Gene Summary

Name:
actinin alpha 4
Synonyms:
N/A

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
abnormal retina morphology Actn4tm1a(EUCOMM)Wtsi HET   Early adult 1.73×10-06
preweaning lethality, incomplete penetrance Actn4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased heart weight Actn4tm1a(EUCOMM)Wtsi HET Early adult 5.00×10-12

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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 Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Histopathology

Images

4 Images

Legacy Phenotype Associated Images

View all 107 images

Human diseases caused by Actn4 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 Actn4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656

The table below shows human diseases predicted to be associated to Actn4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Short stature, Stage 5 chronic kidney disease, Steroid-resist... OMIM:618176
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... OMIM:254900
Galloway-Mowat Syndrome 2, X-Linked
Intrauterine growth retardation, Minimal change glomerulonephritis, Nephrotic syndrome, Short sta... OMIM:301006
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Short stature, Glomerular sclerosis, Stage 5 chronic kidney disease, Polymicr... OMIM:617730
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Pachygyria, Proteinuria OMIM:617731
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Nail-Patella-Like Renal Disease
Short stature, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd... OMIM:617006
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Growth delay, Small for gestational age, Congenital nephrotic syndrome, Gl... OMIM:256300
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy, Severe short stature ORPHA:2820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst, Abnormality of the kidney OMIM:615987
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Retinitis Pigmentosa 59
Failure to thrive, Micropenis, Renal insufficiency, Intrauterine growth retardation OMIM:613861
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... ORPHA:567544
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Medullary nephrocalcinosis, Re... OMIM:611555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Renal cyst, N... OMIM:617056
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Decreased specific pneumococcal antibody level, Mesangial ... OMIM:613496
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... ORPHA:567548
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Failure to thri... ORPHA:99885
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease OMIM:618250
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation OMIM:189800
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613779
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney OMIM:615993
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... OMIM:615244
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... ORPHA:329918
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Growth delay, Proportionate short stature, Obesity OMIM:619269
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Albuminuria, Galactosuria OMIM:230400
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:618348
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cy... ORPHA:730
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot... ORPHA:347
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Pelvic kidn... ORPHA:93101
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... ORPHA:84090
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Growth delay, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria OMIM:619428
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome OMIM:249660
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Nephrosialidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome, Death in childhood OMIM:256150
Preeclampsia
Intrauterine growth retardation, Small for gestational age, Increased body mass index, Acute kidn... ORPHA:275555
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria OMIM:612075
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Cednik Syndrome
Short stature, Nephrotic syndrome, Pachygyria, Polymicrogyria, Proteinuria ORPHA:66631
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Nephrotic syndrome, Short stature, Failure to thrive, Glomerular... OMIM:617729
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Stage 5 chronic kidney disease, Simplified gyral pattern, Diffu... OMIM:619609
Dent Disease 2
Short stature, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic ... OMIM:300555
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... ORPHA:567546
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Nephronophthisis
Renal insufficiency ORPHA:655
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Micropenis, Postnatal growth retardation, Agyria, Gray matter heter... OMIM:300067
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Par... ORPHA:439232
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Nephrotic syndrome, Abnormal... OMIM:242900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary epinephrine, Hematuria, Weight loss, Glomerular sclerosis, Elevated urinary nore... ORPHA:276621
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Proteinuria, Nephrotic syndrome OMIM:105200
Mu-Heavy Chain Disease
Weight loss, Bence Jones Proteinuria, Nephropathy, Increased circulating antibody level ORPHA:100024
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Simplified gyral pattern OMIM:614231
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy ORPHA:1909
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Small for gestational age, Nephrotic syndrome, Decreased circulating IgA l... OMIM:215250
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Minimal change glomeruloneph... ORPHA:1830
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Tubulointer... OMIM:602522
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Increased circulating IgG1 level, Renal int... ORPHA:449395
Galactose Epimerase Deficiency
Weight loss, Aminoaciduria, Growth delay ORPHA:79238
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Failure to thrive, Weight loss, Glomerular sclerosis, Stage 5 ch... OMIM:619487
Bardet-Biedl Syndrome 19
Obesity, Renal insufficiency OMIM:615996
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Galloway-Mowat Syndrome 6
Decreased body weight, Proteinuria, Short stature, Nephrotic syndrome OMIM:618347
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... OMIM:619113
Xfe Progeroid Syndrome
Cachexia, Proteinuria, Renal insufficiency, Severe short stature OMIM:610965
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Al Amyloidosis
Nephrotic syndrome, Weight loss, Renal interstitial amyloid deposits, Increased circulating antib... ORPHA:85443
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Failure to thrive, Membranoproliferative glomerulone... OMIM:619525
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... ORPHA:85445
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Rhizomelia, Short stature OMIM:617661
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Short stature ORPHA:3156
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Weight loss, Glomerular sclerosis,... ORPHA:29072
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:375
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:1192
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Failure to thrive, Albuminuria, Polymicrogyria, Renal cortical micro... OMIM:214100
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... OMIM:194080
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Bone ma... OMIM:617303
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Short stature, Decreased glomerular filtration rate, Nephroli... OMIM:232200
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Stage 5 chroni... OMIM:614376
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Crystalluri... ORPHA:411536
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Short stature, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoa... OMIM:616026
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal insufficiency, Renal amyloidosis OMIM:134610
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Short stature, Failure to thrive, Delayed puberty, Proteinuria, Abnormality of the ... ORPHA:369
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Intrauterine growth retardation, Failure to thrive, Duplicated collecting system,... OMIM:617093
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Short stature, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria,... OMIM:134600
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular l... OMIM:619468
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Short stature, Decreased glomerular filtration rate, Nephroli... OMIM:232220
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Obesity, Proteinuria, Abnormality ... ORPHA:261222
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal... OMIM:613388
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Renal insufficiency, Nephropathy OMIM:162000
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Short stature, Glycosuria, Aminoaciduria, Proteinuria OMIM:615605
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Short stature, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Failure to thrive, Abnormal renal physiology, Hematuria... OMIM:308940
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen OMIM:223900
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased body weight ORPHA:890
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Proximal tubulopathy, Nephroli... OMIM:300009
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Hypercalciuria, Polyuria OMIM:143880
Tyrosinemia, Type I
Renal Fanconi syndrome, Nephrocalcinosis, Failure to thrive, Glomerular sclerosis, Renal insuffic... OMIM:276700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612926
Nephronophthisis 13
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:614377
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Jeune Syndrome
Nephronophthisis, Short stature, Renal insufficiency, Nephropathy ORPHA:474
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy, Rena... ORPHA:79233
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei... ORPHA:650
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Laurence-Moon Syndrome
Short stature, Displacement of the urethral meatus, Obesity, Hypoplasia of penis, Renal insuffici... ORPHA:2377
Transcobalamin Deficiency
Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... ORPHA:859
Systemic Sclerosis
Acute kidney injury, Albuminuria, Chronic kidney disease, Glomerulonephritis, Proteinuria, Renal ... ORPHA:90291
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Nephrotic syndrome, Small fo... OMIM:251300
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Glomerular sclerosis, Nephropathy ORPHA:247691
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Failure to thrive, Recurrent urinary tract infections, Stage 2 chron... OMIM:191800
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Death in infancy, Renal insufficiency, Lacticaciduria OMIM:619386
Simple Cryoglobulinemia
Nephrotic syndrome, Monoclonal immunoglobulin M proteinemia, Weight loss, Nephritis, Mesangial hy... ORPHA:91139
Dyschondrosteosis-Nephritis Syndrome
Mesomelic short stature, Intrauterine growth retardation, Short stature, Hematuria, Nephropathy, ... ORPHA:1765
Syndromic Recessive X-Linked Ichthyosis
Lissencephaly, Renal insufficiency, Short stature, Unilateral renal agenesis ORPHA:281090
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Abnormal penis morphology, Hematuria, Dysuria, Acute kidney injury, Renal t... ORPHA:95455
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Hematuria, Glomerulonephritis OMIM:314000
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Renal insufficiency ORPHA:28
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Familial Renal Glucosuria
Moderate postnatal growth retardation, Renal tubular dysfunction, Glycosuria, Recurrent urinary t... ORPHA:69076
Cystinosis
Renal tubular dysfunction, Short stature, Failure to thrive, Nephropathy, Aminoaciduria, Proteinu... ORPHA:213
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hematuria, Decreased glomerular filtration rate, Proteinuria,... OMIM:232240
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Immunodeficiency 91 And Hyperinflammation
Death in infancy, Nephrotic syndrome, Failure to thrive, Death in childhood, Hemolytic-uremic syn... OMIM:619644
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Reversible renal failure, Acute tubulointerstitial nephritis OMIM:607665
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin... OMIM:220150
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Proteinuria, Nephropathy ORPHA:2774
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, ... OMIM:300554
Myh9-Related Disease
Renal insufficiency, Nephritis, Proteinuria, Nephropathy ORPHA:182050
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency ORPHA:510
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Failure to thrive in infancy, Intrauterine growth retardation, Rhizo... OMIM:611209
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Renal cyst, Nephropathy OMIM:611773
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Pachygyr... OMIM:614922
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Nephronophthisis 1
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... OMIM:146255
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wastin... OMIM:613845
Hereditary Xanthinuria
Hydronephrosis, Decreased urinary urate, Increased urinary hypoxanthine, Xanthine nephrolithiasis... ORPHA:3467
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Nephrogenic Diabetes Insipidus
Growth delay, Short stature, Failure to thrive, Enuresis nocturna, Functional abnormality of the ... ORPHA:223
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss, Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:35710
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Growth delay, Small for gestational age, Failure to thrive, Death in childhood, Mild... OMIM:619147
Hypervitaminosis A, Susceptibility To
Renal insufficiency OMIM:240150
Wild Type Attr Amyloidosis
Nephrotic syndrome, Weight loss, Nephropathy, Proteinuria, Renal insufficiency ORPHA:330001
Liddle Syndrome
Renal insufficiency, Nephropathy ORPHA:526
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Uric acid nephrolithiasis, Crystalluria, Renal insufficienc... ORPHA:411543
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Proteinuria, Renal insufficiency, Short stature ORPHA:1307
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Malaria
Acute kidney injury ORPHA:673
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Glome... ORPHA:158684
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency, Short stature OMIM:602152
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Short stature, Nephrocalcinosis, Failure to thrive, Abnormal uri... ORPHA:320
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Renal artery stenosis, Nephropathy OMIM:209010
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... ORPHA:85450
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... ORPHA:255249
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature OMIM:613390
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Intrauterine growth retardation, Nephrotic syndrome, Short sta... ORPHA:2065
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Renal dysplasia, Abnormal renal corti... OMIM:616733
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Failure to thrive, Urogenital sin... ORPHA:2970
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Hypomagnesemia 3, Renal
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... OMIM:248250
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria, Short stature ORPHA:300536
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Proteinuria, Nephrotic syndrome ORPHA:834
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis ORPHA:99879
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:77297
Pseudo-Torch Syndrome 3
Death in infancy, Acute kidney injury, Proteinuria OMIM:618886
Nephronophthisis 4
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:606966
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chr... OMIM:613095
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Growth delay ORPHA:57
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Neuraminidase Deficiency
Proteinuria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialope... OMIM:256550
Xanthinuria, Type Ii
Renal insufficiency, Nephrolithiasis OMIM:603592
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... OMIM:614748
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Proteinuria ORPHA:69126
Cryoglobulinemic Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:91138
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Glycosur... OMIM:220110
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency ORPHA:2123
Melas
Focal segmental glomerulosclerosis, Short stature, Failure to thrive, Proximal tubulopathy, Nephr... ORPHA:550
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of ... OMIM:263200
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Uric acid nephrolithiasis, Hyperuricosuria OMIM:300661
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Glycosur... ORPHA:436271
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Aminoaciduria, Bicarbonate-wasting renal tu... ORPHA:47159
Muckle-Wells Syndrome
Short stature, Renal insufficiency, Renal amyloidosis OMIM:191900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Growth delay ORPHA:289916
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomeru... ORPHA:488627
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Nephroblastoma, Nephropathy, Obesity, Renal insufficiency OMIM:194072
Pulmonary Blastoma
Weight loss ORPHA:64741
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Growth delay, Proteinuria OMIM:614034
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Short stature ORPHA:2715
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... ORPHA:368
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Reduced sperm motility, Renal cyst, Nephrolithiasis, Glycosuria, S... OMIM:137920
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... ORPHA:2728
Rhabdoid Tumor
Renal neoplasm, Hematuria, Weight loss ORPHA:69077
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Failure to thrive, Proximal tu... ORPHA:18
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea... OMIM:274150
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... ORPHA:411709
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria OMIM:603585
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Obesity OMIM:616629
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease OMIM:618061
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Abnormality of neuronal migration, Myoglobinuria, Tubulointerstitial neph... ORPHA:157
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Growth delay, Failure to thrive, Proximal tubulopathy, Stage 5 chronic ki... ORPHA:411634
Central Diabetes Insipidus
Failure to thrive, Weight loss, Nocturia ORPHA:178029
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Postnatal growth retardation, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Wilson Disease
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Hyperca... OMIM:277900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Membranous nephropathy, Reduced natural killer cell activity, Stage 5 chronic... OMIM:615559
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Short stature, Cachexia, Methylmalonic aciduria ORPHA:1933
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Non-Functioning Paraganglioma
Elevated urinary epinephrine, Weight loss, Hematuria, Elevated urinary norepinephrine, Elevated u... ORPHA:94080
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Nephroblastoma
Weight loss, Hematuria, Nephroblastoma ORPHA:654
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome ORPHA:79327
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Short stature, Renal dysplasia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Glycosuria, Aminoaciduri... OMIM:210550
Diffuse Alveolar Hemorrhage
Weight loss, Hematuria, Proteinuria ORPHA:90060
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Intrauterine growth retardation, Micropenis, Postnatal growth retardation, Hypercalc... OMIM:614732
Genetic Recurrent Myoglobinuria
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... ORPHA:99845
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Methylmalonic aciduria, Failure to thrive, Hematuria, Homocystinuria, Hemolytic... OMIM:277400
Neuroblastoma, Susceptibility To, 1
Elevated urinary vanillylmandelic acid, Failure to thrive, Weight loss, Elevated urinary catechol... OMIM:256700
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Failure to thrive, Renal tubular acidosis, ... OMIM:118450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Renal insufficiency ORPHA:79312
Pseudo-Torch Syndrome 1
Failure to thrive, Pachygyria, Polymicrogyria, Lissencephaly, Renal insufficiency OMIM:251290
3-Methylglutaconic Aciduria Type 7
Growth delay, Nephrocalcinosis, Renal cyst, Bone marrow hypocellularity, 3-Methylglutaconic acidu... ORPHA:445038
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short stature, Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Nep... OMIM:266920
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Renal insufficiency, Increased urine alpha-ketoglutarate concentra... ORPHA:79101
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... OMIM:248190
Complement Factor I Deficiency
Recurrent urinary tract infections, Glomerulonephritis, Pyelonephritis, Renal insufficiency OMIM:610984
Bardet-Biedl Syndrome 9
Obesity, Renal insufficiency, Truncal obesity OMIM:615986
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Decreased circulating IgA level, Proximal tubulopathy, Decreased circulating ... OMIM:212065
Fabry Disease
Lipiduria, Urinary mulberry cells, Proteinuria, Renal insufficiency, Delayed puberty OMIM:301500
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Gray matter heterotopia, Renal corticomedullary cysts OMIM:219730
Babesiosis
Renal insufficiency ORPHA:108
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis, Short stature, Obesity OMIM:615630
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Failure... ORPHA:358
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Glycosuria, Large for gestational age, Proteinuria, Increased body weight ORPHA:263455
Primary Hyperoxaluria Type 1
Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular filtration ra... ORPHA:93598
Lymphedema-Hypoparathyroidism Syndrome
Short stature, Renal insufficiency, Nephropathy OMIM:247410
Birk-Landau-Perez Syndrome
Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Renal Nutcracker Syndrome
Hematuria, Weight loss, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Yao Syndrome
Weight loss, Nephrolithiasis OMIM:617321
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Abnormality of neuronal migration, Myoglobinuria, Tubulointerstitial neph... ORPHA:228308
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:36412
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:86818
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Renal insuf... OMIM:613090
Igg4-Related Aortitis
Hydronephrosis, Weight loss, Increased circulating IgG4 level, Increased circulating IgE level, I... ORPHA:449400
Nephronophthisis 11
Renal tubular atrophy, Growth delay, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chro... OMIM:613550
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Systemic Capillary Leak Syndrome
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology ORPHA:188
3-Methylglutaconic Aciduria, Type V
Hypospadias, Intrauterine growth retardation, Glutaric aciduria, Postnatal growth retardation, 3-... OMIM:610198
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss, Organic aciduria ORPHA:79242
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Tuberculosis
Weight loss ORPHA:3389
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Hematuria, Weight loss, Stage 5 chronic kidney disease, Nephropathy, Chronic k... ORPHA:1018
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Growth delay, Renal dysplasia, Bifid ureter, ... OMIM:617641
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Short stature, Postnatal growth retardation, Death in childho... OMIM:619127
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Abnormality of the urinary system, Hematuria, Nephritis, Dark urine, Proteinu... ORPHA:93552
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolif... OMIM:137940
Nail-Patella Syndrome
Nephrotic syndrome, Short stature, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Hematuria, Weight loss, Glomerulopathy, Proteinuria, Renal insuffic... ORPHA:183
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Short stature, Nephritis, Renal cyst, Chronic kidney disease, Proteinuria, Rena... OMIM:208500
Dahlberg-Borer-Newcomer Syndrome
Short stature, Renal insufficiency, Nephropathy ORPHA:1563
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Postnatal growth retardation, Nephrocalcinosis OMIM:179800
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine OMIM:171420
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Weight loss, Proportionate short stature, Severe short stature, ... ORPHA:3208
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Caudal Regression Sequence
Ureteral duplication, Abnormality of the ureter, Renal agenesis, Vesicoureteral reflux, Ectopic k... ORPHA:3027
Boutonneuse Fever
Increased circulating IgM level, Renal insufficiency, Increased circulating IgG level ORPHA:83313
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Osteootohepatoenteric Syndrome
Failure to thrive, Grade II vesicoureteral reflux, Weight loss, Proteinuria OMIM:619377
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux OMIM:610805
Nephrolithiasis, Calcium Oxalate
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Goodpasture Syndrome
Macroscopic hematuria, Weight loss, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylin... OMIM:233450
Legionnaires Disease
Hematuria, Proteinuria, Renal insufficiency, Bone marrow hypocellularity ORPHA:549
Galactosemia
Failure to thrive, Renal insufficiency ORPHA:352
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Failure to thrive, A... ORPHA:416
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity, Rhizomelia, Stage 1 chronic kidney disease OMIM:618821
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Growth delay, Failure to th... ORPHA:411629
Nephropathy, Deafness, And Hyperparathyroidism
Renal insufficiency, Nephropathy OMIM:256120
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria ORPHA:95626
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Martin-Probst Syndrome
Short stature, Chordee, Micropenis, Proteinuria, Renal insufficiency OMIM:300519
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... ORPHA:33001
Cranioectodermal Dysplasia 4
Short stature, Bone marrow hypocellularity, Stage 5 chronic kidney disease, Nephropathy OMIM:614378
Lamellar Ichthyosis
Renal insufficiency, Short stature ORPHA:313
Aredyld Syndrome
Cachexia, Abnormality of the ureter, Intrauterine growth retardation, Short stature ORPHA:1133
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency ORPHA:27
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Intrauterine growth retardation, Chordee, Renal dysplasia, Postnatal growth retardat... ORPHA:96179
Cystinosis, Nephropathic
Renal Fanconi syndrome, Failure to thrive in infancy, Generalized aminoaciduria, Growth delay, Sh... OMIM:219800
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Cockayne Syndrome Type 1
Failure to thrive, Postnatal growth retardation, Increased blood urea nitrogen, Proteinuria, Rena... ORPHA:90321
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Severe postnatal growth retardation, Renal dysplasia, Unilateral renal agenesis, ... ORPHA:2237
Brachymesomelia-Renal Syndrome
Renal insufficiency OMIM:113470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Ureteral duplication, Hydronephrosis, Polycystic kidney dyspla... OMIM:608836
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Gaucher Disease Type 1
Growth delay, Hematuria, Increased circulating antibody level, Proteinuria, Delayed puberty ORPHA:77259
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
17Q12 Microdeletion Syndrome
Short stature, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureterocele, Renal insuffi... ORPHA:261265
Idiopathic Achalasia
Weight loss ORPHA:930
Buschke-Ollendorff Syndrome
Renal insufficiency, Short stature ORPHA:1306
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss, Proteinuria ORPHA:35858
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Abnormal renal tubule morphology, Severe postnatal growth retardation, Short... ORPHA:440713
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency