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Gene: Actn4 MGI:1890773

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Gene Summary

Name:
actinin alpha 4
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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

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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 Dorso Ventral

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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Histopathology

Images

4 Images

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Legacy Phenotype Associated Images
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 107 images

Actn4tm1a(EUCOMM)Wtsi
corneal opacity, HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
corneal vascularization, HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:603278
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... 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
Short stature, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,... OMIM:618176
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... OMIM:619263
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Nephrotic Syndrome, Type 26
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:620049
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis OMIM:182690
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... OMIM:308990
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... OMIM:613092
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... OMIM:614377
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:614455
Galloway-Mowat Syndrome 2, X-Linked
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephri... OMIM:301006
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:603278
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... OMIM:601894
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... OMIM:137950
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... OMIM:615008
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome OMIM:614199
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Proteinuria, Pachygyria, Steroid-resistant nephrotic syndrome, Fo... OMIM:617731
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Nephrotic Syndrome, Type 4
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... OMIM:256370
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... OMIM:616892
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria ORPHA:2613
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinu... OMIM:617006
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Small for gestational age, Glomerular scler... OMIM:256300
Galloway-Mowat Syndrome 6
Decreased body weight, Short stature, Nephrotic syndrome, Growth delay, Proteinuria, Focal segmen... OMIM:618347
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... OMIM:617609
Galloway-Mowat Syndrome 4
Congenital nephrotic syndrome, Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease,... OMIM:617730
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Obesity OMIM:615987
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... ORPHA:54370
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency, Obesity OMIM:615995
Frasier Syndrome
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:136680
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Short stature, Beta 2-microglobulinuria, Medullary nephrocalcin... OMIM:611555
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... ORPHA:656
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... OMIM:613496
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... ORPHA:567548
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Intrauterine growth r... OMIM:617056
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria OMIM:161900
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation OMIM:189800
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Bardet-Biedl Syndrome 16
Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal... OMIM:615993
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract,... ORPHA:99885
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... ORPHA:567544
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613913
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease OMIM:602114
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Obesity, Growth delay, Proportionate short stature, Hydronephrosis OMIM:619269
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Short stature, Nephrotic syndrome, Stage... OMIM:618348
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:608709
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613779
Galactosemia I
Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Albuminuria OMIM:230400
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:161950
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Growth delay, Proteinuria OMIM:619428
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Proteinuria, Hematuria ORPHA:2134
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... OMIM:617575
Frasier Syndrome
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... ORPHA:347
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... OMIM:609814
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... ORPHA:84090
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... ORPHA:63
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Preeclampsia
Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ... ORPHA:275555
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... ORPHA:567546
Nephrosialidosis
Nephropathy, Renal insufficiency, Death in childhood, Nephrotic syndrome OMIM:256150
Nephronophthisis
Renal insufficiency ORPHA:655
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Simplified gyral pattern, Podocyte foot process effacement, Diffu... OMIM:619609
Ethanolaminosis
Cardiomegaly OMIM:227150
Cednik Syndrome
Short stature, Nephrotic syndrome, Pachygyria, Proteinuria, Polymicrogyria ORPHA:66631
Nephrotic Syndrome, Type 21
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... OMIM:618594
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Short stature, Low-molecular-weight proteinuria, Nephrocalci... OMIM:300555
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Micropenis, Postnat... OMIM:300067
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... OMIM:615861
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Par... ORPHA:439232
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Focal segmental glomerulosclerosis, Recurr... OMIM:607426
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Galloway-Mowat Syndrome 3
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Simplified gyral pattern, Liss... OMIM:617729
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa... ORPHA:276621
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Nephrotic syndrome, Small for gestational age, Mucopolysacchariduria, Decreased ci... OMIM:215250
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Microscopic hematuria ORPHA:79087
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Short stature, Stage 5 chronic kidney disease, Small for gestational... ORPHA:1830
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Failure to thrive, Proteinuria, Membranoproliferative glomerulonephritis OMIM:619858
Amyloidosis, Familial Visceral
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome OMIM:105200
Galactose Epimerase Deficiency
Aminoaciduria, Growth delay, Weight loss ORPHA:79238
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Stage 5 chronic kidney disease, Decreased circulating antibody level, Small f... OMIM:242900
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Bardet-Biedl Syndrome 19
Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis OMIM:615996
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... ORPHA:93126
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Simplified gyral pattern, Obesity OMIM:614231
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... OMIM:619113
Al Amyloidosis
Weight loss, Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, ... ORPHA:85443
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Aicardi-Goutieres Syndrome 9
Weight loss, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Intrauterine gro... OMIM:619487
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Death in infancy, Glycosuria, Lissencephaly, Failure to th... OMIM:613404
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Senior-Loken Syndrome 8
Stage 5 chronic kidney disease, Nephronophthisis, Global glomerulosclerosis, Glomerular subepithe... OMIM:616307
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... ORPHA:97362
Hypercalcemia, Infantile, 1
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis, Nephrolit... OMIM:143880
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:254900
Retinitis Pigmentosa 59
Failure to thrive, Renal insufficiency, Micropenis, Intrauterine growth retardation OMIM:613861
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Short stature, Chronic kidney disease ORPHA:3156
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic he... OMIM:619525
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Short stature OMIM:620010
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Joubert Syndrome 4
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... OMIM:609583
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Short stature, Proteinuria, Nephrotic syndrome ORPHA:1192
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Increased circulating IgG4 level, Renal interstitial immunoglobulin ... ORPHA:449395
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria ORPHA:375
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis OMIM:619603
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria ORPHA:54057
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis,... ORPHA:29072
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, ... OMIM:614376
Glycogen Storage Disease Ia
Short stature, Enlarged kidney, Delayed puberty, Decreased glomerular filtration rate, Growth del... OMIM:232200
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Abnormality of the kidney, Failure to thrive, Delayed puberty, Growth delay, Prote... ORPHA:369
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive OMIM:612075
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:203780
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... OMIM:614723
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:104200
Xanthinuria, Type Ii
Xanthinuria, Renal insufficiency, Nephrolithiasis, Increased urinary hypoxanthine OMIM:603592
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Gray matter heterotopia, Polymicrogyria, Failure to thrive, Hypospadias, Albuminur... OMIM:214100
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... ORPHA:228302
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Renal insufficiency, Perigl... OMIM:619468
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Renal insufficiency, Proteinuria OMIM:134610
Familial Reactive Perforating Collagenosis
Chronic kidney disease ORPHA:79147
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc... OMIM:602522
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Bone marrow hypocellularit... OMIM:617303
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Duplicated collecting system, Intrauterine growth retardation, Postnatal growt... OMIM:617093
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria OMIM:166300
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased body weight ORPHA:890
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Generalized aminoacidur... OMIM:613388
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Acute kidney injury, Decre... ORPHA:859
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Increased blood urea nitrogen, Abnormal renal physiology, Glomerular sclerosis OMIM:223900
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Obesity, Chronic k... ORPHA:261222
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612926
Denys-Drash Syndrome
Nephroblastoma, Neonatal death, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidn... OMIM:194080
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea ni... ORPHA:251004
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn... OMIM:300009
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria OMIM:610205
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Laurence-Moon Syndrome
Short stature, Hypoplasia of penis, Renal insufficiency, Obesity, Displacement of the urethral me... ORPHA:2377
Systemic Sclerosis
Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminuria, Proteinuria, Ren... ORPHA:90291
Lcat Deficiency
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... ORPHA:650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612924
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Stage 4 chronic kidney disease, Acute kidney injury, Ren... ORPHA:411536
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency, Short stature ORPHA:474
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... OMIM:308940
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive,... OMIM:191800
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... ORPHA:95455
Galloway-Mowat Syndrome 1
Short stature, Nephrotic syndrome, Small for gestational age, Diffuse mesangial sclerosis, Protei... OMIM:251300
Glycogen Storage Disease Ib
Short stature, Enlarged kidney, Delayed puberty, Decreased glomerular filtration rate, Proteinuri... OMIM:232220
Fanconi Renotubular Syndrome 1
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaci... OMIM:134600
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Short stature, Death in infancy, Hematuria, Proteinuria, Death in c... OMIM:616901
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Lissencephaly, Short stature ORPHA:281090
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Renal insufficiency ORPHA:28
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Renal insufficiency, Death in infancy, Lacticaciduria OMIM:619386
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Failure to thrive, Growth delay, Nephrocalcinosis, Renal i... OMIM:276700
Fanconi Anemia, Complementation Group O
Short stature, Death in infancy, Stage 5 chronic kidney disease, Miscarriage, Renal cyst, Neonata... OMIM:613390
Dyschondrosteosis-Nephritis Syndrome
Short stature, Hematuria, Mesomelic short stature, Nephropathy, Proteinuria, Intrauterine growth ... ORPHA:1765
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Glomerular sclerosis ORPHA:247691
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Increased blood urea nitrogen, Failure to thrive, Polyuria, Proteinuria, Hype... OMIM:613845
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease OMIM:617661
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Weight loss, Nephrotic syndrome, Abnormality of the kidn... ORPHA:91139
Cystinosis
Aminoaciduria, Short stature, Failure to thrive, Nephropathy, Delayed puberty, Proteinuria, Renal... ORPHA:213
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Large for gestational age, Nephrocal... OMIM:616026
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Nephropathy, Decreased glomerular filtration rate, Renal insuff... OMIM:162000
Cryoglobulinemia, Familial Mixed
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease OMIM:123550
Free Sialic Acid Storage Disease
Proteinuria, Failure to thrive in infancy, Nephrotic syndrome ORPHA:834
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Death in infancy, Nephrotic syndrome, Membranoproliferative glomerulon... OMIM:619644
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Cachexia, Proteinuria ORPHA:2774
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Myh9-Related Disease
Nephropathy, Renal insufficiency, Nephritis, Proteinuria ORPHA:182050
Fanconi Renotubular Syndrome 3
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p... OMIM:615605
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Reversible renal failure, Acute tubulointerstitial nephritis OMIM:607665
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas... OMIM:120330
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Short stature, Low-molecular-weight proteinuria, N... OMIM:300554
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria ORPHA:510
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Megabladder, Congenital
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Fetal megacystis, Multiple glomerular cysts OMIM:618719
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... OMIM:615862
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Death in infancy, Renal cyst, Pachygyria, Renal hypoplas... OMIM:614922
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Apparent Mineralocorticoid Excess
Short stature, Renal sodium wasting, Failure to thrive, Nephrocalcinosis, Renal insufficiency, Ab... ORPHA:320
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... OMIM:146255
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Renal insufficiency, Hematuria OMIM:611773
Glucose-Galactose Malabsorption
Weight loss, Hematuria, Failure to thrive, Renal insufficiency, Nephrolithiasis ORPHA:35710
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Nephrogenic Diabetes Insipidus
Hyposthenuria, Enuresis nocturna, Short stature, Hydroureter, Failure to thrive, Growth delay, Re... ORPHA:223
Malaria
Acute kidney injury ORPHA:673
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Wild Type Attr Amyloidosis
Weight loss, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency ORPHA:330001
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Failure to thrive, Hypospadias, Mild proteinuria, Growth delay, Renal ... OMIM:619147
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Growth delay, Pachygyria, Renal hyp... OMIM:617595
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Renal artery stenosis, Proteinuria OMIM:209010
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Intrauterin... ORPHA:255249
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... ORPHA:3467
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Acute kidney injury, Dysuria, Nephropathy, Macroscopic hematuria, Rena... ORPHA:79233
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerular sclerosis, Ureterocele, Ab... ORPHA:158684
Glycogen Storage Disease Ic
Hematuria, Delayed puberty, Decreased glomerular filtration rate, Proteinuria, Renal insufficienc... OMIM:232240
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Weight loss, Nephrotic ... ORPHA:85450
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Short stature, Proteinuria ORPHA:1307
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency, Hypercalciuria ORPHA:99879
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... OMIM:301050
Ddost-Cdg
Nephrotic range proteinuria, Failure to thrive, Short stature ORPHA:300536
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Acute kidney injury, Renal insufficiency, Hyperuricosuria ORPHA:411543
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Short stature, Nephrotic syndrome, Nephropathy, Pachygyria, Pr... ORPHA:2065
Hypomagnesemia 3, Renal
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... OMIM:248250
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Small for gestational age, Abnormal renal corticomedullary differentiation, Intr... OMIM:616733
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Death in infancy OMIM:618886
Majeed Syndrome
Glomerulopathy, Weight loss, Cachexia, Failure to thrive, Proteinuria, Microscopic hematuria ORPHA:77297
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurrent myoglobinuria, Chronic... ORPHA:368
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Gr... OMIM:606966
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria ORPHA:2715
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Renal Fanconi syndr... OMIM:220110
Muckle-Wells Syndrome
Renal amyloidosis, Renal insufficiency, Short stature OMIM:191900
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Growth delay ORPHA:57
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... OMIM:609057
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:91138
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... OMIM:614748
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis,... ORPHA:49041
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... OMIM:266900
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Proteinuria ORPHA:69126
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency ORPHA:2123
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Decreased platelet glycoprotein Ib OMIM:603585
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Growth delay, Renal tubular dysfunction ORPHA:289916
Melas
Proximal tubulopathy, Short stature, Failure to thrive, Nephropathy, Proteinuria, Focal segmental... ORPHA:550
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... ORPHA:411709
Pulmonary Blastoma
Weight loss ORPHA:64741
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Nephropathy, Hypospadias, Renal insufficiency, Obesity OMIM:194072
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... ORPHA:488627
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Renal Fanconi syndr... ORPHA:436271
Heme Oxygenase 1 Deficiency
Proteinuria, Hematuria, Growth delay, Nephritis OMIM:614034
Alg1-Cdg
Abnormality of the kidney, Renal insufficiency, Nephrotic syndrome ORPHA:79327
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... ORPHA:47159
Central Diabetes Insipidus
Failure to thrive, Nocturia, Weight loss ORPHA:178029
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Proteinuria,... OMIM:274150
Renal Cysts And Diabetes Syndrome
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Reduced sperm motility, Un... OMIM:137920
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Short stature, Chronic kidney disease OMIM:602152
Rhabdoid Tumor
Renal neoplasm, Hematuria, Weight loss ORPHA:69077
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Weight loss, Abnormality... OMIM:256700
Xfe Progeroid Syndrome
Cachexia, Failure to thrive, Severe short stature, Proteinuria, Death in adolescence, Renal insuf... OMIM:610965
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Abnormality of neuronal migration, Stage 5 chronic kidney disease, ... ORPHA:157
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis ORPHA:214
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Complement Factor I Deficiency
Glomerulonephritis, Renal insufficiency, Pyelonephritis, Recurrent urinary tract infections OMIM:610984
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Postnatal growth retardation OMIM:617219
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... ORPHA:18
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Intrauterine growth retardation, Postnatal growth retardation, Multiple bladder dive... ORPHA:2728
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Weight loss, Stage 5 chronic kidney disease, Renal sodi... ORPHA:3337
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Cachexia, Short stature ORPHA:1933
Autoimmune Lymphoproliferative Syndrome, Type Iii
Absent isohemagglutinin level, Reduced natural killer cell activity, Recurrent urinary tract infe... OMIM:615559
Non-Functioning Paraganglioma
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Elevated urinary... ORPHA:94080
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Oliguria, Renal insufficiency, Dark urine, R... ORPHA:99845
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... OMIM:248190
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Renal insufficiency, Hydroxyprolin... ORPHA:79101
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria ORPHA:713
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Nephroblastoma
Nephroblastoma, Hematuria, Weight loss ORPHA:654
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Obesity, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Diffuse Alveolar Hemorrhage
Proteinuria, Hematuria, Weight loss ORPHA:90060
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Renal insufficiency ORPHA:79312
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Renal cyst, Bone marrow hypocellularity, Growth delay, Nephrocalcino... ORPHA:445038
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Short stature, Renal dysplasia, Hypoplasia of penis, Renal hypoplasia, Renal insufficiency ORPHA:85321
Nephronophthisis 19
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Renal interstitial fibrosis, Nephronophth... OMIM:616217
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Obesity, Short stature, Chronic kidney disease OMIM:615630
Renal Nutcracker Syndrome
Weight loss, Hematuria, Renal artery stenosis, Proteinuria, Microscopic hematuria ORPHA:71273
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycystic kidney dysplasi... OMIM:263200
Maternal Uniparental Disomy Of Chromosome 2
Renal dysplasia, Miscarriage, Hypospadias, Renal insufficiency, Intrauterine growth retardation, ... ORPHA:96179
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Chronic kidney disease ORPHA:284426
Babesiosis
Renal insufficiency ORPHA:108
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity OMIM:615986
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Abnormality of neuronal migration, Polycystic kidney dysplasia, Cys... ORPHA:228308
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Fabry Disease
Delayed puberty, Urinary mulberry cells, Proteinuria, Renal insufficiency, Lipiduria OMIM:301500
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Weight loss, Severe short stature, Proportionate short stature, Intrauteri... ORPHA:3208
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Failure to thrive... OMIM:277400
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Short stature OMIM:247410
Hypomagnesemia 2, Renal
Renal insufficiency, Hypocalciuria, Renal magnesium wasting OMIM:154020
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Failure to ... ORPHA:358
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Growth delay OMIM:231530
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... OMIM:118450
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, He... ORPHA:93598
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Igg4-Related Aortitis
Increased circulating IgG4 level, Weight loss, Increased circulating antibody level, Increased ci... ORPHA:449400
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... ORPHA:107
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Proteinuria, Renal Fanconi syndrome, Increased body weight ORPHA:263455
3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic aciduria, Failure to thrive, Hypospadias, 3-Methylglutaric aciduria, Intrauter... OMIM:610198
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency OMIM:204690
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Renal insufficiency, Oliguria, Weight loss ORPHA:188
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:36412
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... OMIM:613550
Arima Syndrome
Renal tubular atrophy, Gray matter heterotopia, Stage 5 chronic kidney disease, Renal sodium wast... OMIM:243910
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, Failure to thr... OMIM:613090
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Nail-Patella Syndrome
Short stature, Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Stage 5 chronic kidney disease, Hematuria, Failure to thrive, Nephropathy, Proteinur... ORPHA:1018
Holocarboxylase Synthetase Deficiency
Organic aciduria, Growth delay, Weight loss ORPHA:79242
Tuberculosis
Weight loss ORPHA:3389
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity, Rhizomelia, Stage 1 chronic kidney disease OMIM:618821
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Mandibuloacral Dysplasia Progeroid Syndrome
Short stature, Proteinuria, Focal segmental glomerulosclerosis, Death in childhood, Postnatal gro... OMIM:619127
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria ORPHA:86818
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Uric acid nephrolithiasis, Short stature, Small for gestational age, Hypospadias, R... OMIM:300661
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Cystinosis, Nephropathic
Failure to thrive in infancy, Aminoaciduria, Weight loss, Short stature, Stage 5 chronic kidney d... OMIM:219800
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Death in infancy, Nephrotic syndrome, Renal cyst, Failure to thrive, Decrea... OMIM:212065
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... OMIM:617641
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i... ORPHA:93552
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Short stature ORPHA:1563
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis OMIM:606995
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Death in infancy, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic... OMIM:208500
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Glomerulopathy, Weight loss, Hematuria, Proteinuria, Renal insuffic... ORPHA:183
Caudal Regression Syndrome
Vesicoureteral reflux, Renal agenesis, Ectopic kidney, Abnormality of the ureter, Renal insuffici... ORPHA:3027
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria OMIM:171420
Boutonneuse Fever
Renal insufficiency, Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Goodpasture Syndrome
Glomerular crescent formation, Weight loss, Cylindruria, Glomerulonephritis, Erythrocyte cylindru... OMIM:233450
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Renal insufficiency, Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morpholo... OMIM:137940
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:611560
Legionnaires Disease
Renal insufficiency, Hematuria, Bone marrow hypocellularity, Proteinuria ORPHA:549
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Osteootohepatoenteric Syndrome
Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss OMIM:619377
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Pseudo-Torch Syndrome 1
Lissencephaly, Failure to thrive, Pachygyria, Renal insufficiency, Polymicrogyria OMIM:251290
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Ureterocele, Renal insuffi... ORPHA:261265
Primary Hyperoxaluria
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... ORPHA:416
Aredyld Syndrome
Abnormality of the ureter, Cachexia, Intrauterine growth retardation, Short stature ORPHA:1133
Variant Abeta2M Amyloidosis
Renal amyloidosis, Chronic kidney disease ORPHA:314652
Galactosemia
Failure to thrive, Renal insufficiency ORPHA:352
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Failure to ... ORPHA:411629
Joubert Syndrome 3
Nephronophthisis, Frontal polymicrogyria, Stage 5 chronic kidney disease OMIM:608629
Lamellar Ichthyosis
Renal insufficiency, Short stature ORPHA:313
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Rhizomelia, Short stature, Hypospadias, Renal insufficiency, Failure t... OMIM:611209
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Short stature OMIM:613819
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Failure to thrive, Proteinuria, Renal insufficiency, Postnatal gro... ORPHA:90321
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Renal insufficiency, Severe postnatal growth retardation, Short... ORPHA:440713
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Recurrent urinary tract infectio... ORPHA:33001
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency ORPHA:27
Enamel-Renal Syndrome
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... ORPHA:1031
Idiopathic Achalasia
Weight loss ORPHA:930
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Renal dysplasia, Death in infancy, Enlarged kidney, Polycystic... OMIM:608836
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Martin-Probst Syndrome
Short stature, Proteinuria, Renal insufficiency, Micropenis, Chordee OMIM:300519
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Hematuria OMIM:192315
Gaucher Disease Type 1
Increased circulating antibody level, Hematuria, Delayed puberty, Growth delay, Proteinuria ORPHA:77259
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Abnormality of T cell physio... ORPHA:2237
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Death in childhood, Mild proteinuria OMIM:619685
Pheochromocytoma
Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis OMIM:171300
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficiency OMIM:614227
Atresia Of Urethra
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... ORPHA:105
Senior-Boichis Syndrome
Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomedullary c... ORPHA:84081
Buschke-Ollendorff Syndrome
Renal insufficiency, Short stature ORPHA:1306
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria OMIM:232800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Pierson Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp... OMIM:609049
Bartter Syndrome Type 4
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Small ... ORPHA:89938
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Imerslund-Gräsbeck Syndrome