Gene Summary

Name:
CD2-associated protein
Synonyms:
METS-1,  Mets1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Cd2apem1(IMPC)Bay HOM   Early adult 1.17×10-05
preweaning lethality, incomplete penetrance Cd2apem1(IMPC)Bay HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left eye

36 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

Eye Morphology

VIP of right eye

36 Images

Eye Morphology

VIP of left fundus

35 Images

Eye Morphology

VIP of left fundus

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

Eye Morphology

VIP of left eye

20 Images

X-ray

XRay Images Forepaw

21 Images

Eye Morphology

VIP of right eye

20 Images

Eye Morphology

VIP of right fundus

37 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

Eye Morphology

VIP of right fundus

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Cd2ap 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 Cd2ap by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Hypoalbuminemia, F... ORPHA:656

The table below shows human diseases predicted to be associated to Cd2ap by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... OMIM:615573
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Nephrotic Syndrome, Type 17
Proteinuria, Short stature, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 ... OMIM:618176
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental glo... OMIM:603278
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Hypoalbuminemia, Focal segment... OMIM:618349
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... OMIM:619155
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Hypercholesterolemia, Abnormal glo... ORPHA:567548
Nail-Patella-Like Renal Disease
Proteinuria, Short stature, Glomerulopathy, Microscopic hematuria, Renal insufficiency ORPHA:2613
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Hypoalbuminemia, F... ORPHA:656
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Glomerular sclerosis, Hyperlipidemia, Congenital ne... OMIM:256300
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Intrauterine growth retardation, Chronic kidney disease, Hyperuricemia, Short stature... OMIM:617056
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:616730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Hyperuricemia, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Decreased glomerular filtration rate, Elevated circulating creatinine conce... OMIM:242530
Hyperuricemic Nephropathy, Familial Juvenile, 3
Nephropathy, Renal insufficiency OMIM:614227
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612926
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Bronchiectasis,... OMIM:619468
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Intrauterine growth retardation, Proteinuria, Growth delay, Short stature, Hy... OMIM:618347
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Intrauterine growth retardation, Proteinuria, Short sta... OMIM:301006
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... OMIM:614723
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Abnormal circulating lipid concentration, Membranopro... OMIM:608709
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in plasma, Increased level of gal... OMIM:230400
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, ... ORPHA:839
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury OMIM:160010
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hypocalcemia, Splenomegaly, Growth delay, Hepatomegaly, Anemia, Lymphadenop... ORPHA:100025
Nephrosialidosis
Nephrotic syndrome, Bone-marrow foam cells, Nephropathy, Ascites, Renal insufficiency, Pericardia... OMIM:256150
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pr... OMIM:619609
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Colitis, Minimal change glomer... OMIM:617006
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Hypertriglyceridemia, H... OMIM:617575
Preeclampsia
Elevated circulating creatinine concentration, Intrauterine growth retardation, Acute kidney inju... ORPHA:275555
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:618348
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Glomerular subendothelial electro... OMIM:609814
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Increased total bilirubin, Ascites OMIM:174050
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Micropenis, Hemolytic anemia, Ascites, Hypospadias OMIM:600461
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased total bilirubin, Ascites, Renal insufficiency ORPHA:890
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis, Hyperam... OMIM:271500
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Ascites, Hydrops fetalis, Hepatomegaly, Anemia, Polyhydramnios, Renal hypoplasia/a... ORPHA:2123
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Acute kidney injury, Protein... ORPHA:93126
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Hydrops fe... OMIM:256550
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria... ORPHA:567546
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Ascites, Splenomegaly, Hypoplasia of penis, Anemia, Polyhydramnios, Re... ORPHA:1046
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Intrauterine growth retardation, Tubuloin... ORPHA:255249
Lesch-Nyhan Syndrome
Gout, Hyperuricemia, Hematuria, Renal insufficiency ORPHA:510
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Vacuolated lymphocytes, Hydrops fetalis, Splenomegaly, Hepatomegaly, Conjugat... OMIM:269920
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hypercalcemia, Proteinuria ORPHA:2668
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Intrauterine growth retardation, Cholestasis, Jaundice, Hypoalb... OMIM:617156
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis OMIM:278300
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Intrauterine growth retardation, Elevated circulating creatinine co... OMIM:616733
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Proteinuria, Acute kidney injury, Decrease... ORPHA:650
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... ORPHA:2364
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Retinitis Pigmentosa 59
Micropenis, Intrauterine growth retardation, Renal insufficiency OMIM:613861
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, S... OMIM:134600
Immunodeficiency, Common Variable, 6
Enlarged kidney, Chronic decreased circulating total IgG, Complete or near-complete absence of sp... OMIM:613496
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Nephropathy, Stage 5 chronic kid... OMIM:194080
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hydrops fetalis, Hypertrophic cardiomyopathy, Anemia, Increased ... ORPHA:295
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Acute kidney injury, Hematuria, Proteinuria, Renal insufficiency ORPHA:54057
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, Red-brown urine, ... ORPHA:228302
Immunodeficiency 27A
Increased circulating IgG level, Hepatosplenomegaly, Histiocytosis, Increased circulating IgM lev... OMIM:209950
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Decreased circulating antibody level, Hepatomegaly, Jaundice, Decreas... OMIM:301045
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Short stature, Renal... OMIM:613388
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Rhizomelia, Renal hypoplasia, Glomeru... OMIM:614376
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Intestinal lymphangiectasia, Decreased proportion of CD3-positiv... ORPHA:90362
Aicardi-Goutieres Syndrome 9
Proteinuria, Anemia, Recurrent urinary tract infections, Hyperechogenic kidneys, Ascites, Stage 5... OMIM:619487
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Podagra, Hyperuricemia, Renal insufficiency OMIM:300323
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Proteinuria, Hydronephrosis, Prostatitis, Arteriti... ORPHA:449395
Hypervitaminosis A, Susceptibility To
Ascites, Abnormality of the liver, Hypercalcemia, Renal insufficiency OMIM:240150
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Reduced natural killer cell activity,... OMIM:616050
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobinuria, Acute kidney injury OMIM:268200
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation, Cholestasis, Cryptorchidism, Hepatomegaly, Anemia, Abnormal hear... OMIM:608104
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Renal dysplasia, R... OMIM:615993
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine OMIM:232600
Sialidosis Type 2
Hydrops fetalis, Splenomegaly, Hepatomegaly, Short stature, Pedal edema, Nephropathy, Ascites ORPHA:87876
Alg1-Cdg
Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Renal insufficiency ORPHA:79327
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomeg... OMIM:251880
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... ORPHA:231111
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Recurrent urinary tra... OMIM:613095
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insufficiency, Focal segme... ORPHA:347
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Xanthinuria, Type Ii
Hypouricemia, Nephrolithiasis, Renal insufficiency OMIM:603592
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Hyponatremia, Ascites, Atrial septal... ORPHA:1667
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fancon... OMIM:276700
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Increased ... OMIM:274150
Nephronophthisis
Renal insufficiency ORPHA:655
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria... ORPHA:251004
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Recurrent myoglobinuria, Glomerular sclerosis... OMIM:607426
Aapoaiv Amyloidosis
Glomerular sclerosis, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuria,... ORPHA:439232
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Cholestasis, Splenomegaly, Hepatomegaly, Nephropathy,... OMIM:105200
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:619603
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Hypoalbuminemia OMIM:227090
Uremic Pruritus
Hypermagnesemia, Recurrent skin infections, Hypercalcemia, Increased blood urea nitrogen, Chronic... ORPHA:94059
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... ORPHA:3467
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Hyperuricemia... OMIM:603860
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration,... ORPHA:247598
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Hydrops fetalis, Tubulointerstitial fibrosis, Polyhydram... OMIM:232500
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Hyperuricemia, Crystalluria, Renal insufficiency, Gout, Uri... ORPHA:411543
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Bone marrow hypocellularity, Leukopenia, Proteinuria, Increa... OMIM:617303
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardio... ORPHA:858
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Short stature, Hypoalb... OMIM:619013
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Oligohydramnios, Hypoalbumi... OMIM:616000
Fanconi Renotubular Syndrome 3
Glycosuria, Proteinuria, Growth delay, Hyperphosphaturia, Aminoaciduria, Short stature OMIM:615605
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Thrombocytosis, Growth delay, Decreased circulating antibody level, Hepatomegaly... OMIM:226300
Lessel-Kubisch Syndrome
Renal hypoplasia, Short stature, Renal insufficiency OMIM:618681
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... ORPHA:49041
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Hypersplenism, Leukopenia, Hematuria, Proteinuria, ... ORPHA:77259
Cystinuria
Hyperuricemia, Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Neutropenia, Hypoalbuminemia, Edema OMIM:600351
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Hyponatremia, Cryptorchidism, Ascites, Hypocalcemia, Polyuria, Decreased circulating an... OMIM:618183
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Proteinuria, Renal interstitial amyloid deposits, Ane... ORPHA:85443
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Hyperuricemia, Ve... ORPHA:261222
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperamylasemia, Pancreatitis, Elevated circulating creatine kinase concentration... OMIM:619386
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Growth delay, Hypospadias OMIM:619428
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hematuria, Proteinuria, Elevated circulating C-reac... OMIM:614034
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cardiomegaly, Splenomegaly, Hepatomegaly, Pleural e... OMIM:235200
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Senior-Boichis Syndrome
Cholestasis, Reduced number of intrahepatic bile ducts, Anemia, Hyperechogenic kidneys, Ascites, ... ORPHA:84081
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Intrauterine growth retard... OMIM:617729
Combined Oxidative Phosphorylation Deficiency 5
Abnormal renal tubule morphology, Hypertrophic cardiomyopathy, Growth delay, Ascites, Edema OMIM:611719
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Abnormality of the kidney, Increased hepatic glycogen content, Growt... ORPHA:369
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Acute kidney injury ORPHA:673
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirrhosis, Ascites, Glo... ORPHA:2137
Glycogen Storage Disease Ic
Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hyperuricemia, Chro... OMIM:232240
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia, Renal insufficiency, Gout, Uric acid nephrolithiasis OMIM:300661
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Familial Renal Glucosuria
Glycosuria, Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary t... ORPHA:69076
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Elevated circulating creatinine concentration, H... ORPHA:411634
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Cholestasis, Hydrops fetalis, Myocardit... ORPHA:292
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Reduced natural killer cell activity, Hemophagocyto... ORPHA:540
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Renal insufficiency ORPHA:28
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Chylomicron Retention Disease
Hypotriglyceridemia, Growth delay, Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholestero... OMIM:246700
Mulibrey Nanism
Pericardial constriction, Intrauterine growth retardation, Hydrops fetalis, Hepatomegaly, Growth ... OMIM:253250
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody ... OMIM:615122
Schimke Immuno-Osseous Dysplasia
Proteinuria, Disproportionate short-trunk short stature, Anemia, Microscopic hematuria, Pancreati... ORPHA:1830
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoaciduria, Short ... OMIM:616026
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Elevated circulating creatinine concentration, Pn... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Edema, Pericardial effusi... OMIM:608776
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Hematuria, Proteinuria, Ascites, Splenomegaly, Hepat... ORPHA:36412
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Renal cyst, Hepatic steatosis, Nephrotic syndrome, Proteinuria, ... OMIM:212065
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Reduce... OMIM:603553
Muckle-Wells Syndrome
Maculopapular exanthema, Renal amyloidosis, Elevated circulating C-reactive protein concentration... OMIM:191900
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Growth delay, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Panc... OMIM:618805
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Splenomegaly, Hepatomegaly, Growth delay, Pleural effusion, Pulmonic stenosis, A... ORPHA:2414
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Increased blood urea nitroge... OMIM:223900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Hydrops fetalis, Splenomegaly, Hepatomegaly, Ascites ORPHA:834
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Citrullinemia Type Ii
Cerebral edema, Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Enuresi... ORPHA:247585
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, H... OMIM:613845
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Elevated circulating creatinine concentration, Decreased circulating apolipop... ORPHA:85450
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Intrauterine growth retardation, Proteinuria, Abnormal T cell morphology, Abn... OMIM:242900
Galactosemia
Hypergalactosemia, Cryptorchidism, Ascites, Hepatomegaly, Jaundice, Increased level of galactitol... ORPHA:352
Cednik Syndrome
Short stature, Nephrotic syndrome, Proteinuria ORPHA:66631
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Normocytic anemia, Elevated circulating creatinine concentration, Proteinur... ORPHA:247691
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Micropenis, Hydronephrosis, Hypocalcemia, Cryptorchidism, Sp... ORPHA:1655
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Nonimmune hydrops fetalis, Hepat... ORPHA:367
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Systemic Sclerosis
Recurrent skin infections, Acute kidney injury, Proteinuria, Arthritis, Glomerulonephritis, Chron... ORPHA:90291
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Hypoalbuminemia ORPHA:1954
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalcemia, Elevated ... ORPHA:276621
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Micropenis, Hydronephrosis, Hypocalcemia, Cryptorchidism, Splenomegaly, Pancreat... OMIM:235255
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Hydrops Fetalis
Nonimmune hydrops fetalis, Abnormality of the kidney, Pleural effusion, Abnormal heart morphology... ORPHA:1041
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Growth delay, Myoglob... ORPHA:57
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Hypoargininemia, Episodic ammonia intoxication ORPHA:147
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Anemia, Increased circulating antibody level... ORPHA:100024
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Renal insufficiency ORPHA:3222
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Growth delay, Pancreatitis, Renal insufficiency, Hyperammonemia ORPHA:289916
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Hypocalcemia, Short stature, Asplenia, Ascites OMIM:602361
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Nephritis OMIM:609057
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Decreased circulating IgA level, Short s... OMIM:215250
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Cholestasis, Bacterial endocarditis, Jaundice, Pedal edema, Ascites... ORPHA:615
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia, Bronchiectasis OMIM:241600
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Leukopenia, Hematuria, Proteinuria, Ascites, Pleural effusion, Nephritis, Abn... ORPHA:93552
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatomegaly, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis OMIM:602579
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Highly elevated creatine kinase, Chronic kidney disease, Elevated circulatin... ORPHA:368
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Hematuria, Atrial septal defect, Hydrops ... ORPHA:90308
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Hypercholesterolemia, Elevated circulating creatine kinase concentrat... ORPHA:64753
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... OMIM:300554
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Superficial dermal perivascular inflammatory infiltrate, Hypercalcemia, Acute kidney injury, Elev... ORPHA:284426
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Ectopic kidney, Horseshoe kidney, Cryptorchidism, Hydronephrosis, At... OMIM:235510
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Multiple glomerular cysts, Decreased numbers o... OMIM:137920
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Hypercalciuria, Bicarbonatur... ORPHA:3337
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Genetic Recurrent Myoglobinuria
Oliguria, Myositis, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Hig... ORPHA:99845
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... ORPHA:99879
Cystinosis
Hypokalemia, Renal tubular dysfunction, Delayed puberty, Proteinuria, Aminoaciduria, Short statur... ORPHA:213
Azotemia, Familial
Azotemia OMIM:109160
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kin... OMIM:617713
Senior-Loken Syndrome
Short stature, Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease ORPHA:3156
Cirrhotic Cardiomyopathy
Right atrial enlargement, Cardiomegaly, Peripheral edema, Abnormal B-type natriuretic peptide lev... ORPHA:57777
Trichohepatoenteric Syndrome 1
Cholestasis, Abnormality of iron homeostasis, Galactosuria, Ventricular septal defect, Intrauteri... OMIM:222470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Enlarged kidney, Nephrotic syndrome, Bone marrow hypocellularity... ORPHA:505248
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites OMIM:619433
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Right atrial... OMIM:619313
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgG level, Elevated circulating creatinine concentratio... ORPHA:29073
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Micropenis, Hydronephrosis, Hydrops fetalis, Hypertrophic cardio... OMIM:616897
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Increased blood urea nitro... OMIM:154230
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Increased circulating antibody level, Peda... ORPHA:86816
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Dyschondrosteosis-Nephritis Syndrome
Intrauterine growth retardation, Hematuria, Proteinuria, Mesomelic short stature, Short stature, ... ORPHA:1765
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Leukocytosis, Portal hypertension, Cholestasis, Cholangitis, C... ORPHA:53035
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Nephrotic syndrome, Intrauterine growth retardation, Proteinuria, Sh... OMIM:251300
Xfe Progeroid Syndrome
Severe short stature, Renal insufficiency, Hypoalbuminemia, Proteinuria OMIM:610965
Chylous Ascites
Ascites, Lymphedema, Pancreatitis ORPHA:1160
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria OMIM:166300
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Growth delay, Hepatomegaly, Anemia, Short... OMIM:259720
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Ethanolaminosis
Cardiomegaly OMIM:227150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Renal hypoplasia, Short stature, Chronic kidney disease OMIM:617661
Mpi-Cdg
Portal hypertension, Hepatomegaly, Edema, Hypoalbuminemia, Hepatic fibrosis ORPHA:79319
Secondary Intestinal Lymphangiectasia
Anasarca, Decreased circulating total IgM, Constrictive pericarditis, Decreased circulating IgG1 ... ORPHA:90363
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal urinary color, Myoglobinuria ORPHA:98895
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Thickened glomerular basement membrane, Abnormal renal physiology, Nephro... OMIM:308940
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Growth delay, Tubulointerstitial fibrosis, Tubular bas... OMIM:256100
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Nonimmune hydrops fetalis, Conjugated hyperbilirubinemia, Jaundice, P... OMIM:617049
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Hypertrig... OMIM:232700
Relapsing Fever
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Elevated circulati... ORPHA:91547
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Hypercalcemia, Elevated ... ORPHA:29072
Wolman Disease
Splenomegaly, Hepatomegaly, Growth delay, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kidney injury, P... OMIM:618886
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Abnormality of the liver, Hydrops fetalis, Hypermethioninemia, Growth delay,... ORPHA:88618
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Renal tubular atrophy, Hyp... OMIM:614748
Alg6-Cdg
Jaundice, Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Apparent Mineralocorticoid Excess
Hypokalemia, Nephrocalcinosis, Intrauterine growth retardation, Abnormal urine sodium concentrati... ORPHA:320
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys, Multiple glomerular cysts OMIM:618719
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Acute kidney injury, Proteinuria, Decreased serum iron, Incre... ORPHA:447
Glycogen Storage Disease Vii
Increased total bilirubin, Gout, Exercise-induced myoglobinuria, Hyperuricemia OMIM:232800
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis OMIM:616239
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine, Increased blood urea ni... ORPHA:230
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Anemia, Membranous nephropathy, Pancreatitis, Dec... ORPHA:470
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Cardiomyopathy, Familial Hypertrophic, 4
Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal h... OMIM:115197
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Mild postnatal growth retardation, Pleural effusion, Pulm... OMIM:265300
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Proteinuria, Increased inflammatory response, Acne, Pustule, Arthritis ORPHA:69126
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency OMIM:618061
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatinine concentration, Hydronephrosis, Polycystic kidney dysplasia, Long-... OMIM:608836
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Myoglobinuria, Renal insufficiency ORPHA:713
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Growth dela... ORPHA:223
Avian Influenza
Pneumonia, Acute kidney injury, Infectious encephalitis, Elevated circulating C-reactive protein ... ORPHA:454836
Lymphatic Malformation 6
Intestinal lymphangiectasia, Chylothorax, Atrial septal defect, Nonimmune hydrops fetalis, Spleno... OMIM:616843
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circu... OMIM:255120
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Urinary retention, Hepat... ORPHA:79124
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Elevated circulating creati... ORPHA:158684
Tempi Syndrome
Transudative pleural effusion, Increased circulating IgG level, Increased hematocrit, Ascites, Ab... ORPHA:284227
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency ORPHA:454
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Lymphadenopathy, Ascites ORPHA:26790
Primary Biliary Cholangitis
Biliary cirrhosis, Portal hypertension, Increased circulating IgM level, Ascites, Increased circu... ORPHA:186
Alg12-Cdg
Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:119
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Hennekam Syndrome
Chylothorax, Ectopic kidney, Horseshoe kidney, Lymphangioma, Hydrops fetalis, Hypocalcemia, Mild ... ORPHA:2136
Jeune Syndrome
Short stature, Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Nephronophthisis 4
Nephronophthisis, Polyuria, Growth delay, Tubulointerstitial fibrosis, Renal tubular atrophy, Ren... OMIM:606966
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Hydrops fetalis, Splenomegaly, Lymphedema, Hepatitis, Ascites ORPHA:584
Dyschondrosteosis And Nephritis
Mesomelic short stature, Nephritis OMIM:127350
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Decreased plasma carnitine, Hypertrophic cardiomyopathy, ... OMIM:201475
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Aminoaciduria, Albuminuria, Hypospadias, Elevated circ... OMIM:214100
Cockayne Syndrome Type 1
Uveitis, Proteinuria, Increased blood urea nitrogen, Renal insufficiency, Postnatal growth retard... ORPHA:90321
Dengue Fever
Hypoproteinemia, Leukopenia, Hepatomegaly, Ascites, Thrombocytopenia ORPHA:99828
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Hypercalcemia, Micropenis, Hypercalciuria, Postnatal growth reta... OMIM:614732
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Decreased urine output, Acute kidney injury, Incre... ORPHA:542323
Alg8-Cdg
Hyponatremia, Intrauterine growth retardation, Hydrops fetalis, Anemia, Edema, Ascites, Oligohydr... ORPHA:79325
Primary Sclerosing Cholangitis
Cholelithiasis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Cholangiocarcinoma, Abnorma... ORPHA:171
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Lymphadenopathy, Abnormality of the ... ORPHA:83469
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Short stature, Bone-marrow foam cells, Prolonged n... OMIM:257200
Insulin-Resistance Syndrome Type B
Glycosuria, Abnormal salivary gland morphology, Biliary cirrhosis, Increased circulating IgG leve... ORPHA:2298
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatic steatosis, Cystic renal dysplasia, Hyperlipidemia, Decrea... ORPHA:228308
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Osteoarthrit... OMIM:277900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Chro... OMIM:146255
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Bone marrow hypocellularity, Acute myel... ORPHA:86839
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Splenom... OMIM:194380
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Tubulointerstitial nephritis, Methylmalonic acidemia, Pancreatitis, Hyper... OMIM:251000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Aminoaciduria, Intrauterine growth retardatio... OMIM:619055
Alstrom Syndrome
Recurrent pneumonia, Tubulointerstitial nephritis, Hyperuricemia, Short stature, Nephritis, Otiti... OMIM:203800
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Nephrotic syndrome, Hemolytic-uremic syndrome, Maculopapular exanthema, Elev... OMIM:619644
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Abnormality of circulating enzyme level, Dysuria, D... ORPHA:93598
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:157
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level, Renal insufficiency OMIM:177200
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Abn... ORPHA:99885
Laurence-Moon Syndrome
Displacement of the urethral meatus, Short stature, Hypoplasia of penis, Renal insufficiency ORPHA:2377
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne, Hypoalbuminemia OMIM:614441
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Ur... ORPHA:2704
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Abnormal pericardium morphology, Pleural effusion, Anemi... ORPHA:67
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
Ménétrier Disease
Hypoproteinemia, Peripheral edema, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Cryoglobulinemic Vasculitis
Viral hepatitis, Hematuria, Proteinuria, Keratoconjunctivitis sicca, Glomerulopathy, Renal insuff... ORPHA:91138
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Glucose-Galactose Malabsorption
Nephrolithiasis, Hypercalcemia, Hematuria, Renal insufficiency, Hypernatremia ORPHA:35710
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Hyperprolinemia, Prolinuria, Hydroxyprolinuria... ORPHA:79101
Classic Galactosemia
Cryptorchidism, Hepatomegaly, Jaundice, Ascites, Premature ovarian insufficiency, Abnormal erythr... ORPHA:79239
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hyperammonemia, Renal insufficiency ORPHA:79312
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Hydrops fetalis, Polycystic kidney dysplasia, Short stature, Ascite... OMIM:614091
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cholestasis, Portal fibrosis, Renal tubular acidosis, Myoglobinuria, Hepatocellular carcinoma, He... ORPHA:370
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Vitamin B12-Unresponsive Methylmalonic Acidemia