Gene: Umod MGI:102674

Gene Summary

Name:

uromodulin

Synonyms:

Urehd1, uromucoid, Tamm-Horsfall glycoprotein, urehr4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased hemoglobin content	Umod^urehr4	HOM	Early adult	2.63×10^-05
increased blood urea nitrogen level	Umod^urehr4	HOM	Early adult	8.76×10^-29
decreased hematocrit	Umod^urehr4	HOM	Early adult	4.06×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Umod 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.

Human diseases associated with Umod (1 diseases)
Human diseases predicted to be associated with Umod (2387 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1		Renal tubular atrophy, Hyperuricemia, Decreased glomerular filtration rate, Renal insufficiency, ...	OMIM:162000

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

Disease	Matching phenotypes	Source
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Candidiasis, Familial, 4	Onychomycosis, Recurrent vulvovaginal candidiasis	OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo...	ORPHA:70592
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease, Focal segmental glomer...	OMIM:613092
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti...	OMIM:161900
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent herpes, Recurr...	OMIM:614372
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Idiopathic Hypercalciuria	Calcium oxalate nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Para...	ORPHA:2197
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet...	OMIM:308990
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins...	OMIM:310468
Hypercalcemia, Infantile, 2	Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalc...	OMIM:616963
Nephrotic Syndrome, Type 6	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:614196
Immunodeficiency 31A	BCGitis, Recurrent mycobacterium avium complex infections, Recurrent viral infections, Herpes sim...	OMIM:614892
Interstitial Nephritis, Karyomegalic	Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub...	OMIM:614817
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler...	OMIM:615573
Uridine-Cytidineuria	Elevated urinary cytidine, Elevated urinary uridine level	OMIM:618477
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency	OMIM:611771
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria...	OMIM:614131
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Nephrocalcinosis, Renal magnesium wasting, Episodic hypokalemia, Renal potassium wasting, Hypomag...	ORPHA:564178
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Neuroblastoma	Elevated urinary catecholamines	ORPHA:635
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Dent Disease 2	Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating aspartate aminot...	OMIM:300555
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru...	OMIM:619201
Senior-Loken Syndrome 1	Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,...	OMIM:266900
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Nephrocalcinosis, Chronic kidney disease, Renal magnesium was...	OMIM:248190
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien...	ORPHA:411536
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Hypercalciuria, Medullary nephrocalcinosis	OMIM:617993
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt...	ORPHA:94088
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort...	OMIM:611555
Nephrotic Syndrome, Type 18	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:301028
Nephrotic Syndrome, Type 24	Podocyte foot process effacement, Focal segmental glomerulosclerosis, Renal cortical hyperechogen...	OMIM:619263
Focal Segmental Glomerulosclerosis 8	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:616032
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Bronchiectasis, Pol...	OMIM:619468
Nephrotic Syndrome, Type 2	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyperlipidemia, Focal segmental ...	OMIM:600995
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia	OMIM:612286
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Hemoglobin D Disease	Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co...	ORPHA:90039
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Chronic kidney disease, Ren...	OMIM:248250
Medullary Sponge Kidney	Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria	ORPHA:1309
Focal Segmental Glomerulosclerosis 10	Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit...	OMIM:256020
Focal Segmental Glomerulosclerosis 2	Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se...	OMIM:603965
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Hypouricemia, Renal, 1	Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hypouricemia, Hyperuricosuria, Renal...	OMIM:220150
Hyperuricemic Nephropathy, Familial Juvenile, 3	Renal insufficiency, Hyperuricemia, Abnormal renal insterstitial morphology, Impaired renal conce...	OMIM:614227
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria, Hyperphosphaturia, Hyper...	ORPHA:99879
Type 1 Diabetes Mellitus	Polyphagia, Diabetes mellitus, Polyuria, Hyperglycemia, Polydipsia, Decreased level of 1,5 anhydr...	OMIM:222100
Nephrotic Syndrome, Type 17	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:618176
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros...	OMIM:616002
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Polyuria, Hypercal...	OMIM:143880
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis	OMIM:613944
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent viral infections,...	OMIM:611521
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting	OMIM:612287
Nephronophthisis 7	Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611498
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased urinary potassiu...	OMIM:607364
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:620049
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis	OMIM:613312
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia	OMIM:300323
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypokalemia, Renal potassium wasting, Polyuria, Hypoma...	OMIM:618314
Dent Disease	Renal hypophosphatemia, Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney dise...	ORPHA:1652
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Increased ...	OMIM:613090
Glomerulopathy With Fibronectin Deposits 2	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti...	OMIM:601894
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ...	OMIM:620056
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien...	ORPHA:411543
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria	OMIM:239199
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Hypercalciuria	OMIM:602722
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien...	ORPHA:79233
Fanconi Renotubular Syndrome 3	Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat...	OMIM:615605
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Renal Caliceal Diverticuli-Deafness Syndrome	Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm...	ORPHA:2838
Senior-Loken Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:609254
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate...	OMIM:618061
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Glomerulopathy With Fibronectin Deposits 1	Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:137950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ...	OMIM:174000
Orthostatic Hypotension 2	Decreased glomerular filtration rate, Orthostatic hypotension	OMIM:618182
Idiopathic Non-Lupus Full-House Nephropathy	Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi...	ORPHA:567544
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria	OMIM:607832
Ficolin 3 Deficiency	Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat...	OMIM:613860
Nephrotic Syndrome, Type 3	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc...	OMIM:610725
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Global glomerulosclerosis, Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular ...	OMIM:602522
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Hyperp...	OMIM:601198
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Erythroid hypoplasia, Anemia	OMIM:618312
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Decreased glomerular filtration rate, Elevated circulating creatinine concentration	OMIM:242530
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Glycosuria, Renal insufficiency, Hypokalemia, Renal tubular dysfunction, Impair...	OMIM:134600
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy	OMIM:182690
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Renal insufficiency, Elevated circu...	ORPHA:228302
Renal Glucosuria	Polyphagia, Enuresis nocturna, Glycosuria, Polydipsia, Polyuria	OMIM:233100
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia	ORPHA:2668
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Hyperuricemia, Decreased glomerular filtration rate, Renal insufficiency, ...	OMIM:162000
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease, Elevated hepatic tra...	OMIM:602114
Dent Disease 1	Microscopic hematuria, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphat...	OMIM:300009
Renal Hypoplasia, Bilateral	Microscopic hematuria, Proteinuria, Small for gestational age, Glycosuria, Chronic kidney disease...	ORPHA:97362
Nephrotic Syndrome, Type 22	Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Primary Membranoproliferative Glomerulonephritis	Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ...	ORPHA:54370
Primary Hyperoxaluria Type 3	Calcium oxalate nephrolithiasis, Abnormal renal physiology, Nephrocalcinosis, Hematuria, Dysuria,...	ORPHA:93600
Bartter Syndrome, Type 1, Antenatal	Hyperaldosteronism, Hyperchloriduria, Nephrocalcinosis, Increased urinary potassium, Hypokalemia,...	OMIM:601678
C3 Glomerulopathy 3	Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea...	OMIM:614809
Congenital Primary Megaureter	Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,...	ORPHA:617
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Proteinuria, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Hypouricemia, Aminoaciduria, Hyperph...	OMIM:616026
Congenital Anomalies Of Kidney And Urinary Tract 3	Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl...	OMIM:618270
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Renal Hypodysplasia/Aplasia 3	Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp...	OMIM:617805
Hereditary Xanthinuria	Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi...	ORPHA:3467
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,...	OMIM:614723
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Recurrent bacterial skin infections	ORPHA:183713
Hypomagnesemia 2, Renal	Renal magnesium wasting, Renal insufficiency, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Hyperprolinemia Type 1	Hyperprolinemia, Proteinuria, Nephropathy, Prolinuria	ORPHA:419
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis	OMIM:161950
Nail-Patella-Like Renal Disease	Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Hypertension	ORPHA:2613
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Incr...	OMIM:612925
Nephrotic Syndrome, Type 7	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic...	OMIM:615008
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria...	OMIM:618349
Nephronophthisis 1	Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ...	OMIM:256100
Spastic Paraplegia-Nephritis-Deafness Syndrome	Proteinuria, Hypertension, Nephropathy	ORPHA:2820
Primary Fanconi Renotubular Syndrome	Proximal renal tubular acidosis, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney...	ORPHA:3337
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia	OMIM:211000
Oligomeganephronia	Proteinuria, Small for gestational age, Renal tubular atrophy, Stage 5 chronic kidney disease, De...	ORPHA:2260
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Distal Renal Tubular Acidosis	Hypocitraturia, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesiuria, Renal c...	ORPHA:18
Nephrotic Syndrome, Type 15	Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant...	OMIM:617609
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5...	ORPHA:650
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat...	OMIM:612926
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hypertension, Mesa...	OMIM:616818
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat...	OMIM:612924
Bartter Syndrome, Type 5, Antenatal, Transient	Hypochloremia, Increased circulating renin level, Hypokalemia, Medullary nephrocalcinosis, Hyperc...	OMIM:300971
Nephronophthisis 20	Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral...	OMIM:617271
Senior-Loken Syndrome 4	Polydipsia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:606996
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Foca...	OMIM:603278
Fanconi Renotubular Syndrome 5	Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Hypophosphatemic ricke...	OMIM:618913
Coenzyme Q10 Deficiency, Primary, 6	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ...	OMIM:614650
Xanthinuria, Type Ii	Hypouricemia, Renal insufficiency, Increased urinary hypoxanthine, Nephrolithiasis, Increased cir...	OMIM:603592
Proximal Renal Tubular Acidosis	Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Hypokalemia, Hyper...	ORPHA:47159
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits	ORPHA:69063
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Craniosynostosis, Micropenis, Osteopenia, Hypercalciuria, Hypercalcemia, Hypospadias	OMIM:614732
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:614199
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Nephrotic Syndrome, Type 12	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo...	OMIM:616892
Fanconi Renotubular Syndrome 2	Proteinuria, Hypophosphatemia, Decreased glomerular filtration rate, Glycosuria, Renal phosphate ...	OMIM:613388
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Threoninemia	Hyperthreoninemia, Hyperthreoninuria	OMIM:273770
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Polyphagia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Failu...	OMIM:620085
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemia, Renal phosphate wasting, Osteomalacia, Hypophosphatemic rickets	OMIM:193100
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hypercalciuria, ...	ORPHA:73224
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal...	OMIM:601331
Complement Component C1R/C1S Deficiency	Nephritis, Discoid lupus rash, Arthritis	OMIM:216950
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Nephrocalcinosis, Renal insufficiency, Hematuria, Hyperoxaluria	OMIM:260000
Small Cell Carcinoma Of The Bladder	Recurrent urinary tract infections, Hematuria, Hypercalcemia, Dysuria	ORPHA:284400
Cystinuria	Recurrent urinary tract infections, Hyperlysinuria, Renal insufficiency, Argininuria, Ornithinuri...	OMIM:220100
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neutrophilic infilt...	ORPHA:284426
Fanconi-Bickel Syndrome	Hypophosphatemia, Nephrocalcinosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglyceridemia...	ORPHA:2088
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Small for gestational age, Hypochloremia, Hyperchloriduria, Increased circula...	OMIM:241200
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Ren...	OMIM:300554
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ...	ORPHA:93599
Renal Hypoplasia	Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Small for gestational age, Vesic...	ORPHA:93101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout, Chronic kidney disease, Renal cyst, Hyperuricemia, Nephropathy, Focal segmental glomerulosc...	OMIM:617056
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Hypercalciuria, Hypocalcemia, Hypomagnesemia	ORPHA:428
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Lesch-Nyhan Syndrome	Hyperuricosuria, Nephrolithiasis, Nephrocalcinosis, Hyperuricemia	OMIM:300322
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemia, Renal phosphate wasting, Abnormal circulating calcium concentration, R...	OMIM:241530
Blue Diaper Syndrome	Blue urine, Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia	ORPHA:94086
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Hypospadias	OMIM:201710
Complement Factor H Deficiency	Thickened glomerular basement membrane, Hematuria, Chronic kidney disease, Glomerular subendothel...	OMIM:609814
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Nephronophthisis 3	Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti...	OMIM:604387
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Proteinuria, Acute kidney injury, Abnormal circulating lipid concentration, Diffuse ...	ORPHA:567548
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor...	ORPHA:730
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly	OMIM:613978
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Immunodeficiency 110 With Lymphoproliferation	Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections	OMIM:614868
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Nephrocalcinosis, Hypocalcemic seizures, Hypermagnesemia, Reduced ratio o...	ORPHA:405
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Beta-Thalassemia, Dominant Inclusion Body Type	Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo...	OMIM:603902
Hanac Syndrome	Renal insufficiency, Multiple renal cysts, Hematuria	ORPHA:73229
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic ki...	ORPHA:656
Fibronectin Glomerulopathy	Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno...	ORPHA:84090
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Nephronophthisis 4	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth...	OMIM:606966
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Proteinuria, Renal tubular atrophy, Renal...	ORPHA:85450
Carnitine Palmitoyltransferase Ii Deficiency	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased plasma free carnitine, Tub...	ORPHA:157
C3 Glomerulopathy	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot...	ORPHA:329918
Primary Hyperoxaluria Type 1	Enuresis, Recurrent urinary tract infections, Nephrocalcinosis, Decreased glomerular filtration r...	ORPHA:93598
Nephronophthisis 13	Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea...	OMIM:614377
Hyperprolinemia, Type Ii	Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:239510
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Hypercalcemia	OMIM:156400
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Reduced left ventricular ejection fraction, Elevated left ventricular end-diast...	OMIM:620152
Nephronophthisis 9	Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613824
East Syndrome	Enuresis, Increased circulating renin level, Renal magnesium wasting, Abnormal urinary electrolyt...	ORPHA:199343
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Iminoglycinuria	Hydroxyprolinemia, Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinemia, Hyperglycinuria	ORPHA:42062
Cryoglobulinemia, Familial Mixed	Proteinuria, Abnormal renal physiology, Chronic kidney disease, Hematuria, Elevated circulating c...	OMIM:123550
Hypophosphatasia, Infantile	Craniosynostosis, Hypercalcemia, Nephrocalcinosis, Phosphoethanolaminuria, Hypercalciuria, Failur...	OMIM:241500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypercalciuria, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Hyperphenylalaninemia, Elevated urinary 7-biopterin level	OMIM:264070
Nephrotic Syndrome, Type 1	Hypoproteinemia, Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffici...	OMIM:256300
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Calcinosis, Hypercalciuria, Aminoaciduria, Polyuria, Hyperphosphaturia, Hyperca...	OMIM:239200
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis...	OMIM:179800
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Preeclampsia/Eclampsia 1	Proteinuria, Hypertension	OMIM:189800
Saccharopinuria	Hyperlysinuria, Histidinuria, Saccharopinuria, Elevated circulating sacchoropine concentration, C...	OMIM:268700
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Nephrotic Syndrome, Type 11	Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ...	OMIM:616730
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Hyperuricemia, Chronic kidney disease, Increased blood urea nitrogen, Renal salt was...	OMIM:613845
Fanconi-Bickel Syndrome	Rickets, Proteinuria, Hypophosphatemia, Glycosuria, Hypouricemia, Beta 2-microglobulinuria, Hyper...	OMIM:227810
Hyperparathyroidism 4	Osteopenia, Nephrolithiasis, Hypercalcemia	OMIM:617343
Uremic Pruritus	Renal hypophosphatemia, Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Chr...	ORPHA:94059
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polycystic kidney dysplasia, Hyperammonemia, Decreased plasma free carnitine, Tubulointerstitial ...	ORPHA:228308
Hypocalciuric Hypercalcemia, Familial, Type Iii	Chondrocalcinosis, Hypophosphatemia, Renal insufficiency, Hypermagnesemia, Osteomalacia, Hypocalc...	OMIM:600740
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia	OMIM:145980
Hyperaldosteronism, Familial, Type Iii	Hypertension, Hypokalemia, Hypercalciuria, Polydipsia, Polyuria, Decreased circulating renin level	OMIM:613677
Immunodeficiency, Common Variable, 6	Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ...	OMIM:613496
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Hypokalemia, Renal sodium wasting, Abnormal urine sodium c...	ORPHA:320
Ochoa Syndrome	Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Hy...	ORPHA:2704
Lesch-Nyhan Syndrome	Hematuria, Gout, Renal insufficiency, Hyperuricemia	ORPHA:510
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Aminoaciduria, Hyperp...	ORPHA:436271
Paget Disease Of Bone 5, Juvenile-Onset	Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, Osteoporosis, Hyperphosphatemia...	OMIM:239000
Dibasic Amino Aciduria I	Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria	OMIM:222690
Hyper-Beta-Alaninemia	Hyperbeta-alaninemia, Increased urinary taurine	OMIM:237400
Glycogen Storage Disease X	Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:261670
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose ...	ORPHA:71529
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Amelogenesis Imperfecta, Type Ig	Enuresis, Nephrocalcinosis, Renal insufficiency, Polyuria, Impaired renal concentrating ability	OMIM:204690
Igg4-Related Retroperitoneal Fibrosis	Hydronephrosis, Acute kidney injury, Ureteropelvic junction obstruction, Renal insufficiency, Inc...	ORPHA:49041
Nephronophthisis	Renal insufficiency	ORPHA:655
Carnosinemia	Carnosinuria	OMIM:212200
Glycogen Storage Disease Xi	Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate...	OMIM:612933
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Preeclampsia	Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Elevated hep...	ORPHA:275555
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Glycosuria, Nephropathy, Conjugated hyperbilirubinemia, Aminoacidu...	OMIM:613404
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Xanthinuria	OMIM:278300
Fructose Intolerance, Hereditary	Proximal renal tubular acidosis, Transient aminoaciduria, Hypophosphatemia, Glycosuria, Hyperuric...	OMIM:229600
Alport Syndrome	Microscopic hematuria, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Glomer...	ORPHA:63
Congenital Megacalycosis	Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial...	ORPHA:93109
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome	OMIM:617783
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:160010
Camos Syndrome	Renal insufficiency, Nephrotic syndrome	ORPHA:83472
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins...	OMIM:143400
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Renal hypoplasia/aplasia, Hypercalcemia	ORPHA:2123
Bartter Syndrome Type 4	Small for gestational age, Acute kidney injury, Hypochloremia, Nephrocalcinosis, Chronic kidney d...	ORPHA:89938
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating renin level, Increased circulating corticosterone level, Hyperkalemia, Fail...	OMIM:610600
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Galloway-Mowat Syndrome 5	Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch...	OMIM:617731
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ...	OMIM:245900
Hyperinsulinism Due To Hnf1A Deficiency	Polyphagia, Maternal diabetes, Small for gestational age, Neonatal hypoglycemia, Fasting hypoglyc...	ORPHA:324575
Schimmelpenning-Feuerstein-Mims Syndrome	Horseshoe kidney, Hyperphosphaturia, Hypophosphatemic rickets	OMIM:163200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia	ORPHA:231393
Dicarboxylic Aminoaciduria	Nephrolithiasis, Aspartic aciduria, Aminoaciduria	OMIM:222730
Galactosemia Ii	Galactosuria, Hypergalactosemia	OMIM:230200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Aminoaciduria, Hyperp...	OMIM:220110
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Alport Syndrome 3, Autosomal Dominant	Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Stage 5 chronic kidney ...	OMIM:104200
Renal Tubular Acidosis Iii	Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Hypokalemia	OMIM:267200
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased...	OMIM:145981
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:242600
Hypocalcemic Vitamin D-Resistant Rickets	Osteolysis, Hypophosphatemia, Abnormal adipose tissue morphology, Osteomalacia, Coarse metaphysea...	ORPHA:93160
Rhabdoid Tumor	Renal neoplasm, Hematuria, Hypercalcemia, Weight loss	ORPHA:69077
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate, Hypokalemia,...	OMIM:604278
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Polycystic Kidney Disease 5	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti...	OMIM:617610
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn...	OMIM:613779
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Decreased glomerular filtratio...	ORPHA:488627
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti...	OMIM:301006
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia	OMIM:618161
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ...	OMIM:609583
Gracile Syndrome	Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate, Ami...	OMIM:603358
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Paternal Uniparental Disomy Of Chromosome 1	Craniosynostosis, Proteinuria, Enlarged kidney, Macroscopic hematuria, Abnormal dental enamel mor...	ORPHA:251004
Oncogenic Osteomalacia	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia, Renal phosphate wasting	ORPHA:352540
Cystinosis	Rickets, Proteinuria, Hypophosphatemia, Renal insufficiency, Nephropathy, Hypokalemia, Renal tubu...	ORPHA:213
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Hypophosphatasia, Childhood	Phosphoethanolaminuria, Low alkaline phosphatase, Elevated plasma pyrophosphate, Elevated urine p...	OMIM:241510
Hemoglobin E Disease	Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom...	ORPHA:2133
Frasier Syndrome	Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:136680
Atypical Hemolytic Uremic Syndrome	Proteinuria, Acute kidney injury, Hematuria, Abnormal lactate dehydrogenase level	ORPHA:2134
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction	ORPHA:1380
Hyperparathyroidism 2 With Jaw Tumors	Polycystic kidney dysplasia, Renal cortical adenoma, Recurrent pancreatitis, Papillary renal cell...	OMIM:145001
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Enuresis, Increased circulating renin level, Hypertension, Hypokalemia, Hypocalciuria, Renal sodi...	OMIM:612780
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis	OMIM:146200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Isothenuria	OMIM:611590
Trimethylaminuria	Hypertension, Trimethylaminuria, Tachycardia	OMIM:602079
Hypotonia-Cystinuria Syndrome	Polyphagia, Nephrolithiasis, Cystinuria, Failure to thrive	ORPHA:163690
Thrombotic Thrombocytopenic Purpura	Proteinuria, Acute kidney injury, Renal insufficiency, Decreased serum creatinine, Hematuria, Abn...	ORPHA:54057
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Hyperuricemia, Osteoporosis, Osteoarthritis, Hypercholesterolemia...	ORPHA:77296
Hyperglycinuria	Calcium oxalate nephrolithiasis, Hyperglycinuria	OMIM:138500
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypophosphatemia, Glyco...	ORPHA:411629
Molybdenum Cofactor Deficiency, Complementation Group A	Increased urinary sulfite, Hypouricemia, Elevated urinary S-sulfocysteine level, Increased urinar...	OMIM:252150
Phosphoribosylpyrophosphate Synthetase Superactivity	Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficiency, Urolithiasis, Hyp...	OMIM:300661
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Hyperhomocystinemia, Homocystinuria	OMIM:236250
Glycogen Storage Disease V	Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl...	OMIM:205950
Hemorrhagic Fever-Renal Syndrome	Decreased glomerular filtration rate, Agitation, Intracranial hemorrhage, Epistaxis, Proteinuria,...	ORPHA:340
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:268200
5-Oxoprolinase Deficiency	Calcium oxalate nephrolithiasis, Prolinuria, Increased level of L-pyroglutamic acid in urine	OMIM:260005
Immunodeficiency, Common Variable, 4	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis	OMIM:613494
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Diaminopentanuria	Cystinuria, Hyperlysinuria	OMIM:222350
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia, Megacystis, Failure to thrive, Polydipsia, Polyuria	OMIM:125800
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Hypophosphatemia, Renal phosphate wasting, Abnormal circulating calcium concentration, E...	OMIM:307800
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox...	OMIM:167030
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Megacystis, Failure to thrive, Polydipsia, Polyuria	OMIM:304800
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria	OMIM:204750
Gitelman Syndrome	Enuresis, Ventricular tachycardia, Increased circulating renin level, Renal magnesium wasting, Hy...	OMIM:263800
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Renal insufficiency, Myoglobinuria	OMIM:255110
Primary Hyperoxaluria	Calcium oxalate nephrolithiasis, Aciduria, Nephrocalcinosis, Hyperoxaluria, Chronic kidney diseas...	ORPHA:416
Denys-Drash Syndrome	Proteinuria, Hypertension, Nephropathy, Nephrotic syndrome, Nephroblastoma	ORPHA:220
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hyperammonemia, Fever, Hyperuricemia, Increased level ...	OMIM:246450
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Hyperuricemia, Chronic kidney disease, Vesicoureteral ref...	ORPHA:261222
Oculoskeletodental Syndrome	Mucopolysacchariduria, Small for gestational age, Hypercalciuria, Hypocalcemia, Elbow flexion con...	OMIM:618440
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Adenine Phosphoribosyltransferase Deficiency	Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Stage 5 chronic kidney dise...	ORPHA:976
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Coach Syndrome 3	Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:619113
Nephrotic Syndrome, Type 14	Proteinuria, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic s...	OMIM:617575
Corticosterone Methyloxidase Type I Deficiency	Increased circulating renin level, Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia	OMIM:203400
Galactosemia Iii	Galactosuria, Hypergalactosemia, Aminoaciduria	OMIM:230350
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Nephrolithiasis, Hematuria, Hypernatremia, Hypercalcemia,...	ORPHA:35710
Enamel-Renal Syndrome	Enuresis, Nephrocalcinosis, Renal insufficiency, Nephropathy, Hypocalciuria, Hypophosphaturia, Im...	ORPHA:1031
Cystathioninuria	Cystathioninuria, Nephrolithiasis, Cystathioninemia	ORPHA:212
Hypersulfaturia	Nephrolithiasis, Increased urinary sulfate	OMIM:620372
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased serum creatinine, Reduced blood urea nitrogen, Hyponatremia, Hyposthenu...	OMIM:300539
Glycogen Storage Disease Ia	Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hypertension, ...	OMIM:232200
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Failure to thrive	OMIM:263000
Central Diabetes Insipidus	Failure to thrive, Polydipsia, Nocturia, Hyponatremia, Weight loss	ORPHA:178029
Hinman Syndrome	Recurrent urinary tract infections, Hydronephrosis, Enuresis, Renal insufficiency, Vesicoureteral...	ORPHA:84085
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate...	ORPHA:2364
Carbamoyl-Phosphate Synthetase 1 Deficiency	Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Aminoaciduria	ORPHA:147
Phenylketonuria	Aminoaciduria	ORPHA:716
Liddle Syndrome	Arrhythmia, Renal insufficiency, Hypertension, Nephropathy, Hypokalemia, Cerebral ischemia	ORPHA:526
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Nephritis, Glomerular basement membrane disruption, Thickened glomerular basement membrane, Stage...	OMIM:609057
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Lessel-Kubisch Syndrome	Renal insufficiency, Hypertension, Renal hypoplasia	OMIM:618681
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Hypernatremia, Hydroureter, Renal insufficiency, Functional abnormality of the...	ORPHA:223
Pauci-Immune Glomerulonephritis	Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Small vessel vasculi...	ORPHA:93126
Homocarnosinosis	Carnosinuria	OMIM:236130
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Galloway-Mowat Syndrome 7	Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ...	OMIM:618348
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Stage 5 chronic kidney...	OMIM:613095
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot...	ORPHA:839
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Hyperoxaluria, Primary, Type Iii	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
Non-Functioning Paraganglioma	Elevated urinary epinephrine, Elevated urinary dopamine, Elevated urinary norepinephrine, Hematur...	ORPHA:94080
Amyloidosis, Familial Visceral	Proteinuria, Hypertension, Nephropathy, Nephrotic syndrome, Hematuria	OMIM:105200
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Senior-Loken Syndrome 3	Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polydip...	OMIM:606995
Late-Onset Familial Hypoaldosteronism	Increased circulating renin level, Abnormal circulating corticosterone level, Hyperkalemia, Renal...	ORPHA:556037
Nephrosialidosis	Renal insufficiency, Nephropathy, Nephrotic syndrome	OMIM:256150
Alport Syndrome 2, Autosomal Recessive	Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Thickened glomerular basement m...	OMIM:203780
Senior-Loken Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease	ORPHA:3156
Juvenile Nephropathic Cystinosis	Microscopic hematuria, Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kid...	ORPHA:411634
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperaldosteronism, Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia	OMIM:264350
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron...	OMIM:146255
Galloway-Mowat Syndrome 6	Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypoalbuminemia	OMIM:618347
Complement Factor B Deficiency	Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis	OMIM:615561
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive	ORPHA:163693
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Failure to thrive, Delayed e...	OMIM:264700
Hypophosphatemic Rickets	Rickets, Craniofacial osteosclerosis, Hypophosphatemia, Nephrocalcinosis, Joint stiffness, Renal ...	ORPHA:437
Genetic Recurrent Myoglobinuria	Recurrent myoglobinuria, Acute kidney injury, Exercise-induced myoglobinuria, Renal insufficiency...	ORPHA:99845
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias	OMIM:201910
Early-Onset Familial Hypoaldosteronism	Increased circulating renin level, Abnormal circulating corticosterone level, Hyperkalemia, Renal...	ORPHA:556030
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria	OMIM:238700
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Urofacial Syndrome 2	Recurrent urinary tract infections, Hydronephrosis, Enuresis, Spastic/hyperactive bladder, Megacy...	OMIM:615112
Immunodeficiency 51	Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Chronic oral candidiasis, Re...	OMIM:613953
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Podocyte foot process ef...	OMIM:615861
Galloway-Mowat Syndrome 4	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc...	OMIM:617730
Nephronophthisis 2	Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar...	OMIM:602088
Juvenile Paget Disease	Hyperuricemia, Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures, Cranial h...	ORPHA:2801
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Maternally-Inherited Diabetes And Deafness	Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy, Arrhythmia, Renal insuffic...	ORPHA:225
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Nephrotic Syndrome, Type 8	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,...	OMIM:615244
Hyperprolinemia, Type I	Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:239500
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Failure to thrive, Increased blood urea nitrogen, Elevated circulating creatinine c...	OMIM:617872
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria	ORPHA:251274
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Pathologic fracture, Hyperkalemia, Stage 3 chronic kidney disease...	OMIM:620366
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl...	OMIM:191800
Hepatic Veno-Occlusive Disease	Renal insufficiency, Elevated hepatic transaminase, Jaundice, Increased total bilirubin	ORPHA:890
Glutamate Formiminotransferase Deficiency	Elevated urinary formiminoglutamic acid level, Positive ferric chloride test, Aminoaciduria	OMIM:229100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular atrophy, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Nephropa...	OMIM:208085
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia, Osteopenia	OMIM:619073
Lipodystrophy, Familial Partial, Type 3	Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, ...	OMIM:604367
Thrombotic Thrombocytopenic Purpura, Hereditary	Microscopic hematuria, Proteinuria, Abnormal renal physiology, Jaundice, Hemolytic-uremic syndrom...	OMIM:274150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Nephrocalcinosis, Renal cyst, Hydroureter, Hypercalciuria	OMIM:615398
Nephrotic Syndrome, Type 21	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac...	OMIM:618594
Bardet-Biedl Syndrome 16	Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Recurrent otiti...	OMIM:615993
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Renal cyst	OMIM:174050
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Erythrocytosis, Familial, 3	Increased hematocrit, Increased hemoglobin, Increased red blood cell mass	OMIM:609820
Molybdenum Cofactor Deficiency, Complementation Group B	Increased urinary sulfite, Hypouricemia, Increased urinary hypoxanthine, Decreased urinary urate,...	OMIM:252160
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydronephrosis, Enuresis, Hydroureter, Urethral valve, Urethr...	OMIM:236730
Glycogen Storage Disease Ib	Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hypertension, ...	OMIM:232220
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria, Weight loss	ORPHA:95626
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Weight ...	ORPHA:97289
Nephronophthisis 18	Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened gl...	OMIM:615862
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia, Decreased circulating cortisol...	OMIM:614736
Parathyroid Carcinoma	Chondrocalcinosis, Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Renal cyst, Renal insuffi...	ORPHA:143
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ...	OMIM:620058
Heinz Body Anemias	Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia	OMIM:140700
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Osteomalacia, Failure to thr...	ORPHA:289157
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome	OMIM:249660
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Hyperinsulinemia, Hyperglycemia, Hyperlipidemia, Obesity	ORPHA:329249
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Colitis, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomer...	OMIM:617006
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Renal insufficiency,...	OMIM:619386
Drug-Induced Lupus Erythematosus	Malar rash, Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, He...	ORPHA:231111
Hypokalemic Tubulopathy And Deafness	Renal salt wasting, Increased circulating renin level	OMIM:619406
Glycogen Storage Disease Vii	Hyperuricemia, Gout, Exercise-induced myoglobinuria, Elevated circulating creatine kinase concent...	OMIM:232800
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	BCGosis, Severe toxoplasmosis, Coccidioidomycosis, Recurrent mycobacterial infections, Recurrent ...	ORPHA:319552
Cystinosis, Nephropathic	Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, Renal Fanconi syndrome, Ne...	OMIM:219800
Glycogen Storage Disease Ic	Proteinuria, Pulmonary arterial hypertension, Hyperuricemia, Decreased glomerular filtration rate...	OMIM:232240
Renal Tubular Dysgenesis	Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy	ORPHA:1909
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, ...	ORPHA:35878
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Combined Oxidative Phosphorylation Deficiency 55	Enuresis, Hypophosphatemia, Renal Fanconi syndrome, Hypophosphatemic rickets, Elevated circulatin...	OMIM:619743
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Ethylene Glycol Poisoning	Decreased urine output, Renal insufficiency, Renal tubular dysfunction, Hyperkalemia, Renal tubul...	ORPHA:31826
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Infantile Myofibromatosis	Chondrocalcinosis, Abnormality of the kidney, Osteolysis, Bone cyst, Limitation of joint mobility...	ORPHA:2591
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Nephronophthisis 11	Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ...	OMIM:613550
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate	ORPHA:760
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Polyphagia, Maternal diabetes, Fasting hypoglycemia, Agitation, Abnormal oral glucose tolerance, ...	ORPHA:276580
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid	OMIM:206400
Aapoaiv Amyloidosis	Proteinuria, Renal interstitial amyloid deposits, Chronic kidney disease, Renal amyloidosis, Hype...	ORPHA:439232
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