Gene Summary

Name:
collagen, type IV, alpha 4
Synonyms:
[a]4(IV),  E130010M05Rik

IMPC Data Collections

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
small thymus Col4a4em1(IMPC)H HOM Early adult 0.00
enlarged urinary bladder Col4a4em1(IMPC)H HOM Early adult 0.00
cataract Col4a4em1(IMPC)H HOM Early adult 9.24×10-24
small seminal vesicle Col4a4em1(IMPC)H HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Col4a4 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 Col4a4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780

The table below shows human diseases predicted to be associated to Col4a4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne... OMIM:614650
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas... OMIM:615244
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Hematuria, Benign Familial, 2
Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen... OMIM:620320
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment... OMIM:614455
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia, Hearing impairment OMIM:610896
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Senso... OMIM:617575
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Optic atrophy OMIM:249660
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... OMIM:618347
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia OMIM:606996
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... OMIM:613845
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Galloway-Mowat Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Large earlobe, S... OMIM:617731
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Sensorineural hearing impairment, Proteinuria ORPHA:2820
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia, Anemia ORPHA:510
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst OMIM:615987
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre... OMIM:615993
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Hearing impairment ORPHA:79087
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran... OMIM:308940
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Sensorineural hearing impairment... ORPHA:225
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cleft palate, Hearing impairment OMIM:120433
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Angioma, Hereditary Neurocutaneous
Hematuria, Gastrointestinal hemorrhage, Horner syndrome OMIM:106070
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy... ORPHA:18
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Hiatus hernia, Stage 5 chronic kidney disease, Focal segmental glome... OMIM:619603
Amyloidosis, Familial Visceral
Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... ORPHA:488627
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... ORPHA:470
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate OMIM:618182
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... ORPHA:3467
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Abnormal renal corticom... OMIM:616733
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Central Diabetes Insipidus
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia ORPHA:178029
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... OMIM:232200
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Glycogen Storage Disease Ib
Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232220
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive OMIM:125800
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ... ORPHA:340
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive OMIM:304800
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hyperlipidemia, Hematuria, Focal segmental ... OMIM:232240
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... OMIM:607426
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur... ORPHA:411536
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia ORPHA:375
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Sensorineural hearing impairment ORPHA:2668
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... OMIM:245900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive... ORPHA:276621
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti... OMIM:617729
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat... OMIM:274150
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Hypsarrh... OMIM:619428
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Elevated urinary norepinephrine level, Paroxysmal vertigo, Ele... ORPHA:94080
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Functional abnormality of the blad... ORPHA:223
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuria, Aminoacidur... OMIM:239200
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney ORPHA:79327
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ... ORPHA:439232
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoaciduria, Hypophos... ORPHA:213
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Sensorineural hearing impairment, Optic atrophy, Bilateral cleft lip and palate ORPHA:1473
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Cataract 42
Cataract, Developmental cataract OMIM:115900
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia ORPHA:214
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Anemia ORPHA:69077
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... OMIM:300555
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... ORPHA:347
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Diffuse Alveolar Hemorrhage
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... ORPHA:90060
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Elevated circulating creatinine concentration, Cleft palate, Hy... OMIM:154230
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I... OMIM:614034
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Hiatus ... OMIM:251300
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Cednik Syndrome
Proteinuria, Sensorineural hearing impairment, Optic atrophy, Nephrotic syndrome, Macrotia, Abnor... ORPHA:66631
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Thickened... OMIM:619487
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Bone-marrow foam cells OMIM:256150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Glycogen Storage Disease Iv
Failure to thrive, Esophageal varix, Tubulointerstitial fibrosis OMIM:232500
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive... ORPHA:29072
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration... OMIM:620010
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:620235
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Lowe-Kohn-Cohen Syndrome
Nephropathy, Sensorineural hearing impairment, Anorectal anomaly, Anal atresia ORPHA:2408
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 34
Congenital sensorineural hearing impairment, Failure to thrive, Elevated circulating creatinine c... OMIM:617872
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin le... OMIM:612780
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Chronic kidney disease, Neutropenia, Hyperammonemia, Iron defi... ORPHA:1667
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem... OMIM:146255
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulon... ORPHA:1830
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Sensorineural hearing impairment, Hyperuricosuria, Hyperuricem... ORPHA:411543
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... OMIM:619386
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased body weight, Increased total bilirubin ORPHA:890
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia, Sensorineural hearing impairment ORPHA:3222
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Sensorineural hearing imp... ORPHA:1018
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating ren... OMIM:263800
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Galactosemia Iii
Sensorineural hearing impairment, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to thrive OMIM:230350
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Granulom... OMIM:619858
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Proximal tubulopathy, Hypoalbuminemia, Renal cyst OMIM:602579
Trichomegaly
Cataract OMIM:190330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... OMIM:263200
Retinitis Pigmentosa 59
Renal insufficiency, Failure to thrive, Sensorineural hearing impairment, Micropenis OMIM:613861
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Homozygous 11P15-P14 Deletion Syndrome
Congenital sensorineural hearing impairment, Generalized aminoaciduria, Renal tubular dysfunction... OMIM:606528
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failu... ORPHA:79312
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia, Nephrotic syndrome, Focal segme... OMIM:617303
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Gastroesophageal reflux, ... OMIM:223900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Pancreatitis OMIM:251000
Nathalie Syndrome
Cataract ORPHA:2663
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia OMIM:615986
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis OMIM:614582
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... ORPHA:2838
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Sensorineural hearing... OMIM:301050
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocy... OMIM:209950
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... OMIM:601678
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Sple... OMIM:276700
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... ORPHA:85443
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Normochromic anemi... ORPHA:247691
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... OMIM:241200
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Thrombocytopenia, Stag... OMIM:242900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevated circulating... OMIM:619644
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Addic... ORPHA:520
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hearing impairment OMIM:615996
Arima Syndrome
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Optic atrophy, Hematuria... OMIM:243910
Muckle-Wells Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Renal amyloidosis, Pr... OMIM:191900
Urachal Cyst
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abscess, Urachus fistula,... ORPHA:488
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Optic atrophy, Elevated circulating creatine kinase concentra... OMIM:616239
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria OMIM:560000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Sensorineural hearing impairment, Nephrotic syndrome, Proteinuria ORPHA:1192
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Congenital hypoplastic anemia, Sple... ORPHA:77297
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Hyperlysinuria, Hyperlysinemia OMIM:238750
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Oroticaciduria,... OMIM:258900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Sensorineural hearin... ORPHA:2377
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo... OMIM:617093
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... ORPHA:79259
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Alkaptonuria
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... ORPHA:411629
Familial Reactive Perforating Collagenosis
Chronic kidney disease, Abnormal pinna morphology ORPHA:79147
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria ORPHA:91138
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Hyperuricemia, Hprt-Related
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria OMIM:300323
Argininemia
EEG abnormality, Diaminoaciduria, Hyperammonemia ORPHA:90
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, Neutropenia, An... ORPHA:289916
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi... ORPHA:324525
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... ORPHA:507
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Nephrotic syndrome... ORPHA:85445
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss ORPHA:654
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Hematuria, Lymphopenia ORPHA:549
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... OMIM:610984
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolys... OMIM:215250
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... OMIM:613070
Pseudo-Torch Syndrome 3
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Acute kidney injury, Con... OMIM:618886
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Weight loss ORPHA:95626
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia ORPHA:100024
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Nephrocalcinosis, Glycos... OMIM:616026
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia ORPHA:2123
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Failure to thrive in infancy, Hyper... ORPHA:6
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Macrotia, Optic atrophy, I... ORPHA:90321
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Failure to thrive, Proteinuria, Abnormality of the kidney ORPHA:369
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... OMIM:191800
Avian Influenza
Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ... ORPHA:454836
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive OMIM:610965
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Leukopenia, Abnormal... ORPHA:93552
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... ORPHA:36234
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Hematuria ORPHA:36412
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Aggressive behavior, Hype... ORPHA:79101
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Congenital sensorineura... OMIM:619147
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm... ORPHA:107
Castleman Disease
Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Wei... ORPHA:160
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hematuria, Abnormality of the bladder ORPHA:1839
Alstrom Syndrome
Renal insufficiency, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis,... OMIM:203800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper... ORPHA:713
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Galactosemia Iv
Cataract OMIM:618881
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Vertigo, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Anemia ORPHA:27
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid... ORPHA:57
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Gastrointestinal hemorrhage, Hyperuricemia ORPHA:35909
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Sensorineural hearing impair... ORPHA:1307
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Orthostatic Hypotension 1
Orthostatic hypotension, Increased blood urea nitrogen, High palate, Hypomagnesemia, Nocturia OMIM:223360
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Malabsorption, Hypercalciuria, Generaliz... OMIM:227810
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Anteriorly placed anus, Low-... OMIM:617661
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Deafness, Autosomal Dominant 23
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Hearing impairment ORPHA:86818
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Babesiosis
Hemolytic anemia, Renal insufficiency, Anorexia, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:108
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Acute leukemia, Unilateral renal agenesis, Attention deficit hyperactivity d... ORPHA:281090
Simple Cryoglobulinemia