakia
Hematuria, Skin rash, Dysuria, Urinary hesitancy, Urinary urgency, Inflammatory abnormality of th... ORPHA:556
Hyperoxaluria, Primary, Type I
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Elevated urinary gly... OMIM:259900
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Recurrent otitis media, Microscopic hematuria, Moderate... OMIM:619525
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis OMIM:231530
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Nephrocalcin... ORPHA:416
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Arthritis, Renal insufficiency, Dysphagia ORPHA:220393
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
Pheochromocytoma
Elevated urinary norepinephrine level, Hypercalcemia, Proteinuria, Renal artery stenosis OMIM:171300
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hypokalemia, Hyperprostaglandinuria, Hypercalciuria, Imp... ORPHA:89938
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Recurrent skin infections, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Aminoaciduria, Renal hypoplasia, Lacticaciduria OMIM:604273
Mitochondrial Trifunctional Protein Deficiency 1
Hyperammonemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:609015
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Myoglobinuria, Abnormal cir... ORPHA:71212
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Elevated circulating C-reactive protein co... ORPHA:829
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Chordee, Renal dysplasia, Elevated amniotic fluid alpha-fetoprotein, Renal insuffici... ORPHA:96179
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Recurrent otitis media ORPHA:2728
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Mercury Poisoning
Anorexia, Acute kidney injury, Interstitial pneumonitis, Hypokalemia ORPHA:330021
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Unilateral renal atrophy, Nephritis, Pyelonephritis OMIM:314300
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis OMIM:619127
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration, Hypokalemia OMIM:619377
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis, Motor stereotypy OMIM:610688
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease OMIM:618821
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Neurogenic bladder... ORPHA:79473
Xfe Progeroid Syndrome
Hypoalbuminemia, Renal insufficiency, Proteinuria OMIM:610965
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Kleefstra Syndrome
Chronic otitis media, Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydron... ORPHA:261494
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kid... OMIM:609049
Lassa Fever
Oliguria, Dysphagia, Conjunctivitis ORPHA:99824
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Ohdo Syndrome
Proteinuria OMIM:249620
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,... OMIM:619743
Porphyria Cutanea Tarda
Increased urinary porphobilinogen, Decreased circulating hepcidin concentration, Porphyrinuria, R... ORPHA:101330
Autoimmune Lymphoproliferative Syndrome
Gastritis, Recurrent aphthous stomatitis, Panniculitis, Thyroiditis, Colitis, Arthritis, Hepatiti... ORPHA:3261
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Elevated circulating creatine kinase concentration, H... OMIM:251900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... OMIM:612736
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic kidney disease, Renal insufficiency ORPHA:469
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Pericarditis, Proteinuria, Hypoalbuminemia,... OMIM:212065
Wilson Disease
Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hypour... OMIM:277900
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Granulomatosis With Polyangiitis
Chronic otitis media, Glomerulopathy, Prostatitis, Hematuria, Pancreatitis, Elevated circulating ... ORPHA:900
Vacterl Association With Hydrocephalus
Renal hypoplasia OMIM:276950
Acute Adrenal Insufficiency
Hyperkalemia, Renal salt wasting, Anorexia, Hyperuricemia, Increased circulating renin level, Hyp... ORPHA:95409
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Patent ductus arteriosus, Nephrotic syndrome, Proteinuria, Conjunctivitis, Hypoa... ORPHA:505248
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Zttk Syndrome
Polyuria, Horseshoe kidney, Unilateral renal agenesis, Patent ductus arteriosus OMIM:617140
Colchicine Poisoning
Myocarditis, Hypokalemia, Hypocalcemia, Oliguria, Hyponatremia, Hypomagnesemia, Hypophosphatemia,... ORPHA:31824
Relapsing Polychondritis
Myocarditis, Glomerulopathy, Hematuria, Recurrent aphthous stomatitis, Inflammatory abnormality o... ORPHA:728
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Lead Poisoning
Anorexia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Skin ... ORPHA:330015
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease OMIM:613819
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyp... OMIM:616878
Familial Mediterranean Fever
Pancreatitis, Arthritis, Skin rash, Nephrotic syndrome, Pericarditis, Erysipelas, Nephrocalcinosi... ORPHA:342
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Renal insufficiency, Hepatitis ORPHA:440713
Hand-Foot-Genital Syndrome
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruct... OMIM:140000
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:607155
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Martin-Probst Syndrome
Chordee, Micropenis, Proteinuria, Renal insufficiency OMIM:300519
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp... ORPHA:423
Fabry Disease
Abnormal circulating lipid concentration, Anorexia, Abnormal renal tubule morphology, Glomerulopa... ORPHA:324
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Renal Nutcracker Syndrome
Hematuria, Renal artery stenosis, Proteinuria, Microscopic hematuria ORPHA:71273
Feingold Syndrome Type 1
Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Patent ductus arteri... ORPHA:391641
Nail-Patella Syndrome
Abnormality of the kidney, Hematuria, Arthritis, Nephrotic syndrome, Thickened glomerular basemen... ORPHA:2614
Castleman Disease
Hematuria, Ureteral obstruction, Renal insufficiency, Elevated circulating C-reactive protein con... ORPHA:160
Spondyloenchondrodysplasia
Hematuria, Arthritis, Skin rash, Proteinuria, Chronic kidney disease, Pneumonia, Juvenile rheumat... ORPHA:1855
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Panniculitis, Acute pancreatitis,... ORPHA:79086
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria OMIM:618250
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Avian Influenza
Acute kidney injury, Myelitis, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:454836
Shigellosis
Anorexia, Urethritis, Acute kidney injury, Myocarditis, Hemolytic-uremic syndrome, Pneumonia, Acu... ORPHA:810
Pseudo-Torch Syndrome 1
Renal insufficiency, Patent ductus arteriosus OMIM:251290
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal medullary pyramid morphology ORPHA:79243
Bresek Syndrome
Renal dysplasia, Renal hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder ORPHA:85284
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Dysphagia, Recurrent pancreatitis, Hypercholesterolemia OMIM:606721
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Hemoglobinuria, Unconjugated hyperbil... OMIM:300908
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating C-reactive protein concentration, Skin rash, Fulminant hepatiti... ORPHA:319213
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Nephrocalcinosis, Hypophosphatemia, Multiple renal cysts, Nephro... ORPHA:534
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Ureteral agenesis, Hyperechogenic kidneys OMIM:617914
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation OMIM:618541
Refsum Disease
Renal insufficiency ORPHA:773
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Micropenis, Patent ductus arteriosus, Renal insufficiency OMIM:617159
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Myocarditis, Pneumonia, Pancreatitis, Hypocalcemia, Acute coli... ORPHA:544482
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Renal tubular atrophy, Reduced renal corticomedullary d... OMIM:208085
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Patent ductus arteriosus OMIM:608104
Joubert Syndrome With Oculorenal Defect
Renal insufficiency, Nephropathy ORPHA:2318
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Hepatitis, Hemoglobinuria OMIM:194380
Ogden Syndrome
Enlarged kidney, Recurrent otitis media, Hyperbilirubinemia, Polycystic kidney dysplasia, Eczemat... OMIM:300855
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polycystic kidney dysplasia, Ureteral atresia, Patent ductus arteriosus, Renal d... OMIM:208540
Leukocyte Adhesion Deficiency
Perianal abscess, Chronic oral candidiasis, Vaginitis, Hemolytic-uremic syndrome, Severe periodon... ORPHA:2968
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Proteinuria, Micropenis OMIM:619471
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Stomatiti... ORPHA:79282
Tafro Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration ORPHA:457077
Joubert Syndrome With Renal Defect
Renal insufficiency, Nephropathy ORPHA:220497
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Hemolytic-uremic syndrome, Hypospadias, Renal insufficiency OMIM:611209
Cornelia De Lange Syndrome 1
Pneumonia, Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal c... OMIM:122470
Hellp Syndrome
Acute kidney injury, Proteinuria, Hemoglobinuria ORPHA:244242
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Renal insufficiency, Horseshoe kidney ORPHA:140952
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Marburg Hemorrhagic Fever
Anorexia, Pancreatitis, Hypokalemia, Arthritis, Skin rash, Hyperamylasemia, Elevated circulating ... ORPHA:99826
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Tuberous Sclerosis Complex
Abnormality of the kidney, Hyperactivity, Polycystic kidney dysplasia, Renal cell carcinoma, Rena... ORPHA:805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Patent ductus arteriosus... OMIM:619351
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria, Keratoconjunctivitis sicca ORPHA:85448
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Glycosuria, Nephritis, ... ORPHA:2298
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen... ORPHA:322
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome OMIM:268315
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Yellow Fever
Acute kidney injury, Hyperbilirubinemia, Anuria, Skin rash, Acute pancreatitis, Elevated circulat... ORPHA:99829
Brain-Lung-Thyroid Syndrome
Hypospadias, Hyperactivity, Vesicoureteral reflux, Compulsive behaviors, Abnormal drinking behavi... ORPHA:209905
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation, Patent ductus arteriosus OMIM:617397
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Renal insufficiency, Elevated circulating creat... OMIM:309000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase... ORPHA:79240
Acute Generalized Exanthematous Pustulosis
Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltratio... ORPHA:293173
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Giant Cell Arteritis
Anorexia, Hematuria, Arthritis, Pericarditis, Renal insufficiency ORPHA:397
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Chronic active hepa... OMIM:203800
Pyomyositis
Myositis, Recurrent cutaneous abscess formation, Renal insufficiency ORPHA:764
Kleefstra Syndrome Due To 9Q34 Microdeletion
Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis ORPHA:96147
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Meckel Syndrome, Type 7
Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Multiple glomerular cysts, Patent d... OMIM:267010
Distal Deletion 10Q
Acute kidney injury, Vesicoureteral reflux, Enuresis, Functional abnormality of the bladder, Pate... ORPHA:96148
Stevens-Johnson Syndrome
Pancreatitis, Dysuria, Dysphagia, Conjunctivitis, Renal insufficiency, Abnormality of the urethra ORPHA:36426
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Renal insufficiency, Colitis OMIM:203300
Matthew-Wood Syndrome
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Renal cyst, Glycosuria, Hypomagnesemia, Hypophosphate... ORPHA:699
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase... ORPHA:264580
Sepsis In Premature Infants
Oliguria, Enterocolitis, Reversible renal failure, Elevated circulating C-reactive protein concen... ORPHA:90051
Glycogen Storage Disease Xii
Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase concentration... OMIM:611881
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal phosphate wasting, Hyperphosphaturia, Enthesitis, Abnormality of ... ORPHA:289176
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys OMIM:620047
Cranioectodermal Dysplasia 4
Stage 5 chronic kidney disease, Recurrent pneumonia OMIM:614378
Sickle Cell Disease
Hematuria, Renal insufficiency OMIM:603903
Serotonin Syndrome
Acute kidney injury, Agitation, Restlessness ORPHA:43116
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis ORPHA:35858
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Dysphagia, Chronic kidney disease ORPHA:25
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, Nephrotic synd... OMIM:249100
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Patent ductus arteriosus, Vesicoureteral reflux, Hypospadias, Renal atrophy OMIM:618659
Waldenström Macroglobulinemia
Anorexia, Renal insufficiency ORPHA:33226
Aneurysm Of Sinus Of Valsalva
Oliguria, Bacterial endocarditis ORPHA:1054
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency OMIM:226980
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Cockayne Syndrome
Urinary incontinence, Unilateral renal agenesis, Hyperuricemia, Malar rash, Neurogenic bladder, N... ORPHA:191
Behçet Disease
Anorexia, Glomerulopathy, Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, ... ORPHA:117
Arteriosclerosis, Severe Juvenile
Chronic kidney disease OMIM:208060
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Lysinuric Protein Intolerance
Oroticaciduria, Pancreatitis, Hyperammonemia, Hyperlysinuria, Hypolysinemia, Stage 5 chronic kidn... OMIM:222700
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Acute Interstitial Pneumonia
Bronchiectasis, Elevated circulating creatinine concentration, Elevated circulating C-reactive pr... ORPHA:79126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Patent ductus arter... OMIM:615398
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Orofaciodigital Syndrome Type 1
Chronic otitis media, Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Meckel Syndrome, Type 6
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst OMIM:612284
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Uri... ORPHA:90324
Kawasaki Disease
Myocarditis, Cheilitis, Elevated circulating C-reactive protein concentration, Arthritis, Skin ra... ORPHA:2331
Mody
Glycosuria, Nephropathy, Renal cyst, Abnormality of the kidney ORPHA:552
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Transketolase Deficiency
Patent ductus arteriosus, Renal cyst, Increased level of ribose in urine ORPHA:488618
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease, Hyperlipidemia OMIM:608612
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Pyelonephritis OMIM:181270
Hermansky-Pudlak Syndrome
Anorexia, Renal insufficiency ORPHA:79430
Hardikar Syndrome
Hydroureter, Cholangitis, Patent ductus arteriosus, Hyperbilirubinemia, Recurrent urinary tract i... OMIM:301068
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Zygomycosis
Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Hepatitis, Sinusitis... ORPHA:73263
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Coccidioidomycosis
Morbilliform rash, Abnormality of the kidney, Pneumonia, Pancreatitis, Panniculitis, Abnormality ... ORPHA:228123
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Biliary, Renal, Neurologic, And Skeletal Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Hyperbilirubinemia, Medullary nephrocalcinos... OMIM:619534
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Renal agenesis, Rena... OMIM:617666
Neurooculorenal Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Stage 2 chronic kidney disease, Hyperechogen... OMIM:620305
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Cranioectodermal Dysplasia 2
Cholangitis, Hyperbilirubinemia, Renal cyst, Recurrent pneumonia, Patent ductus arteriosus, Renal... OMIM:613610
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati... ORPHA:466650
Au-Kline Syndrome
Vesicoureteral reflux, Hydronephrosis, Chronic kidney disease, Attention deficit hyperactivity di... OMIM:616580
Williams Syndrome
Abnormal circulating lipid concentration, Chronic otitis media, Hypoplasia of penis, Nephrocalcin... ORPHA:904
Alström Syndrome
Hypertriglyceridemia, Detrusor sphincter dyssynergia, Urinary incontinence, Pancreatitis, Recurre... ORPHA:64
Scorpion Envenomation
Myocarditis, Acute kidney injury, Increased circulating NT-proBNP concentration, Hypokalemia, Acu... ORPHA:466677
Crimean-Congo Hemorrhagic Fever
Anorexia, Morbilliform rash, Agitation, Myocarditis, Hematuria, Parotitis, Acute pancreatitis, El... ORPHA:99827
Gaucher Disease
Decreased HDL cholesterol concentration, Hematuria, Elevated circulating C-reactive protein conce... ORPHA:355
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Cockayne Syndrome B
Micropenis, Proteinuria, Renal insufficiency OMIM:133540
Holoprosencephaly
Hyponatremia, Abnormality of the urinary system, Proteinuria, Hypoplasia of penis ORPHA:2162
Cockayne Syndrome A
Micropenis, Proteinuria, Renal insufficiency OMIM:216400
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma... ORPHA:2473
Listeriosis
Myocarditis, Acute kidney injury, Pyelonephritis, Arteritis, Pericarditis, Pustule, Septic arthri... ORPHA:533
Aymé-Gripp Syndrome
Pericarditis, Proteinuria, Patent ductus arteriosus ORPHA:1272
Leptospirosis
Anorexia, Acute kidney injury, Optic neuritis, Skin rash, Cellular urinary casts, Pericarditis, H... ORPHA:509
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Recurrent pneumonia, Inflammatory abnorm... OMIM:102700
Cranioectodermal Dysplasia 1
Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chronic kidney dise... OMIM:218330
Primary Sclerosing Cholangitis
Pancreatitis, Thyroiditis, Hepatitis, Ulcerative colitis, Hypoalbuminemia, Renal insufficiency, U... ORPHA:171
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Motor stereotypy, Patent ductus arteriosus OMIM:616682
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis, Patent... OMIM:618460
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Prostatitis, Renal insufficiency, Cholangitis ORPHA:449432
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal dysplasia, Renal cyst, Reduced... OMIM:266920
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cell carcinoma, Renal angiomyolipoma, Re... OMIM:613254
Sarcoidosis
Keratoconjunctivitis sicca, Maculopapular exanthema, Hypercalciuria, Parotitis, Nephrolithiasis, ... ORPHA:797
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts OMIM:193300
Joubert Syndrome 14
Renal cyst OMIM:614424
Williams-Beuren Syndrome
Obsessive-compulsive trait, Recurrent otitis media, Renal insufficiency, Hypercalciuria, Pelvic k... OMIM:194050
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Acute Liver Failure
Acute kidney injury, Agitation, Skin rash, Hepatic periportal necrosis, Hyperammonemia, Hepatocel... ORPHA:90062
Digeorge Syndrome
Recurrent otitis media, Unilateral renal agenesis, Patent ductus arteriosus, Hypocalcemia, Seborr... OMIM:188400
Degcags Syndrome
Abnormal renal medulla morphology, Hypospadias, Oral-pharyngeal dysphagia, Patent ductus arterios... OMIM:619488
Fanconi Anemia
Renal hypoplasia/aplasia, Hydroureter, Abnormal preputium morphology, Hypospadias, Patent ductus ... ORPHA:84
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst, Patent ductus arteriosus OMIM:617260
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Micropenis, Azotemia OMIM:619321
Townes-Brocks Syndrome
Abnormality of the kidney, Hypospadias, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Patent ductus ... OMIM:618454
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... OMIM:146510
Floating-Harbor Syndrome
Abnormal temper tantrums, Hypospadias, Polycystic kidney dysplasia, Compulsive behaviors, Renal c... ORPHA:2044
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Neurogenic bl... ORPHA:110
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Nephroblastoma, Micropenis OMIM:257300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Patent ductus arteriosus OMIM:616300
Tuberous Sclerosis 1
Renal cell carcinoma, Renal angiomyolipoma, Renal cyst OMIM:191100
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Renal ... OMIM:107480
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula OMIM:236700
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Unconjugated hyperbilirubinemia ORPHA:232
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Patent ductus arteriosus, Re... ORPHA:369837
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst OMIM:610199
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Impulsivity, Recurrent aspiration pneumonia, Dysphagia, Chronic kidne... ORPHA:642
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Compulsive... ORPHA:199
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating C-reactive pr... ORPHA:97214
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Patent ductus ... ORPHA:464311
Sotos Syndrome
Chronic otitis media, Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Ves... ORPHA:821
Alveolar Echinococcosis
Hepatic cysts, Abnormal bladder morphology, Pancreatic cysts, Renal cyst ORPHA:284
Blau Syndrome
Skin rash, Posterior uveitis, Synovitis, Pericarditis, Clear cell renal cell carcinoma, Keratitis... ORPHA:90340
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Patent ductus ... ORPHA:464306
African Trypanosomiasis
Myocarditis, Urinary incontinence, Iritis, Myelitis, Optic neuritis, Pericarditis, Keratitis, Con... ORPHA:3385
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Costello Syndrome
Renal insufficiency OMIM:218040
Hajdu-Cheney Syndrome
Polycystic kidney dysplasia, Hypospadias, Renal cyst, Patent ductus arteriosus OMIM:102500
Pmm2-Cdg
Abnormal renal tubule morphology, Reduced thyroxin-binding globulin, Aspiration pneumonia, Nephro... ORPHA:79318
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst, Patent ductus arteriosus OMIM:117650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst, Patent ductus arteriosus OMIM:616975
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collecting system, Re... OMIM:270400
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis OMIM:229850
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Schinzel-Giedion Syndrome
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephrosis, Nephroblasto... ORPHA:798
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis ORPHA:93271
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hypospadias, Renal cyst, Hydronephrosis, Patent ductus arteriosus, Nephroblastom... OMIM:312870

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 Glis2

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 Glis2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ring1A and Ring1B inhibit expression of Glis2 to maintain murine MOZ-TIF2 AML stem cells. Blood (January 2018) Glis2tm1a(EUCOMM)Hmgu 29371181

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
Glis2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Glis2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Glis2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Glis2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Glis2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter