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
decreased hemoglobin content Umodurehr4 HOM Early adult 2.63×10-05
increased blood urea nitrogen level Umodurehr4 HOM Early adult 8.76×10-29
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, Hyperuricemia, Decreased glomerular filtration rate, Renal insufficiency, ... OMIM:162000

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

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