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

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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 Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... 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
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
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss ORPHA:139402
Renpenning Syndrome
Growth delay, Severe short stature, Hypospadias, Cachexia ORPHA:3242
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Wolcott-Rallison Syndrome
Renal insufficiency, Short stature, Chronic kidney disease, Growth delay, Decreased body weight ORPHA:1667
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Failure to thrive, Small for gestational age OMIM:609015
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Obesity, Growth delay, Vesicoureteral reflux, Failure t... ORPHA:96147
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Liddle Syndrome 1
Renal insufficiency OMIM:177200
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... OMIM:613159
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Wagro Syndrome
Nephroblastoma, Proteinuria, Obesity OMIM:612469
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
Multiple Myeloma
Increased circulating IgA level, Weight loss, Abnormality of the bladder, Nephrotic syndrome, Inc... ORPHA:29073
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... ORPHA:505248
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Helix Syndrome
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria OMIM:617671
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss ORPHA:97289
Thymoma
Decreased circulating antibody level, Glomerulonephritis, Weight loss ORPHA:99867
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cachexia ORPHA:42
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency, Abnormality of neuronal migration ORPHA:2318
Lead Poisoning
Small for gestational age, Miscarriage, Chronic kidney disease, Increased circulating IgE level, ... ORPHA:330015
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Cystic Echinococcosis
Membranous nephropathy, Increased circulating antibody level, Renal cyst, Weight loss ORPHA:400
Spondyloenchondrodysplasia
Proteinuria, Short stature, Chronic kidney disease, Disproportionate short-trunk short stature, H... ORPHA:1855
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Dicarboxylic aciduria, Exercise-induced myoglobinuria OMIM:201475
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Increased circulating ... ORPHA:48435
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Stage 3 chronic kidney disease OMIM:620366
Huntington Disease-Like 2
Weight loss ORPHA:98934
Castleman Disease
Hematuria, Renal insufficiency, Ureteral obstruction, Weight loss ORPHA:160
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Polymicrogyria ORPHA:220497
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Pyomyositis
Renal insufficiency, Weight loss ORPHA:764
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Obesity, Renal cyst, Vesico... ORPHA:261494
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Proportionate short stature, Intrauterine growth retardation, Myoglobinuri... ORPHA:71212
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Postnatal growth retardation, Increased body weight, Renal tubular acidosis, Myogl... ORPHA:79240
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ... ORPHA:79276
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Renal insufficiency, Micropenis, Short stature OMIM:617159
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Failure to thrive, Stage 5 chronic kidney disease, Methylmalonic ac... OMIM:251000
Uremic Pruritus
Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitrogen ORPHA:94059
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Insulin-Resistance Syndrome Type B
Proteinuria, Abnormality of body weight, Increased circulating IgA level, Increased body weight, ... ORPHA:2298
Scrub Typhus
Renal insufficiency ORPHA:83317
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,... ORPHA:391641
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Increased body weight, Growth delay, Renal tubular acidosis, Delayed puberty, Myog... ORPHA:264580
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... OMIM:208540
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria ORPHA:727
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Short stature, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Gr... ORPHA:79259
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Alstrom Syndrome
Renal insufficiency, Short stature, Tubulointerstitial nephritis, Truncal obesity, Nephritis OMIM:203800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen OMIM:235400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Short stature, Rhizomelic leg shortening, Renal cortical cysts,... ORPHA:397715
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Postnatal growth retardation, Failure to thrive ORPHA:556037
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Increased blood urea n... ORPHA:447
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete... ORPHA:140952
Joubert Syndrome 2
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis OMIM:608091
Meningococcal Meningitis
Renal insufficiency ORPHA:33475
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight... ORPHA:1501
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Refsum Disease
Renal insufficiency ORPHA:773
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Porphyria Variegata
Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Ele... ORPHA:79473
Distal Deletion 10Q
Failure to thrive, Short stature, Postnatal growth retardation, Functional abnormality of the bla... ORPHA:96148
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Postnatal growth retardation, Failure to thrive ORPHA:556030
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Immunoglobulin A Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:761
Relapsing Fever
Hematuria, Abnormality of the urinary system, Acute kidney injury ORPHA:91547
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Cranioectodermal Dysplasia 4
Bone marrow hypocellularity, Short stature, Stage 5 chronic kidney disease OMIM:614378
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Short stature, Enuresis, Renal Fanconi syndrome, Proximal tubulop... OMIM:619743
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Renal cyst OMIM:617478
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Short stature, Postnatal growth retardation,... ORPHA:813
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Abnormality of neuronal migration ORPHA:1454
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Hydr... ORPHA:900
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Oliguria ORPHA:220393
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Short stature, Ectopic kidney, Abnormal renal morphology, Vesicouretera... OMIM:122470
Gaucher Disease Type 3
Proteinuria, Hematuria, Growth delay, Increased circulating antibody level, Delayed puberty ORPHA:77261
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria, Obesity OMIM:619471
Ogden Syndrome
Global glomerulosclerosis, Short stature, Postnatal growth retardation, Growth delay, Polycystic ... OMIM:300855
Snakebite Envenomation
Acute kidney injury ORPHA:449285
Cockayne Syndrome B
Renal insufficiency, Severe short stature, Proteinuria, Small for gestational age, Postnatal grow... OMIM:133540
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Familial Mediterranean Fever
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:342
Giant Cell Arteritis
Hematuria, Renal insufficiency, Weight loss ORPHA:397
Pearson Syndrome
Renal insufficiency, Proteinuria, Small for gestational age, Postnatal growth retardation, Lactic... ORPHA:699
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hematuria, Nephrotic syndrome, D... ORPHA:324
Acute Adrenal Insufficiency
Renal insufficiency, Decreased urinary potassium, Renal salt wasting, Weight loss, Delayed pubert... ORPHA:95409
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Postnatal growth retardation, Bicarbonatur... OMIM:309000
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Renal salt wasting, Weight loss, Hypernatriuria, Failure to t... ORPHA:361
Generalized Pustular Psoriasis
Overweight, Renal insufficiency, Obesity ORPHA:247353
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... OMIM:277900
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Short stature, Delayed puberty OMIM:208060
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... ORPHA:31826
Familial Dysautonomia
Growth delay, Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Chronic Hiccup
Weight loss ORPHA:396
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury ORPHA:90068
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Reticular Dysgenesis
Decreased circulating antibody level, Failure to thrive, Weight loss ORPHA:33355
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria, Weight loss ORPHA:35687
Acute Promyelocytic Leukemia
Hematuria, Weight loss ORPHA:520
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Lymphoid Interstitial Pneumonia
Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Growth delay, Intrauterine growth retardation, Failure to thrive ORPHA:217346
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Methylmalonic aciduria... ORPHA:79282
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Death in infancy, Proteinuria, Short stature, Proximal renal... ORPHA:534
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Obesity, Weight loss, Growth delay, Intrauterine growth retardation ORPHA:251071
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency, Short stature OMIM:226980
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Stevens-Johnson Syndrome
Abnormality of the urethra, Renal insufficiency, Dysuria, Weight loss ORPHA:36426
Hereditary Fructose Intolerance
Growth delay, Renal insufficiency, Chronic kidney disease ORPHA:469
Isaacs Syndrome
Weight loss ORPHA:84142
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Calciphylaxis
Stage 5 chronic kidney disease ORPHA:280062
Polyarteritis Nodosa
Abnormality of the kidney, Weight loss ORPHA:767
Toxic Epidermal Necrolysis
Abnormality of the urethra, Renal insufficiency, Dysuria, Weight loss ORPHA:537
Solitary Fibrous Tumor
Urinary retention, Weight loss ORPHA:2126
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia ORPHA:157973
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections ORPHA:36234
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Sickle Cell Disease
Hematuria, Renal insufficiency OMIM:603903
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Cholera
Decreased urine output, Abnormality of renal excretion, Miscarriage, Acute kidney injury ORPHA:173
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Short stature, Severe postnatal growth retardation, Intrauterin... OMIM:216400
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Hermansky-Pudlak Syndrome 1
Renal insufficiency OMIM:203300
Beta-Ketothiolase Deficiency
Ketonuria, Weight loss ORPHA:134
Mercury Poisoning
Acute kidney injury ORPHA:330021
Orofaciodigital Syndrome I
Short stature, Proteinuria, Abnormal cortical gyration, Gray matter heterotopia, Polycystic kidne... OMIM:311200
Huntington Disease-Like 2
Weight loss OMIM:606438
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Glycogen Storage Disease Xii
Hemoglobinuria, Short stature, Delayed puberty OMIM:611881
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Neuroleptic Malignant Syndrome
Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence ORPHA:94093
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease OMIM:267010
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Glomerulonephritis, Increased circulating IgA level, Increased circulating I... ORPHA:3261
Avian Influenza
Acute kidney injury, Miscarriage ORPHA:454836
Relapsing Polychondritis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:728
Waldenström Macroglobulinemia
Renal insufficiency, Monoclonal immunoglobulin M proteinemia ORPHA:33226
Riddle Syndrome
Short stature, Weight loss, Enuresis nocturna, Decreased circulating total IgM, Decreased circula... ORPHA:420741
Pelizaeus-Merzbacher Disease
Short stature, Abnormality of the urinary system, Failure to thrive in infancy, Cachexia ORPHA:702
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Absent specific antibody response, Failure to thrive, Increased circ... OMIM:102700
Juvenile Huntington Disease
Weight loss ORPHA:248111
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss ORPHA:1842
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Increased circulating IgG4 level, Increased circu... ORPHA:449432
Cranioectodermal Dysplasia 3
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Growth delay... ORPHA:79408
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Alveolar Echinococcosis
Increased circulating antibody level, Abnormal bladder morphology, Renal cyst, Weight loss ORPHA:284
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease ORPHA:25
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retardation, Unilater... ORPHA:90324
Sepsis In Premature Infants
Small for gestational age, Oliguria, Reversible renal failure, Decreased body weight ORPHA:90051
Acute Generalized Exanthematous Pustulosis
Renal insufficiency ORPHA:293173
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease... ORPHA:731
Aymé-Gripp Syndrome
Postnatal growth retardation, Proteinuria, Short stature ORPHA:1272
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level, Weight loss OMIM:209950
Hirschsprung Disease
Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short stature, Obesity, Cachexia ORPHA:85293
Christianson Syndrome
Death in early adulthood, Cachexia ORPHA:85278
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Increased circulating IgE level, Tubulointerstitial nephr... ORPHA:37042
Mast Cell Sarcoma
Mastocytosis, Weight loss ORPHA:66661
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria, Weight loss ORPHA:20
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Anuria, Acute kidney injury ORPHA:90038
Hermansky-Pudlak Syndrome
Renal insufficiency, Weight loss ORPHA:79430
Lujo Hemorrhagic Fever
Renal insufficiency, Microscopic hematuria, Oliguria ORPHA:319213
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Death in early adulthood, Stage 5 chronic kidney disease OMIM:608612
Lysinuric Protein Intolerance
Short stature, Oroticaciduria, Stage 5 chronic kidney disease, Truncal obesity, Aminoaciduria, Hy... OMIM:222700
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Weight loss ORPHA:411602
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Holoprosencephaly
Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Abnormality of neuronal migration... ORPHA:2162
Colchicine Poisoning
Renal insufficiency, Oliguria ORPHA:31824
Shigellosis
Hemolytic-uremic syndrome, Acute kidney injury, Failure to thrive in infancy, Urethritis ORPHA:810
X-Linked Agammaglobulinemia
Agammaglobulinemia, Failure to thrive, Short stature, Weight loss ORPHA:47
Gaucher Disease
Death in infancy, Proteinuria, Short stature, Hematuria, Increased circulating antibody level, De... ORPHA:355
Anemia, Congenital Dyserythropoietic, Type Iv
Micropenis, Hypospadias, Short stature, Weight loss OMIM:613673
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Postnatal growth retardation, Stage 2 chron... OMIM:620305
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor... OMIM:614527
Q Fever
Hematuria, Increased circulating antibody level, Weight loss ORPHA:781
Felty Syndrome
Recurrent urinary tract infections, Bone marrow hypocellularity, Weight loss ORPHA:47612
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis OMIM:181270
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Short stature,... ORPHA:84
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Weight loss ORPHA:54251
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Pleural Mesothelioma
Weight loss ORPHA:50251
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Lysosomal Acid Lipase Deficiency
Cachexia, Renal salt wasting, Abnormal urine potassium concentration, Weight loss, Hypernatriuria... ORPHA:275761
Follicular Lymphoma
Weight loss ORPHA:545
Brucellosis
Small for gestational age, Glomerulonephritis, Miscarriage, Weight loss, Intrarenal abscess, Incr... ORPHA:1304
Caroli Disease
Polycystic kidney dysplasia, Weight loss ORPHA:53035
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Failure to thrive, Short stature, Rhizomelia, Stage 5 chronic kidney diseas... OMIM:266920
Porphyria Cutanea Tarda
Increased urinary porphobilinogen, Stage 5 chronic kidney disease, Porphyrinuria ORPHA:101330
Polymyositis
Weight loss, Abnormal renal tubule morphology ORPHA:732
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Failure to thrive,... OMIM:616580
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Huntington Disease-Like 1
Weight loss ORPHA:157941
Infection-Related Hemolytic Uremic Syndrome
Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output ORPHA:544482
Trisomy 18
Short stature, Cachexia, Abnormality of the upper urinary tract, Growth delay, Intrauterine growt... ORPHA:3380
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss ORPHA:100078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Miscarriage, Renal salt wasting, Long penis, Elevated urinary epinephrine level, W... ORPHA:90794
Leishmaniasis
Increased circulating antibody level, Weight loss ORPHA:507
Thyrotoxic Periodic Paralysis
Weight loss, Urinary retention, Obesity, Decreased urinary potassium ORPHA:79102
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis, Weight loss ORPHA:60025
Primary Sjögren Syndrome
Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Decreased circulating antibod... ORPHA:289390
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Intrauterine growth retardation, Increased circulating antibody level, Weight... OMIM:615846
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Weight loss ORPHA:391
Pfapa Syndrome
Weight loss ORPHA:42642
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Weight loss, Delayed puberty, Failure to thrive, Dec... OMIM:212750
Addison Disease
Decreased urinary potassium, Renal salt wasting, Weight loss, Delayed puberty, Failure to thrive ORPHA:85138
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia ORPHA:371364
Takayasu Arteritis
Weight loss ORPHA:3287
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in infancy, Short stat... OMIM:194050
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, Weight loss,... ORPHA:90362
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia OMIM:618186
Microsporidiosis
Cachexia, Urethritis, Weight loss, Abnormality of the urinary system physiology, Nephritis ORPHA:2552
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
Primary Sclerosing Cholangitis
Renal insufficiency, Polyclonal elevation of IgM, Weight loss ORPHA:171
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, Abnormality of the bladder, Increased circulating... ORPHA:228123
Perry Syndrome
Weight loss ORPHA:178509
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Behçet Disease
Glomerulopathy, Renal insufficiency, Weight loss ORPHA:117
Cranioectodermal Dysplasia 2
Rhizomelia, Renal insufficiency, Short stature, Renal cyst OMIM:613610
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Weight loss ORPHA:3226
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Cranioectodermal Dysplasia 1
Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubu... OMIM:218330
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short statur... ORPHA:199
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Schwartz-Jampel Syndrome
Death in infancy, Short stature, Cachexia, Abnormality of the ureter, Nephrolithiasis, Abnormalit... ORPHA:800
Focal Myositis
Weight loss ORPHA:48918
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Weight loss ORPHA:98850
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Gm1 Gangliosidosis
Failure to thrive, Short stature, Weight loss ORPHA:354
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss ORPHA:2902
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level, Hypercalciuria, Weight loss OMIM:181000
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Weight loss ORPHA:913
Kaposi Sarcoma
Weight loss ORPHA:33276
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Weight loss ORPHA:95427
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Tubulointerstitia... ORPHA:79078
Nijmegen Breakage Syndrome
Pollakisuria, Short stature, Abnormality of neuronal migration, Cachexia ORPHA:647
Digeorge Syndrome
Renal insufficiency, Short stature, Impaired T cell function, Unilateral renal agenesis, Obesity,... OMIM:188400
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Familial Mediterranean Fever
Nephrotic syndrome, Renal amyloidosis, Stage 5 chronic kidney disease OMIM:249100
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Yellow Fever
Increased circulating IgM level, Renal insufficiency, Anuria, Acute kidney injury ORPHA:99829
Thymic Carcinoma
Weight loss ORPHA:99868
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati... OMIM:107480
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Chronic Beryllium Disease
Weight loss ORPHA:133
Sarcoidosis
Renal insufficiency, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Tubulointers... ORPHA:797
Crimean-Congo Hemorrhagic Fever
Hematuria, Increased circulating IgG level, Proteinuria, Increased circulating IgM level ORPHA:99827
Osteosarcoma
Weight loss ORPHA:668
Degcags Syndrome
Recurrent urinary tract infections, Hypospadias, Small for gestational age, Bilateral renal dyspl... OMIM:619488
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Weight loss ORPHA:90003
Familial Colorectal Cancer Type X
Renal neoplasm, Weight loss ORPHA:440437
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Malignant Atrophic Papulosis
Abnormality of the lower urinary tract, Weight loss ORPHA:679
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Costello Syndrome
Renal insufficiency, Failure to thrive, Short stature OMIM:218040
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Small for gestational age, Short stature, Dilatation of the renal pe... ORPHA:2044
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Pneumocystosis
Increased circulating antibody level, Weight loss ORPHA:723
Listeriosis
Acute kidney injury, Miscarriage, Pyelonephritis ORPHA:533
Cap Polyposis
Weight loss ORPHA:160148
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Bullous Pemphigoid
Weight loss ORPHA:703
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Short stature, Dilatation of the renal pelvis... OMIM:619534
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Zygomycosis
Renal insufficiency, Nephritis ORPHA:73263
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Scorpion Envenomation
Ketonuria, Acute kidney injury, Glycosuria ORPHA:466677
Loeffler Endocarditis
Weight loss ORPHA:75566
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Perry Syndrome
Weight loss OMIM:168605
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Nephrolithiasis, Weight loss ORPHA:652
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Camurati-Engelmann Disease
Slender build, Urinary retention, Cachexia, Delayed puberty ORPHA:1328
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
African Trypanosomiasis
Renal insufficiency, Miscarriage, Urinary incontinence, Weight loss ORPHA:3385
Marburg Hemorrhagic Fever
Renal insufficiency, Increased circulating antibody level ORPHA:99826
Chronic Graft Versus Host Disease
Hematuria, Urinary bladder inflammation, Weight loss, Phimosis ORPHA:99921
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Weight loss ORPHA:37
Oromandibular Dystonia
Weight loss ORPHA:93958
Lynch Syndrome
Death in infancy, Death in early adulthood, Weight loss ORPHA:144
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Ménétrier Disease
Weight loss ORPHA:2494
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Rett Syndrome
Short stature, Cachexia OMIM:312750
Refractory Celiac Disease
Weight loss ORPHA:398063
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Slender build, Cachexia, Weight loss OMIM:603041
Poems Syndrome
Increased circulating antibody level, Weight loss ORPHA:2905
Rheumatoid Arthritis
Weight loss OMIM:180300
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Pemphigus Vulgaris
Weight loss ORPHA:704
Primary Myelofibrosis
Cachexia ORPHA:824
Reactive Arthritis
Recurrent urinary tract infections, Weight loss ORPHA:29207
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Weight loss ORPHA:98849
Pmm2-Cdg
Proteinuria, Nephrotic syndrome, Multiple renal cysts, Impaired neutrophil chemotaxis, Failure to... ORPHA:79318
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Leptospirosis
Cellular urinary casts, Acute kidney injury ORPHA:509
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Mucolipidosis Type Ii
Postnatal growth retardation, Short stature, Weight loss ORPHA:576
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Budd-Chiari Syndrome
Weight loss ORPHA:131
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Familial Thrombocytosis
Miscarriage, Weight loss ORPHA:71493
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Whipple Disease
Cachexia ORPHA:3452
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Immunodeficiency 31C
Growth delay, Short stature, Delayed puberty, Weight loss OMIM:614162
Eisenmenger Syndrome
Renal insufficiency ORPHA:97214
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Increased body weight, Weight loss, Truncal obesity, Abdominal ... ORPHA:99889
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Acute Liver Failure
Acute kidney injury ORPHA:90062
Blau Syndrome
Nephropathy, Clear cell renal cell carcinoma, Stage 5 chronic kidney disease ORPHA:90340
Hereditary Sensory And Autonomic Neuropathy Type 4
Growth delay, Chronic kidney disease ORPHA:642
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia ORPHA:109
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Polycythemia Vera
Weight loss ORPHA:729
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Weight loss ORPHA:85408
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Proteus Syndrome
Gray matter heterotopia, Cachexia, Long penis, Renal cyst ORPHA:744
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Klatskin Tumor
Weight loss ORPHA:99978
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss ORPHA:309031
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Weight loss ORPHA:91347
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Alström Syndrome
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... ORPHA:64
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Rat-Bite Fever
Weight loss ORPHA:31205
Juvenile Polyposis Of Infancy
Short stature, Cachexia ORPHA:79076
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:619381
Ppoma
Weight loss ORPHA:97278
Somatostatinoma
Weight loss ORPHA:97283
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Glucagonoma
Weight loss ORPHA:97280
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Delayed menarche, Weight loss ORPHA:740
Tropical Pancreatitis
Weight loss ORPHA:103918
Pancreatoblastoma
Weight loss ORPHA:677
Dermatomyositis
Weight loss ORPHA:221
Malt Lymphoma
Weight loss ORPHA:52417
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Growth delay, Cachexia, Delayed puberty ORPHA:2072
Nocardiosis
Weight loss ORPHA:31204
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Stickler Syndrome
Short stature, Slender build, Cachexia ORPHA:828
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Choreoacanthocytosis
Weight loss ORPHA:2388
Norrie Disease
Failure to thrive, Cachexia, Delayed puberty ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Heart - MPATH diagnostic term hypertrophic tissue Actn4tm1a(EUCOMM)Wtsi HET Early adult
Heart - hyperplasia Actn4tm1a(EUCOMM)Wtsi HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Actn4.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Stiffening of Circumferential F-Actin Bands Correlates With Regenerative Failure and May Act as a Biomechanical Brake in the Mammalian Inner Ear. Frontiers in cellular neuroscience (May 2022) Actn4tm1a(EUCOMM)Wtsi PMC9114303
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Actn4tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Actn4tm1a(EUCOMM)Wtsi Actn4tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Actn4tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Actn4tm1a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Actn4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Actn4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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