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
increased blood urea nitrogen level	Umod^urehr4	HOM	Early adult	8.76×10^-29
decreased hemoglobin content	Umod^urehr4	HOM	Early adult	2.63×10^-05
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 (2393 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, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff...	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 34	Recurrent mycobacterial infections, Severe recurrent varicella	OMIM:300645
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
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	Duplicated collecting system, Hydronephrosis	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	Recurrent vulvovaginal candidiasis, Onychomycosis	OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial 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 bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi...	OMIM:613092
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro...	OMIM:161900
Mannose-Binding Lectin Deficiency	Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr...	OMIM:614372
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Immunodeficiency 53	Recurrent infections, Recurrent respiratory infections, Recurrent otitis media	OMIM:617585
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria...	OMIM:308990
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei...	OMIM:310468
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep...	OMIM:616963
Lipoprotein Glomerulopathy	Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria	OMIM:611771
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine...	OMIM:614196
Uridine-Cytidineuria	Elevated urinary cytidine	OMIM:618477
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ...	ORPHA:564178
Neuroblastoma	Elevated urinary catecholamines	ORPHA:635
Focal Segmental Glomerulosclerosis 6	Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo...	OMIM:614131
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Dent Disease 2	Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con...	OMIM:300555
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi...	ORPHA:411536
Idiopathic Hypercalciuria	Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis	ORPHA:2197
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri...	OMIM:614817
Nephrotic Syndrome, Type 23	Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero...	OMIM:619201
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th...	OMIM:266900
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary...	OMIM:248190
Nephrotic Syndrome, Type 9	Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr...	OMIM:615573
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Hereditary Renal Hypouricemia	Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno...	ORPHA:94088
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo...	OMIM:611555
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen...	OMIM:619263
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:301028
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro...	OMIM:618178
Hypophosphatemia, Renal, With Intracerebral Calcifications	Renal phosphate wasting, Renal hypophosphatemia	OMIM:241519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia	OMIM:612286
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu...	OMIM:600995
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici...	OMIM:619468
Medullary Sponge Kidney	Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria	ORPHA:1309
Hypomagnesemia 3, Renal	Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci...	OMIM:248250
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise...	OMIM:256020
Focal Segmental Glomerulosclerosis 2	Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag...	OMIM:603965
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Nephrotic Syndrome, Type 17	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi...	OMIM:618176
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections	OMIM:613495
Monocyte and dendritic cell deficiency, autosomal recessive	Recurrent infections	OMIM:614894
Type 1 Diabetes Mellitus	Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyuria, Polyphagia, Diabetes melli...	OMIM:222100
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o...	ORPHA:2843
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Hypouricemia, Renal, 1	Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ...	OMIM:220150
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu...	OMIM:611521
Nephronophthisis 7	Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611498
Iga Nephropathy, Susceptibility To, 2	Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease	OMIM:613944
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Infantile hypercalcemia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Hy...	ORPHA:99879
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium...	ORPHA:567544
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 candida infections, Recurrent bacterial infections	OMIM:242870
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hyperuricemia, Hprt-Related	Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia	OMIM:300323
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia	OMIM:613312
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con...	ORPHA:79233
Dent Disease	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro...	ORPHA:1652
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti...	OMIM:602522
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium...	OMIM:613090
Glomerulopathy With Fibronectin Deposits 2	Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro...	OMIM:601894
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Hyperuricosuria, Renal insufficiency, Acute kidney injury, Hyperuricemia, Uric acid...	ORPHA:411543
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria	OMIM:239199
Immunodeficiency 12	Recurrent viral infections, Recurrent bacterial infections	OMIM:615468
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria	OMIM:602722
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Glycosuria, Hypercalciuria, Elevated alkaline phosphatase of bone origin, Gener...	OMIM:613388
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Glomerulopathy With Fibronectin Deposits 1	Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer...	OMIM:137950
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M...	ORPHA:157215
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d...	OMIM:618061
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency	OMIM:607832
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ...	OMIM:174000
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc...	OMIM:613860
Nephronophthisis 20	Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:617271
Nephrotic Syndrome, Type 3	Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,...	OMIM:610725
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic...	OMIM:603278
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Bartter Syndrome, Type 3	Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Increased circulating renin le...	OMIM:607364
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,...	OMIM:601198
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Galloway-Mowat Syndrome 8	Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:618349
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc...	ORPHA:228302
Tuftsin Deficiency	Recurrent infections	OMIM:191150
Hypercalcemia, Infantile, 1	Nephrolithiasis, Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis	OMIM:143880
Primary Hyperoxaluria Type 3	Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab...	ORPHA:93600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff...	OMIM:162000
Dent Disease 1	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria...	OMIM:300009
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis	OMIM:618270
Renal Glucosuria	Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna	OMIM:233100
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia	ORPHA:2668
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Abnormal tubulointerstitial morphology, Elevated hepatic transaminase, Chronic kidney disease, Ne...	OMIM:602114
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia	OMIM:609886
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting	OMIM:618314
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media	OMIM:616022
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy...	OMIM:616026
Congenital Primary Megaureter	Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina...	ORPHA:617
Bartter Syndrome, Type 1, Antenatal	Hyperprostaglandinuria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Osteopenia, Increased...	OMIM:601678
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616220
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Re...	ORPHA:54370
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Hyperxanthinemia, Hypou...	ORPHA:3467
Renal Hypodysplasia/Aplasia 3	Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ...	OMIM:617805
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c...	OMIM:614723
Nephrotic Syndrome, Type 22	Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m...	OMIM:619155
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Recurrent bacterial skin infections	ORPHA:183713
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria	ORPHA:2613
Iga Nephropathy, Susceptibility To, 1	Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease	OMIM:161950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612925
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria	ORPHA:419
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits	ORPHA:69063
Hypomagnesemia 2, Renal	Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Oligomeganephronia	Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational ag...	ORPHA:2260
Nephronophthisis 1	Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ...	OMIM:256100
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypophosphatemic rickets, Hypophosphatemia, Bica...	ORPHA:3337
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Nephropathy, Proteinuria	ORPHA:2820
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Distal Renal Tubular Acidosis	Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-...	ORPHA:18
Lcat Deficiency	Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr...	ORPHA:650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612926
Iga Nephropathy, Susceptibility To, 3	Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio...	OMIM:616818
Nephrotic Syndrome, Type 15	Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ...	OMIM:617609
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary...	OMIM:300971
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi...	OMIM:618913
Senior-Loken Syndrome 4	Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:606996
Proximal Renal Tubular Acidosis	Nephrolithiasis, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulop...	ORPHA:47159
Severe Primary Trimethylaminuria	Trimethylaminuria	ORPHA:468726
Xanthinuria, Type Ii	Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,...	OMIM:603592
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Craniosynostosis, Micropenis, Hypospadias, Osteopenia, Hypercalciuria, Hypercalcemia	OMIM:614732
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo...	OMIM:616892
Saccharopinuria	Elevated circulating sacchoropine concentration, Histidinuria, Citrullinuria, Hyperlysinuria, Sac...	OMIM:268700
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis	OMIM:260000
Threoninemia	Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Fanconi-Bickel Syndrome	Hypophosphatemia, Renal tubular acidosis, Nephropathy, Glycosuria, Hypercalciuria, Generalized am...	ORPHA:2088
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets	OMIM:193100
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal...	ORPHA:73224
Essential Fructosuria	Abnormal urine carbohydrate level	ORPHA:2056
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo...	OMIM:615008
Cd8 Deficiency, Familial	Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections	OMIM:608957
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete...	OMIM:601331
Nephrotic Syndrome, Type 4	Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros...	OMIM:256370
Tubulointerstitial Nephritis With Uveitis	Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra...	OMIM:607665
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis	OMIM:614650
Primary Hyperoxaluria Type 2	Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H...	ORPHA:93599
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Cystinuria	Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn...	OMIM:220100
C3 Glomerulopathy 3	Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease	OMIM:614809
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici...	OMIM:254900
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Blue urine, Hyperphosphatemia	ORPHA:94086
Bartter Syndrome, Type 2, Antenatal	Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failure to thrive, Increased urinary potassi...	OMIM:241200
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Fanconi-Bickel Syndrome	Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ...	OMIM:227810
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid...	OMIM:300554
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hyperphosphatemia, Nephrocalcinosis	ORPHA:428
Hypervitaminosis A, Susceptibility To	Renal insufficiency, Hypercalcemia	OMIM:240150
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Elevated hepatic transa...	ORPHA:284426
Renal Hypoplasia	Chronic kidney disease, Polydipsia, Small for gestational age, Abnormal renal tubule morphology, ...	ORPHA:93101
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria, Hypouricemia	OMIM:242050
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e...	ORPHA:730
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Complement Factor H Deficiency	Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel...	OMIM:609814
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent...	OMIM:613501
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Stage 5 chronic kidney disease	OMIM:618250
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per...	ORPHA:567548
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Familial Hypocalciuric Hypercalcemia	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Lipoma, R...	ORPHA:405
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections	OMIM:614868
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, F...	OMIM:241530
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Systemic Lupus Erythematosus 16	Nephritis	OMIM:614420
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypophosphatemia, Hypocalcemia	ORPHA:89937
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Genetic Steroid-Resistant Nephrotic Syndrome	Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero...	ORPHA:656
Primary Hyperoxaluria Type 1	Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin...	ORPHA:93598
C3 Glomerulopathy	Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo...	ORPHA:329918
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu...	OMIM:606966
Fibronectin Glomerulopathy	Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Hypoalbuminemi...	ORPHA:84090
Hereditary Amyloidosis With Primary Renal Involvement	Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti...	ORPHA:85450
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k...	ORPHA:157
Nephronophthisis 13	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu...	OMIM:614377
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis	OMIM:156400
Nephronophthisis 3	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien...	OMIM:604387
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria	OMIM:239510
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Lesch-Nyhan Syndrome	Nephrolithiasis, Hyperuricosuria, Hyperuricemia	OMIM:300322
Hypophosphatasia, Infantile	Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossificat...	OMIM:241500
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Osteomalacia...	OMIM:134600
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Diffuse me...	OMIM:256300
Hyperphenylalaninemia, Bh4-Deficient, D	Elevated urinary 7-biopterin level, Hyperphenylalaninemia, Transient hyperphenylalaninemia	OMIM:264070
Renal Tubular Acidosis, Distal, 1	Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c...	OMIM:179800
East Syndrome	Hypomagnesemia, Hypokalemia, Increased circulating renin level, Renal magnesium wasting, Renal so...	ORPHA:199343
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Hyperu...	OMIM:617056
Nephrotic Syndrome, Type 11	Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo...	OMIM:616730
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis, Hyperphosph...	OMIM:239200
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con...	OMIM:123550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul...	ORPHA:228308
Hyperparathyroidism 4	Nephrolithiasis, Osteopenia, Hypercalcemia	OMIM:617343
Uremic Pruritus	Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena...	ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type I	Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia	OMIM:145980
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem...	OMIM:613845
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged...	OMIM:613496
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Hypocalciuric Hypercalcemia, Familial, Type Iii	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp...	OMIM:600740
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Lesch-Nyhan Syndrome	Renal insufficiency, Gout, Hematuria, Hyperuricemia	ORPHA:510
Vesicoureteral Reflux 3	Hydroureter, Vesicoureteral reflux, Hydronephrosis	OMIM:613674
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Increased bone mineral density, Macula...	OMIM:239000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp...	ORPHA:436271
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Decreased circulating renin level, Hypertension	OMIM:613677
Hyper-Beta-Alaninemia	Hyperbeta-alaninemia, Increased urinary taurine	OMIM:237400
Bardet-Biedl Syndrome 10	Abnormality of the kidney, Renal cyst, Renal insufficiency	OMIM:615987
Bartter Syndrome Type 4	Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni...	ORPHA:89938
Dibasic Amino Aciduria I	Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria	OMIM:222690
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Amelogenesis Imperfecta, Type Ig	Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis	OMIM:204690
Carnosinemia	Carnosinuria	OMIM:212200
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Conjugated hyperbilirubinemia, Pr...	OMIM:613404
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr...	ORPHA:71529
Proteinuria, Chronic Benign	Renal insufficiency, Albuminuria, Proteinuria	OMIM:618884
Glycogen Storage Disease X	Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:261670
Ochoa Syndrome	Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs...	ORPHA:2704
Igg4-Related Retroperitoneal Fibrosis	Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo...	ORPHA:49041
Apparent Mineralocorticoid Excess	Hypokalemia, Abnormal urine sodium concentration, Renal insufficiency, Decreased circulating reni...	ORPHA:320
Xanthinuria, Type I	Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis	OMIM:278300
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis	OMIM:614473
Diabetes Insipidus, Neurohypophyseal, X-Linked	Polyuria, Hypokalemia, Hydronephrosis, Polydipsia	OMIM:304900
Galactosemia Ii	Hypergalactosemia, Galactosuria	OMIM:230200
Preeclampsia	Chronic kidney disease, Abnormality of the kidney, Elevated hepatic transaminase, Elevated circul...	ORPHA:275555
Immunodeficiency 32A	Recurrent infections	OMIM:614893
Fructose Intolerance, Hereditary	Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu...	OMIM:229600
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l...	OMIM:610600
Glycogen Storage Disease Xi	Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration...	OMIM:612933
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia	ORPHA:2123
Alport Syndrome	Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin...	ORPHA:63
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Nephronophthisis	Renal insufficiency	ORPHA:655
Dicarboxylic Aminoaciduria	Nephrolithiasis, Aminoaciduria, Aspartic aciduria	OMIM:222730
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Galloway-Mowat Syndrome 5	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis	OMIM:617731
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:160010
Alport Syndrome 3, Autosomal Dominant	Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme...	OMIM:104200
Galloway-Mowat Syndrome 2, X-Linked	Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch...	OMIM:301006
Renal Tubular Acidosis Iii	Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis	OMIM:267200
Nephrotic Syndrome, Type 16	Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp...	OMIM:220110
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Hypophosphatemic rickets, Horseshoe kidney	OMIM:163200
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti...	OMIM:143400
Immunodeficiency 61	Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr...	OMIM:300310
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria, Failure to thrive	OMIM:606528
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Hypokalemia, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate,...	OMIM:604278
Rhabdoid Tumor	Renal neoplasm, Weight loss, Hematuria, Hypercalcemia	ORPHA:69077
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:242600
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	ORPHA:42062
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Bardet-Biedl Syndrome 18	Renal insufficiency	OMIM:615995
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis, Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose...	ORPHA:93160
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria	OMIM:204750
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Renal insufficiency, Micropenis	OMIM:613861
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent pneumonia, Renal insuffic...	OMIM:613779
Hypocalciuric Hypercalcemia, Familial, Type Ii	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati...	OMIM:145981
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Increased blood urea nitrogen, Craniosynostosis, Macroscopic hematuria, Memb...	ORPHA:251004
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit...	ORPHA:488627
Joubert Syndrome 35	Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis	OMIM:618161
Nephrotic Syndrome, Type 8	Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin...	OMIM:615244
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Gracile Syndrome	Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Increased ...	OMIM:603358
Galloway-Mowat Syndrome 4	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo...	OMIM:617730
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Joubert Syndrome 4	Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ...	OMIM:609583
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet...	ORPHA:324575
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Hyperphosphatemia, Polyuria, And Seizures	Polyuria, Hyperphosphatemia	OMIM:239350
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia	OMIM:146200
Immunodeficiency With Hyper-Igm, Type 2	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent...	OMIM:605258
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis, Hypokalemia	OMIM:611590
Cystinosis	Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephr...	ORPHA:213
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Low alkaline phosphatase, Phosphoeth...	OMIM:241510
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction	ORPHA:1380
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Proteinuria, Abnormal lactate dehydrogenase level	ORPHA:2134
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:268200
Trimethylaminuria	Trimethylaminuria, Hypertension, Tachycardia	OMIM:602079
Hyperglycinuria	Calcium oxalate nephrolithiasis, Hyperglycinuria	OMIM:138500
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst...	OMIM:145001
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A...	OMIM:307800
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia	ORPHA:352540
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Hyperuricosuria, Urolithiasis, Renal insufficiency, Hyperuricemia, Uric acid nephrol...	OMIM:300661
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Abn...	ORPHA:54057
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets	OMIM:612089
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria	OMIM:245900
5-Oxoprolinase Deficiency	Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine	OMIM:260005
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia...	ORPHA:77296
Denys-Drash Syndrome	Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension	ORPHA:220
Oculoskeletodental Syndrome	Hypocalcemia, Small for gestational age, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, H...	OMIM:618440
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane...	OMIM:205950
Infantile Nephropathic Cystinosis	Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Low-molecula...	ORPHA:411629
Nephrolithiasis, Calcium Oxalate	Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox...	OMIM:167030
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Hyperhomocystinemia	OMIM:236250
Immunodeficiency, Common Variable, 4	Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613494
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Failure to thrive, Polyphagia, Cystinuria	ORPHA:163690
Glycogen Storage Disease V	Dark urine, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperuricemia	OMIM:232600
Molybdenum Cofactor Deficiency, Complementation Group A	Increased urinary taurine, Absent urinary urothione, Xanthinuria, Decreased urinary sulfate, Incr...	OMIM:252150
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Polydipsia, Polyuria, Hypernatremia, Megacystis	OMIM:125800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Fever, 3-Methylglutaric aciduria, Hyperammonemia, Organic aciduria, Decreased plasma carnitine, H...	OMIM:246450
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Polydipsia, Polyuria, Hypernatremia, Megacystis	OMIM:304800
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ...	ORPHA:976
Primary Hyperoxaluria	Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalciuria, Aciduria, Hyp...	ORPHA:416
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:203400
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ob...	ORPHA:261222
Gitelman Syndrome	Failure to thrive, Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Pa...	OMIM:263800
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Hemorrhagic Fever-Renal Syndrome	Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr...	ORPHA:340
Pauci-Immune Glomerulonephritis	Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Pulmona...	ORPHA:93126
Cystathioninuria	Cystathioninuria	OMIM:219500
Cystathioninuria	Nephrolithiasis, Cystathioninemia, Cystathioninuria	ORPHA:212
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Galactosemia Iii	Hypergalactosemia, Aminoaciduria, Galactosuria	OMIM:230350
Enamel-Renal Syndrome	Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi...	ORPHA:1031
Coach Syndrome 3	Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr...	OMIM:619113
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting	OMIM:614736
Bardet-Biedl Syndrome 16	Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu...	OMIM:615993
Glucose-Galactose Malabsorption	Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,...	ORPHA:35710
Glycogen Storage Disease Ia	Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Enlarged kidney, Focal seg...	OMIM:232200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria	OMIM:615398
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Hinman Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral...	ORPHA:84085
Liddle Syndrome	Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension	ORPHA:526
Homocarnosinosis	Carnosinuria	OMIM:236130
Phenylketonuria	Aminoaciduria	ORPHA:716
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem...	ORPHA:556037
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Lessel-Kubisch Syndrome	Hypertension, Renal hypoplasia, Renal insufficiency	OMIM:618681
Galloway-Mowat Syndrome 7	Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in...	OMIM:618348
Amyloidosis, Familial Visceral	Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria, Hypertension	OMIM:105200
Hyperoxaluria, Primary, Type Iii	Calcium oxalate nephrolithiasis, Hyperoxaluria	OMIM:613616
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration...	ORPHA:2364
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac...	OMIM:146255
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem...	ORPHA:556030
Senior-Loken Syndrome 3	Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k...	OMIM:606995
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage...	OMIM:609057
Nephrogenic Diabetes Insipidus	Failure to thrive, Polydipsia, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatremia, Functional...	ORPHA:223
Non-Functioning Paraganglioma	Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E...	ORPHA:94080
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease	ORPHA:3156
Polycystic Kidney Disease 5	Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease	OMIM:617610
Nephrosialidosis	Nephrotic syndrome, Nephropathy, Renal insufficiency	OMIM:256150
Complement Factor B Deficiency	Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections	OMIM:615561
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Failure to thrive, Recurrent fractures, Hypophosphatemia, Delayed epiphyseal ossification, Sparse...	OMIM:264700
Nephronophthisis 18	Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti...	OMIM:615862
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria	ORPHA:251274
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Failure to thrive, Hyponatremia, Hyperaldosteronism, Hyperkalemia, Renal salt wasting	OMIM:264350
Glycogen Storage Disease Ic	Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Spider hemangioma, Focal segment...	OMIM:232240
Central Diabetes Insipidus	Failure to thrive, Polydipsia, Nocturia, Hyponatremia, Weight loss	ORPHA:178029
Alport Syndrome 2, Autosomal Recessive	Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re...	OMIM:203780
Nephrotic Syndrome, Type 14	Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ...	OMIM:617575
Azotemia, Familial	Azotemia	OMIM:109160
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Hypophosphatemia, Hypokalemia...	ORPHA:411634
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:618347
2P21 Microdeletion Syndrome	Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria	ORPHA:163693
Hypophosphatemic Rickets	Renal phosphate wasting, Failure to thrive, Joint stiffness, Hypophosphatemia, Fibrous dysplasia ...	ORPHA:437
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ...	ORPHA:839
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular acidosis, Aminoaciduria, Reduced renal corticomedullary differentiation, Renal tubu...	OMIM:208085
Genetic Recurrent Myoglobinuria	Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Myositis, Increased c...	ORPHA:99845
Urofacial Syndrome 2	Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u...	OMIM:615112
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein,...	OMIM:613095
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-...	OMIM:615861
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Recurrent ...	OMIM:613953
Maternally-Inherited Diabetes And Deafness	Abnormal circulating lipid concentration, Arrhythmia, Renal insufficiency, Proteinuria, Glomerulo...	ORPHA:225
Juvenile Paget Disease	Recurrent fractures, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabecularization, Cranial h...	ORPHA:2801
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria	OMIM:619813
Pseudohypoparathyroidism, Type Ib	Obesity, Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Hypophosphatemia, Reduced bone mineral density	ORPHA:2611
Teratoma, Pineal	Polyuria, Polydipsia	OMIM:273120
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Positive ferric chloride test	OMIM:229100
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Hyperprolinemia, Type I	Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria	OMIM:239500
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Dysmyelination With Jaundice	Hydroureter, Hypoplasia of penis, Hydronephrosis	OMIM:224250
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circula...	OMIM:612780
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Nephrotic Syndrome, Type 21	Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St...	OMIM:618594
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissue, Decreased HDL c...	OMIM:604367
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Parathyroid Carcinoma	Nephrolithiasis, Hypophosphatemia, Lipoma, Chondrocalcinosis, Nephroblastoma, Osteoporosis, Hyper...	ORPHA:143
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Elevated circulating creatini...	OMIM:274150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia	OMIM:300539
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n...	OMIM:602088
Glycogen Storage Disease Ib	Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Enlarged kidney, Focal seg...	OMIM:232220
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ...	OMIM:191800
Glycogen Storage Disease Vii	Increased total bilirubin, Gout, Hyperuricemia, Exercise-induced myoglobinuria	OMIM:232800
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest...	OMIM:620058
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Increased total bilirubin, Jaundice, Renal insufficiency	ORPHA:890
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid	OMIM:206400
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Weight ...	ORPHA:97289
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis	OMIM:249660
Hypocalcemic Vitamin D-Dependent Rickets	Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Hypocalcemia, Sparse bone t...	ORPHA:289157
Acquired Central Diabetes Insipidus	Weight loss, Polydipsia, Pollakisuria	ORPHA:95626
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomer...	OMIM:617006
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin, Elevated circulating alkaline phosphatase concentration	OMIM:174050
Agammaglobulinemia 2, Autosomal Recessive	Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren...	OMIM:613500
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrolithiasis, Hypophosphatemia, Lipoma, Chondrocalcinosis, Nephroblastoma, Osteoporosis, Hyper...	ORPHA:99880
Ethylene Glycol Poisoning	Renal tubular dysfunction, Hypocalcemia, Hematuria, Renal insufficiency, Decreased urine output, ...	ORPHA:31826
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