Gene Summary

Name:
uromodulin
Synonyms:
Urehd1,  uromucoid,  Tamm-Horsfall glycoprotein,  urehr4

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased blood urea nitrogen level Umodurehr4 HOM Early adult 8.76×10-29
decreased hemoglobin content Umodurehr4 HOM Early adult 2.63×10-05
decreased hematocrit Umodurehr4 HOM Early adult 4.06×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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.

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 Similarity of
phenotypes
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
Riboflavin Deficiency