Gene Summary

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

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 mean corpuscular volume Umodurehr4 HOM Early adult 2.88×10-05
decreased hematocrit Umodurehr4 HOM Early adult 9.94×10-05
decreased hemoglobin content Umodurehr4 HOM Early adult 4.07×10-05
increased blood urea nitrogen level Umodurehr4 HOM Early adult 5.79×10-31

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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
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis 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
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
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
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
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
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
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, Abnormal hemoglobin, Anemia ORPHA:231249
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Immunodeficiency 53
Recurrent otitis media, Recurrent infections, Recurrent respiratory infections OMIM:617585
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al... OMIM:300555
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Neuroblastoma
Elevated urinary catecholamines ORPHA:635
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis OMIM:612286
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polyuria, Recurrent urinary tract infections, H... OMIM:248250
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydr... OMIM:222100
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Abnorma... ORPHA:567544
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis OMIM:300323
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Increased urinary... ORPHA:411543
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria OMIM:300661
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia OMIM:239199
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Elevated alkaline phosphatase ... OMIM:613388
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Orthostatic hypotension OMIM:618182
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... OMIM:618061
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hyperphosphaturia, Hypophosphatemic rickets, Increased circulating beta-C-termi... ORPHA:157215
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting... OMIM:607364
Tuftsin Deficiency
Recurrent infections OMIM:191150
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Hypermagnesiuria ORPHA:34527
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Gastric Cancer
Increased level of L-fucose in urine OMIM:613659
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy ORPHA:2668
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Elevated hepatic transaminase, Nephropathy, Abnormal tubulointerstitial m... OMIM:602114
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Hypertension, Proteinuria ORPHA:2820
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Renal potassium was... ORPHA:18
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... OMIM:616818
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Senior-Loken Syndrome 4
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Glo... OMIM:607665
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Hypokal... OMIM:227810
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tu... ORPHA:2088
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hypercalcemia, Hematuria ORPHA:284400
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Hypophospha... OMIM:300554
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Severe Primary Trimethylaminuria
Trimethylaminuria ORPHA:468726
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia OMIM:240150
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hypomagnesemia, Nephrocalcinosis, Hyperphosphatemia ORPHA:428
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Chondrocalcinosis, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell h... OMIM:241200
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany, Hypercalciuria, Hypermagnesiuria, Abnormal ren... ORPHA:73224
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Acute kidney injury, Elevated hepatic transaminase, Superficial dermal perivascular infl... ORPHA:284426
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Chondrocalcinosis, Renal hypophosphatemia, Osteo... ORPHA:405
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia ORPHA:89937
Essential Fructosuria
Abnormal urine carbohydrate level ORPHA:2056
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Recurrent fractures... OMIM:241530
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:156400
Lesch-Nyhan Syndrome
Hyperuricosuria, Hyperuricemia, Nephrolithiasis OMIM:300322
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc... OMIM:256300
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239510
Tiglic Acidemia
Aminoaciduria OMIM:275190
Hypophosphatasia, Infantile
Nephrocalcinosis, Craniosynostosis, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, ... OMIM:241500
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, High nonceruloplasmin-bound serum c... OMIM:277900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Gout, Renal cyst, Chronic kidney ... OMIM:617056
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:616730
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Calcinosis, Hyperca... OMIM:239200
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Nephrolithiasis OMIM:617343
Camptodactyly 1
Increased urinary taurine OMIM:114200
East Syndrome
Enuresis, Renal salt wasting, Increased circulating renin level, Renal sodium wasting, Hypokalemi... ORPHA:199343
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Transient hyperphenylalaninemia, Elevated urinary 7-biopterin level OMIM:264070
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Hypercalcemia, Nephrolithiasis OMIM:145980
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Osteomalacia, Hypercalcemia,... OMIM:600740
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Elevated total serum tryptase, Renal hypophosphat... ORPHA:94059
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Familial Parathyroid Adenoma
Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Calcium ... ORPHA:99877
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... OMIM:220110
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Lesch-Nyhan Syndrome
Gout, Renal insufficiency, Hematuria, Hyperuricemia ORPHA:510
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypertension, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Polydipsia OMIM:613677
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Chronic kidney disease, Hyperechogenic... OMIM:613845
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... ORPHA:436271
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hyperbilirubi... OMIM:229600
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased circulating re... ORPHA:89938
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Saccharopinuria
Histidinuria, Citrullinuria, Hyperlysinuria OMIM:268700
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Increased blood urea nitrogen, Acute kidney inju... ORPHA:49041
Preeclampsia
Acute kidney injury, Elevated hepatic transaminase, Elevated circulating creatinine concentration... ORPHA:275555
Immunodeficiency 32A
Recurrent infections OMIM:614893
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Apparent Mineralocorticoid Excess
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal urine sodium concen... ORPHA:320
Carnosinemia
Carnosinuria OMIM:212200
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose ... ORPHA:71529
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Hypokalemia, Polyuria, Hydronephrosis OMIM:304900
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Renal salt wasting, Increased circulati... OMIM:610600
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate... OMIM:612933
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Renal insufficiency, Myoglobinuria OMIM:261670
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... ORPHA:2704
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Dicarboxylic Aminoaciduria
Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Renal Tubular Acidosis Iii
Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia OMIM:267200
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Nephronophthisis
Renal insufficiency ORPHA:655
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections... OMIM:612692
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria, Weight loss ORPHA:69077
Joubert Syndrome 35
Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia OMIM:618161
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal tr... ORPHA:93160
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Atrial fibrillation, ... ORPHA:976
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Horseshoe kidney, Hyperphosphaturia OMIM:163200
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Pancreatitis, Parathormone-independent increased r... OMIM:145981
Retinitis Pigmentosa 59
Renal insufficiency, Micropenis, Elevated hepatic transaminase OMIM:613861
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Galactosemia Ii
Hypergalactosemia, Galactosuria OMIM:230200
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Nephrocalcinosis OMIM:617370
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Failure to thrive in infancy, Decreased glomerular filtration rate, Tubulointerstitial... ORPHA:488627
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Ami... OMIM:603358
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Abnormal lactate... ORPHA:54057
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Recurrent pancreatitis, Renal cortical adenoma, Nephroblastoma, P... OMIM:145001
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Hypophosphatasia, Childhood
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Low alkaline phosphatase, Phosphoeth... OMIM:241510
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis OMIM:179800
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Hyperphosphaturia ORPHA:352540
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613502
Denys-Drash Syndrome
Nephropathy, Hypertension, Nephroblastoma, Nephrotic syndrome, Proteinuria ORPHA:220
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Abnormal lactate dehydrogenase level, Hematuria, Proteinuria ORPHA:2134
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Increased blood urea nitrogen, Enlarged kidn... ORPHA:251004
Trimethylaminuria
Tachycardia, Hypertension, Trimethylaminuria OMIM:602079
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Proteinuria OMIM:245900
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnorm... ORPHA:261222
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Hypotonia-Cystinuria Syndrome
Polyphagia, Nephrolithiasis, Failure to thrive, Cystinuria ORPHA:163690
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Acute kidney injury, Arteritis, Nephrotic range pr... ORPHA:93126
Immunodeficiency 51
Recurrent bronchitis, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Recur... OMIM:613953
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Cystinosis
Hypophosphatemia, Rickets, Aminoaciduria, Nephropathy, Hypokalemia, Failure to thrive, Renal insu... ORPHA:213
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hypertension, Hyperlipidemia,... OMIM:232200
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ... OMIM:263800
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Recurrent fractures,... OMIM:239000
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hyperkalemia OMIM:203400
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Hypercalciur... ORPHA:416
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Hypernatremia, Polyuria, Failure to thrive, Polydipsia OMIM:125800
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Abnormal bl... ORPHA:411629
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypocalciuria, Enuresis, Nephropathy, Renal insufficiency, ... ORPHA:1031
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Osteomalacia, Enamel hypomin... OMIM:307800
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Hypernatremia, Polyuria, Failure to thrive, Polydipsia OMIM:304800
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Oculoskeletodental Syndrome
Hypocalcemia, Mucopolysacchariduria, Hypercalciuria, Hypercalcemia, Small for gestational age, Re... OMIM:618440
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Hypertension, Nephrotic syndrome, Proteinuria OMIM:105200
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Bardet-Biedl Syndrome 16
Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal agenesis, Abnorma... OMIM:615993
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Nephropathy, Conjugated hyperbilirubinemia OMIM:613404
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Failure to thrive OMIM:614736
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Liddle Syndrome
Arrhythmia, Nephropathy, Hypertension, Hypokalemia, Cerebral ischemia, Renal insufficiency ORPHA:526
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypertension OMIM:618681
Phenylketonuria
Aminoaciduria ORPHA:716
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hypertension, Hyperlipidemia,... OMIM:232220
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate... ORPHA:2364
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst OMIM:615398
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556037
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:618348
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Weight loss, Hypercalcemia, Failure to thrive, Renal insufficiency, Nep... ORPHA:35710
Glycogen Storage Disease Ic
Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Hyperuricemia, Hypertension, De... OMIM:232240
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hyperuricemia, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, ... OMIM:604367
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556030
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Homocarnosinosis
Carnosinuria OMIM:236130
Valinemia
Hypervalinemia, Valinuria OMIM:277100
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... OMIM:606995
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Functional abnormality of the bladder, Fa... ORPHA:223
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Failure to thrive, Cystinuria ORPHA:163693
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:3156
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Weight loss, Elevated urin... ORPHA:94080
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney... OMIM:617575
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperaldosteronism, Failure to thrive, Hyperkalemia OMIM:264350
Hydroxykynureninuria
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria OMIM:236800
Complement Factor B Deficiency
Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Abnormal circulating lipid concentration, Hypertension, Glomerulopathy, ... ORPHA:225
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Hypokalemia ORPHA:251274
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Primary Parathyroid Hyperplasia
Hypophosphatemia, Osteoporosis, Chondrocalcinosis, Hypercalciuria, Hypercalcemia, Renal insuffici... ORPHA:99878
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Central Diabetes Insipidus
Nocturia, Hyponatremia, Weight loss, Failure to thrive, Polydipsia ORPHA:178029
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Hypophosphatemic Rickets
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Rickets, Craniofacia... ORPHA:437
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney ORPHA:2611
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Enamel hypoplasia, Rickets, Generalized aminoaciduria, Recurrent fractures, Fai... OMIM:264700
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Nephrosialidosis
Renal insufficiency, Nephropathy, Nephrotic syndrome OMIM:256150
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula... OMIM:612780
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis, Weight loss, Hypercalciuria, Hypercalc... ORPHA:143
Glutamate Formiminotransferase Deficiency
Positive ferric chloride test, Aminoaciduria OMIM:229100
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Hyperprolinemia, Type I
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239500
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Juvenile Paget Disease
Osteoporosis, Recurrent fractures, Hyperuricemia, Coarse metaphyseal trabecularization, Cranial h... ORPHA:2801
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Elevated circulating creatine kinase concentration, Hepatic failure, Nephro... OMIM:607426
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria, Weight loss ORPHA:95626
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Nephropathy, Conjugated hyperbilirubinemia OMIM:208085
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Hypertension, Proteinuria OMIM:166300
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Abnormal renal corticomedulla... OMIM:616733
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enamel hypoplasia, Delayed epiphyseal ossification, Rickets, Gene... ORPHA:289157
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Colitis, Nephrotic syndrome, Minimal change glomerulonephritis,... OMIM:617006
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis, Hypercalciuria, Hypercalcemia, Renal h... ORPHA:99880
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne... OMIM:608709
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Ethylene Glycol Poisoning
Hypocalcemia, Hematuria, Renal tubular dysfunction, Renal tubular epithelial necrosis, Renal insu... ORPHA:31826
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Renal insufficiency, Elevated hepatic transaminase ORPHA:890
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Cystinuria
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis