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
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
abnormal retina morphology Actn4tm1a(EUCOMM)Wtsi HET   Early adult 1.73×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Dorso Ventral 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.

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
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Galloway-Mowat Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pachygyria, Ster... OMIM:617731
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacem... OMIM:617006
Galloway-Mowat Syndrome 6
Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... OMIM:618347
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Severe short stature, Proteinuria ORPHA:2820
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c... OMIM:617730
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst OMIM:615987
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:613496
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath... OMIM:617056
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... OMIM:615993
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... ORPHA:99885
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Obesity, Growth delay, Moderate albuminuria, Hydronephrosis OMIM:619269
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Increased blood urea nitrogen, H... OMIM:614817
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Short stature, Minimal change glomerulonephritis, Stage... OMIM:618348
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Failure to thrive OMIM:230400
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Death in childhood OMIM:256150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Nephronophthisis
Renal insufficiency ORPHA:655
Lessel-Kubisch Syndrome
Renal insufficiency, Short stature, Renal hypoplasia OMIM:618681
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Simplified gyral pattern, Stage 5 chronic kidney diseas... OMIM:619609
Ethanolaminosis
Cardiomegaly OMIM:227150
Cednik Syndrome
Proteinuria, Short stature, Nephrotic syndrome, Pachygyria, Polymicrogyria ORPHA:66631
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Dent Disease 2
Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ... OMIM:300555
Lissencephaly, X-Linked, 1
Death in infancy, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Micropeni... OMIM:300067
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Short stature, Pachygyria, Stage 5 chronic kidney disea... OMIM:617729
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Mu-Heavy Chain Disease
Nephropathy, Increased circulating antibody level, Bence Jones Proteinuria, Weight loss ORPHA:100024
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Short stature, Nephrotic syndrome, Mucopolysacchariduria,... OMIM:215250
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Small for gestational age, Short stature, Minimal change glomerul... ORPHA:1830
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Galactose Epimerase Deficiency
Growth delay, Aminoaciduria, Weight loss ORPHA:79238
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Small for gestational age, Abnormal immunoglobulin level, Dispr... OMIM:242900
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:619487
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Simplified gyral pattern, Moderate albuminuria, Obesity OMIM:614231
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood urea nitrogen... ORPHA:94088
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Lissencep... OMIM:613404
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic kidney disease,... ORPHA:97362
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Medu... OMIM:143880
Retinitis Pigmentosa 59
Intrauterine growth retardation, Renal insufficiency, Failure to thrive, Micropenis OMIM:613861
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Increas... ORPHA:449395
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic he... OMIM:619525
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Short stature OMIM:620010
Senior-Loken Syndrome
Chronic kidney disease, Short stature, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Short stature ORPHA:1192
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:375
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Glycogen Storage Disease Ia
Proteinuria, Short stature, Nephrolithiasis, Growth delay, Focal segmental glomerulosclerosis, De... OMIM:232200
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Stage 5 chronic kidney disease, Renal... OMIM:614376
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Short stature, Growth delay, Delayed puberty, Failure to ... ORPHA:369
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Polymicrogyria, Gray matter heterotopia, Albuminuria, Aminoaciduria, Death in childh... OMIM:214100
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Xanthinuria, Type Ii
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria OMIM:603592
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Increa... OMIM:612925
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Familial Reactive Perforating Collagenosis
Chronic kidney disease ORPHA:79147
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Death in childhood, Nephrotic syndrome, Focal segmental glomerulosclerosis, Increase... OMIM:617303
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour... ORPHA:261222
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Growth delay, Abnormal renal physiology, Increased blood urea nitrogen OMIM:223900
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased body weight ORPHA:890
Transcobalamin Deficiency
Methylmalonic aciduria, Decreased circulating antibody level, Decreased circulating total IgM, De... ORPHA:859
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Increased blood urea nitrogen, Acute k... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Increased blood urea nitrogen, Acute k... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Increased blood urea nitrogen, Acute k... OMIM:612926
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Macroscopic hematuria, Obes... ORPHA:251004
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia, Obesity OMIM:615996
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Short stature, Obesity, Displacement of the urethral me... ORPHA:2377
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Increased blood urea nitrogen, Acute k... OMIM:612924
Systemic Sclerosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... ORPHA:90291
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi... ORPHA:411536
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Short s... OMIM:251300
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Jeune Syndrome
Nephropathy, Renal insufficiency, Short stature, Nephronophthisis ORPHA:474
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... OMIM:308940
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Failure to thrive ORPHA:28
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Short stature, Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria, Intra... ORPHA:324525
Glycogen Storage Disease Ib
Proteinuria, Short stature, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomer... OMIM:232220
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Short stature, Unilateral renal agenesis, Lissencephaly ORPHA:281090
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Proteinuria, Short stature, Hematuria, Tubulointerstitial nephritis, Death in c... OMIM:616901
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia OMIM:617661
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood urea nitrogen,... OMIM:613845
Tyrosinemia, Type I
Renal insufficiency, Nephrocalcinosis, Growth delay, Renal Fanconi syndrome, Glomerular sclerosis... OMIM:276700
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Aminoaciduria, Lacticaciduria, Death in infancy OMIM:619386
Fanconi Anemia, Complementation Group O
Death in infancy, Short stature, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonata... OMIM:613390
Dyschondrosteosis-Nephritis Syndrome
Proteinuria, Short stature, Hematuria, Mesomelic short stature, Nephropathy, Intrauterine growth ... ORPHA:1765
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... OMIM:614922
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Short stature, Large for gestational age, Nephrocalcinosis, Amino... OMIM:616026
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Renal tubular dysfunction, Aminoaciduria, Delaye... ORPHA:213
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy ORPHA:834
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... OMIM:162000
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Immunodeficiency 91 And Hyperinflammation
Death in infancy, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic... OMIM:619644
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... OMIM:120330
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency ORPHA:510
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Growth delay, Glycosuria, Aminoaciduria, Low-molecular-weight p... OMIM:615605
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Neph... OMIM:300554
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Apparent Mineralocorticoid Excess
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Renal ... ORPHA:320
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Malaria
Acute kidney injury ORPHA:673
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas... OMIM:617595
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive ORPHA:35710
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Short stature, Functional abnormality of the bladder, Enuresis ... ORPHA:223
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Delayed puberty,... OMIM:232240
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Small for gestational age, Growth delay, Death in childhood, Mild proteinuri... OMIM:619147
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... ORPHA:79233
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Weight loss, Tub... ORPHA:85450
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature ORPHA:1307
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria, Short stature ORPHA:300536
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Galloway-Mowat Syndrome
Proteinuria, Short stature, Abnormality of neuronal migration, Nephrotic syndrome, Nephropathy, P... ORPHA:2065
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury ORPHA:411543
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Abnormal renal corticomedullary differen... OMIM:616733
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive ORPHA:77297
Pseudo-Torch Syndrome 3
Death in infancy, Acute kidney injury, Proteinuria OMIM:618886
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Muckle-Wells Syndrome
Renal insufficiency, Renal amyloidosis, Short stature OMIM:191900
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Myoglobinuria, Acute kidney injury ORPHA:57
Central Diabetes Insipidus
Failure to thrive, Nocturia, Weight loss ORPHA:178029
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature ORPHA:2715
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Growth delay ORPHA:289916
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Aminoaciduria, Ren... OMIM:220110
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Cryoglobulinemic Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:91138
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Melas
Proteinuria, Short stature, Focal segmental glomerulosclerosis, Proximal tubulopathy, Nephropathy... ORPHA:550
Papa Syndrome
Proteinuria, Increased circulating antibody level ORPHA:69126
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria OMIM:603585
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Gray matter heterotopia, Tubular luminal dilatation, Renal corticomedullary ... OMIM:219730
Pulmonary Blastoma
Weight loss ORPHA:64741
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Hypercalciuria, Generali... OMIM:227810
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Heme Oxygenase 1 Deficiency
Hematuria, Growth delay, Nephritis, Proteinuria OMIM:614034
Hyperprolinemia Type 2
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... ORPHA:79101
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosi... ORPHA:157
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Microscopic hematuria, Abn... OMIM:274150
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis OMIM:602152
Rhabdoid Tumor
Hematuria, Renal neoplasm, Weight loss ORPHA:69077
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Non-Functioning Paraganglioma
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... ORPHA:94080
Xfe Progeroid Syndrome
Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Death in adolescence, Failure t... OMIM:610965
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... ORPHA:18
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... ORPHA:2728
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis OMIM:617219
Complement Factor I Deficiency
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis OMIM:610984
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Short stature, Methylmalonic aciduria ORPHA:1933
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Reduced natural killer cell activity, Stage 5 chronic kidney ... OMIM:615559
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss ORPHA:654
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Failure to thrive ORPHA:79312
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methylglutaconic aciduria, Bon... ORPHA:445038
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity OMIM:616629
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Weight loss, Vesicoureteral reflux, Intrauteri... ORPHA:3208
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Short stature, Renal hypoplasia, Renal dysplasia ORPHA:85321
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Short stature, Obesity, Nephronophthisis OMIM:615630
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Bardet-Biedl Syndrome 9
Truncal obesity, Renal insufficiency, Obesity OMIM:615986
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Polymicrogyria, Red-brown urine, Abnormality of neuro... ORPHA:228308
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Miscarriage, Postnatal growth retardation, Chordee, Intrauterin... ORPHA:96179
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Babesiosis
Renal insufficiency ORPHA:108
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Delayed puberty, Lipiduria OMIM:301500
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Weight loss, Increased circula... ORPHA:449400
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu... ORPHA:358
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Short stature OMIM:247410
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypocalciuria OMIM:154020
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
3-Methylglutaconic Aciduria, Type V
Hypospadias, Postnatal growth retardation, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria... OMIM:610198
Systemic Capillary Leak Syndrome
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology ORPHA:188
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Hypocomplementemic Urticarial Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:36412
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Gray matter heter... OMIM:243910
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Rhizomelia, Obesity OMIM:618821
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Hematuria, Nephrotic syndrome OMIM:161200
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Holocarboxylase Synthetase Deficiency
Growth delay, Organic aciduria, Weight loss ORPHA:79242
Tuberculosis
Weight loss ORPHA:3389
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Failure to thrive in infancy, Shor... OMIM:219800
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Short stature, Postnatal growth retardation, Focal segmental glomerulosclerosis, Dea... OMIM:619127
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Urolithiasis, Hyperur... OMIM:300661
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... ORPHA:93552
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Death in infancy, Proteinuria, Renal cyst, Nephrotic syndrome, P... OMIM:212065
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Death in infancy, Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Boutonneuse Fever
Increased circulating IgG level, Renal insufficiency, Increased circulating IgM level ORPHA:83313
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Short stature ORPHA:1563
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Renal insufficiency, Proteinuria, Short stature, Chronic kidney disease, Renal ... OMIM:208500
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial neph... ORPHA:183
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete... ORPHA:261265
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Pseudo-Torch Syndrome 1
Renal insufficiency, Failure to thrive, Lissencephaly, Pachygyria, Polymicrogyria OMIM:251290
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... OMIM:233450
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Osteootohepatoenteric Syndrome
Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss OMIM:619377
Lamellar Ichthyosis
Renal insufficiency, Short stature ORPHA:313
Aredyld Syndrome
Intrauterine growth retardation, Short stature, Abnormality of the ureter, Cachexia ORPHA:1133
Legionnaires Disease
Hematuria, Renal insufficiency, Proteinuria, Bone marrow hypocellularity ORPHA:549
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizomelia, Hemoly... OMIM:611209
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Joubert Syndrome 3
Frontal polymicrogyria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Postnatal growth retardation, Increased blood urea nitrogen, Fa... ORPHA:90321
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency ORPHA:27
Idiopathic Achalasia
Weight loss ORPHA:930
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Isolated Sedoheptulokinase Deficiency
Severe postnatal growth retardation, Renal insufficiency, Short stature, Abnormal renal tubule mo... ORPHA:440713
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease OMIM:613819
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Death in childhood, Mild proteinuria OMIM:619685
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Gaucher Disease Type 1
Proteinuria, Hematuria, Growth delay, Increased circulating antibody level, Delayed puberty ORPHA:77259
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarboxylic aciduria, Ab... OMIM:608836
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Short stature, Chordee, Micropenis OMIM:300519
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Abnormality of T cell physiology, Unilateral renal agenesis, Hydronephrosis,... ORPHA:2237
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... ORPHA:2035
Lysinuric Protein Intolerance
Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Decreased circulat... ORPHA:470
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Dea... OMIM:609049
Bartter Syndrome Type 4
Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary potassium, Im... ORPHA:89938
Imerslund-Gräsbeck Syndrome