Gene: Cd2ap MGI:1330281

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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
preweaning lethality, incomplete penetrance Cd2apem1(IMPC)Bay HOM   Early adult 0.00
decreased grip strength Cd2apem1(IMPC)Bay HOM   Early adult 6.77×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Eye Morphology

VIP of left fundus

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

Eye Morphology

VIP of right eye

20 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

Eye Morphology

VIP of right fundus

20 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

X-ray

XRay Images Forepaw

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

VIP of left eye

20 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, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832

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
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Abnorma... ORPHA:567544
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy, Hyperprolinemia ORPHA:419
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Growt... ORPHA:567548
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Nephrotic Syndrome, Type 1
Hypoproteinemia, Growth delay, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Rena... OMIM:256300
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Short stature, Renal insufficiency, Proteinuria ORPHA:2613
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:616730
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Gout, Chronic kidney disease, Ren... OMIM:617056
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Severe short stature, Elevated circulating creatinine conce... OMIM:242530
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Glo... OMIM:607665
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Increas... ORPHA:94088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Glomerulonephritis, ... OMIM:614376
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Intrauterine growth ret... OMIM:301006
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne... OMIM:608709
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Short stature, Proteinuria OMIM:618347
Galactosemia I
Increased level of galactitol in red blood cells, Albuminuria, Increased level of galactitol in p... OMIM:230400
Alpha-Heavy Chain Disease
Hypocalcemia, Growth delay, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Pr... ORPHA:100025
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney... OMIM:617575
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Chronic kidney disease, Intra... ORPHA:275555
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Nephropathy, Ascites, Nephrotic syndrome, Renal ins... OMIM:256150
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Colitis, Nephrotic syndrome, Minimal change glomerulonephritis,... OMIM:617006
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Glomerulonephritis, Glomerular baseme... OMIM:104200
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Renal insufficiency... OMIM:612933
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Renal insufficiency, Myoglobinuria OMIM:261670
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Heme Oxygenase 1 Deficiency
Growth delay, Hematuria, Proteinuria OMIM:614034
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:618348
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hemolytic anemia, Ascites, Hypospadias, Hepatosplenomegaly, Micropenis OMIM:600461
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Neuraminidase Deficiency
Bone-marrow foam cells, Hydrops fetalis, Vacuolated lymphocytes, Facial edema, Hepatomegaly, Urin... OMIM:256550
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly, Jaundice, Ascites, Renal insufficiency ORPHA:890
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Renal insufficiency, Proteinuria, Decreased HDL cholesterol concentration OMIM:245900
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Elevated circulating crea... ORPHA:93126
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Renal insufficiency, Hydrops fetalis, Thrombocytopenia, Hepatomegaly, Hypercalcem... ORPHA:2123
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hyposp... ORPHA:1046
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy ORPHA:2668
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria, Hyperuricemia ORPHA:510
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegal... OMIM:269920
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbuminemia, Nephrotic synd... ORPHA:255249
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Elevated circulating creatinine concentration, Postnatal growth retardation, Abn... OMIM:616733
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Cholestasis, Jaundice, Ascites, Hypoalbuminemia, Int... OMIM:617156
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Nephroblastoma, Stage 5 chronic kidney disease, ... OMIM:194080
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia, Intrauterine g... ORPHA:295
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Renal insufficiency... ORPHA:2364
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Anasarca, Albuminuria, Focal segmental glomerulosclerosis, Palpebral edema, Ple... ORPHA:567546
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease, Renal cyst, Ascites OMIM:174050
Dent Disease
Renal insufficiency, Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperp... ORPHA:1652
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Short stature, Renal in... OMIM:134600
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Proteinuria ORPHA:54057
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Ja... OMIM:301045
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Retinitis Pigmentosa 59
Intrauterine growth retardation, Renal insufficiency, Micropenis OMIM:613861
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Renal insufficiency, Hypercalcemia, Ascites OMIM:240150
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Hyperuricemia, Hprt-Related
Renal insufficiency, Hyperuricemia, Podagra, Hyperuricosuria, Nephrolithiasis OMIM:300323
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Sh... OMIM:613388
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Oligohydramnios, Abnormal heart morphology, Cholestasis, Thrombocytopenia, Hepato... OMIM:608104
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Bardet-Biedl Syndrome 16
Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal agenesis, Abnorma... OMIM:615993
Sialidosis Type 2
Hydrops fetalis, Pedal edema, Nephropathy, Hepatomegaly, Ascites, Short stature, Splenomegaly ORPHA:87876
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Dark urine, Myoglobinuria OMIM:232600
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, General... OMIM:251880
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Tyrosinemia, Type I
Cirrhosis, Hypertyrosinemia, Enlarged kidney, Renal Fanconi syndrome, Hypophosphatemic rickets, G... OMIM:276700
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, G... ORPHA:1667
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy ORPHA:225
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Pericarditis, Malar rash, Elevated circulating C-reacti... ORPHA:231111
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Splenomegaly, Edema, Nephrotic syndrome, Prote... OMIM:105200
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Nephronophthisis
Renal insufficiency ORPHA:655
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Glomerular sclerosis, Recurrent myoglobinuria... OMIM:607426
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Short stature, Nephrocalcinosis, Prot... OMIM:616026
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Hypoalbuminemia OMIM:227090
Medullary cystic kidney disease 2
Multiple renal cysts, Hyperuricemia, Enuresis, Renal tubular atrophy, Gout, Renal corticomedullar... OMIM:603860
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic k... ORPHA:439232
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed... ORPHA:251004
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, H... ORPHA:3467
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Chronic ki... ORPHA:94059
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Gout, Increas... ORPHA:411543
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Atrial septal defect, Enlarged kidney, Focal segmental glomerulo... OMIM:617303
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Analbuminemia
Hypercholesterolemia, Oligohydramnios, Elevated circulating transferrin concentration, Edema, Hyp... OMIM:616000
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232200
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Edema, Hypoalbuminemia, Decreased circulating IgG level OMIM:600351
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Pedal edema, Abnormal circulati... ORPHA:381
Congenital Toxoplasmosis
Thrombocytopenia, Hepatomegaly, Jaundice, Ascites, Anemia, Cardiomegaly, Intrauterine growth reta... ORPHA:858
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Tubulointerstitial fibrosis, Edema, Ascites, Portal h... OMIM:232500
Rajab Interstitial Lung Disease With Brain Calcifications 2
Oligohydramnios, Microcytic anemia, Hepatic steatosis, Hypopituitarism, Hypertriglyceridemia, Hyp... OMIM:619013
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium,... OMIM:602522
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Aminoaciduria, Glycosuria, Short stature, Proteinuria OMIM:615605
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Cystinuria
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia ORPHA:214
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Gaucher Disease Type 1
Cirrhosis, Hematuria, Increased circulating antibody level, Growth delay, Pericardial effusion, P... ORPHA:77259
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Xerostomia, Increased circulating NT-proBNP concentra... ORPHA:85443
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... ORPHA:49041
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232220
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Growth delay, Pancytopenia, Throm... OMIM:259720
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Decreased circulating antibody level, Gr... OMIM:226300
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Pleural effusion, Hepatocellular carcino... OMIM:235200
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Leukocytosis, Abnormal macrophage morphology, Pericardial effusi... ORPHA:292
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Hyperalaninemia, Pancreatitis, E... OMIM:619386
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Cryptorchidism, Hypocalcemia, Anasarca, Pleural effusion, Pericardial effusion, D... OMIM:618183
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the ... ORPHA:261222
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Intrau... OMIM:617729
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria OMIM:134610
Autoimmune Hepatitis
Increased total bilirubin, Acute hepatitis, Cirrhosis, Viral hepatitis, Increased circulating ant... ORPHA:2137
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Uric acid nephrolithiasis, Hyperuricemia, Gout, Hyperuricosuria OMIM:300661
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatitis, Hyperuricemia, Decreased glo... OMIM:232240
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Postnatal growth ... ORPHA:93110
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym... OMIM:615122
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal renal physiology, Decrea... ORPHA:540
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hepatomegaly, Edema, Ascites, Polycystic kidney dysplasia, Abnormal cardiac... OMIM:608776
Chylomicron Retention Disease
Hypotriglyceridemia, Growth delay, Hypocholesterolemia, Decreased LDL cholesterol concentration, ... OMIM:246700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Growth delay, Hepatocellular carcinoma, Hypertroph... ORPHA:369
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Combined Oxidative Phosphorylation Deficiency 5
Abnormal renal tubule morphology, Growth delay, Edema, Ascites, Hypertrophic cardiomyopathy OMIM:611719
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Mulibrey Nanism
Hydrops fetalis, Myocardial fibrosis, Growth delay, Hepatomegaly, Nephroblastoma, Ascites, Short ... OMIM:253250
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hydrops fetalis, Lymphedema, Pleural effus... ORPHA:90362
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... OMIM:235400
Hypocomplementemic Urticarial Vasculitis
Hematuria, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Glomerulopath... ORPHA:36412
Muckle-Wells Syndrome
Renal amyloidosis, Maculopapular exanthema, Conjunctivitis, Elevated circulating C-reactive prote... OMIM:191900
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Pancreatitis, Dilated cardio... OMIM:618805
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Xfe Progeroid Syndrome
Renal insufficiency, Ascites, Severe short stature, Proteinuria OMIM:610965
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatic steatosis, Proximal tubulopathy, Pericardial effusion, Hypocholesterolemi... OMIM:212065
Free Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Splenomegaly, Ascites, Nephrotic syndrome, Proteinuria ORPHA:834
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Growth delay, Hyperlysinemia, Hyperammonemia, Hyperlysinuria OMIM:238750
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Hepatic steatosis, Hepatocellular carcinoma, Enuresis, Acu... ORPHA:247585
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic... OMIM:613845
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Abnor... ORPHA:1655
Liddle Syndrome
Renal insufficiency, Hypokalemia, Nephropathy ORPHA:526
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Cryptorchidism, Pancreatic lymphangiectasis, Hypoproteinemia, Hypocalcemia, Ventr... OMIM:235255
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Hepatomegaly, Pulmonic stenosis, Ascites, Spleno... ORPHA:2414
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:223900
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Hypoalbuminemia ORPHA:1954
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Elevated circulating thyroid-stimulating hormone... OMIM:242900
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Cednik Syndrome
Proteinuria, Short stature, Nephrotic syndrome ORPHA:66631
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Nodular regenerative hyperplasia of liver, Elevated circu... ORPHA:247691
Galactosemia
Cryptorchidism, Cirrhosis, Increased level of galactitol in plasma, Hypergalactosemia, Hepatomega... ORPHA:352
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema, Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circula... ORPHA:103910
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia, Bronchiectasis OMIM:241600
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Cirrhosis, Hepatomegaly, Ascites, Hypoalbuminemia, Nonimmune hydrops fetalis, Dil... ORPHA:367
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jon... ORPHA:100024
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Growth delay, Elevated creatine kinase after exercise, Myoglobinuria, Hyperk... ORPHA:57
Systemic Sclerosis
Osteomyelitis, Acute kidney injury, Albuminuria, Pericarditis, Glomerulonephritis, Arthritis, Chr... ORPHA:90291
Hydrops Fetalis
Polyhydramnios, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial effusion, Ab... ORPHA:1041
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Hepatic fibrosis, Lymphangiectasis, Hypoalbuminemia OMIM:602579
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Lymphedema, Pl... OMIM:235510
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Growth delay, Pancreatitis, Renal insufficiency, Hyperammonemia ORPHA:289916
Eosinophilic Gastroenteritis
Leukocytosis, Edema, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anem... ORPHA:2070
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Hematuria, Pleural effusion, Lymphopenia, Dark urine, Abnormal... ORPHA:93552
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphedema, Pleural effusion, Lymphopenia, Pedal edema, Decreased ... ORPHA:90363
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Elevated... OMIM:137920
Klippel-Trénaunay Syndrome
Hydrops fetalis, Hematuria, Atrial septal defect, Microcytic anemia, Abnormal tricuspid valve mor... ORPHA:90308
Trichohepatoenteric Syndrome 1
Polyhydramnios, Jaundice, Hypoalbuminemia, Galactosuria, Cirrhosis, Hypermethioninemia, Hypospadi... OMIM:222470
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Hypoalbu... ORPHA:64753
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Decreas... OMIM:215250
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Recurrent myoglobinuria, Highly elevated creatine kinase, Chroni... ORPHA:368
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Atrial septal defect, Patent foramen ovale, Enlarged kidney, Abn... ORPHA:505248
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypophosphatemic ric... OMIM:300554
Gracile Bone Dysplasia
Hypocalcemia, Asplenia, Ascites, Short stature, Hypoplastic spleen, Micropenis OMIM:602361
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Short stature, Nephropathy, Nephrotic syndrome ORPHA:1192
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Oligohydramnios, Increased circulating antibody level, Ped... ORPHA:86816
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Azotemia, Familial
Azotemia OMIM:109160
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Acute kidney injury, Superficial dermal perivascular inflammatory infiltrate, Elevated c... ORPHA:284426
Chylous Ascites
Lymphedema, Ascites, Pancreatitis ORPHA:1160
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Hydronephrosis, Asc... OMIM:616897
Familial Atrial Myxoma
Pedal edema, Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Ascites,... ORPHA:615
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Short stature, Stage 5 chronic kidney disease ORPHA:3156
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Rhizomelia, Chronic kidney disease, Short stature OMIM:617661
Combined Oxidative Phosphorylation Deficiency 33
Oligohydramnios, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Nephrotic syndrome, El... OMIM:617713
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Hyperuricem... OMIM:248250
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Biliary cirrhos... ORPHA:53035
Avian Influenza
Myelitis, Acute kidney injury, Pneumonia, Conjunctivitis, Hepatitis, Hypoalbuminemia, Elevated ci... ORPHA:454836
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Cystinosis
Hypophosphatemia, Aminoaciduria, Nephropathy, Delayed puberty, Hypokalemia, Short stature, Renal ... ORPHA:213
Multiple Myeloma
Acute kidney injury, Pleural effusion, Elevated circulating creatinine concentration, Increased c... ORPHA:29073
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Mesomelic short stature, Nephropathy, Short stature, Intrauterine growth retardation, ... ORPHA:1765
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Short stature, Nephrotic syndrome, Intrauter... OMIM:251300
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Ethanolaminosis
Cardiomegaly OMIM:227150
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Focal segmental glomerulosclerosis, Renal tubular atrophy, Decreased glomerular filtration rate, ... OMIM:614748
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal urinary color, Myoglobinuria ORPHA:98895
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubul... OMIM:256100
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Wolman Disease
Bone-marrow foam cells, Growth delay, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Lymphadenitis, Leukocytosis, C... OMIM:618886
Glycogen Storage Disease Vi
Hypercholesterolemia, Increased hepatic glycogen content, Postnatal growth retardation, Hepatomeg... OMIM:232700
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Endocardial fibroelastosis, Impa... OMIM:619313
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Apparent Mineralocorticoid Excess
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Short stature, Intrauterine ... ORPHA:320
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Abnormal circulating homocysteine concentration, Growth delay, Hepatocellular ca... ORPHA:88618
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Mild postnatal grow... OMIM:265300
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis OMIM:616239
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated circulating creatinine concen... ORPHA:91547
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Proteinuri... ORPHA:470
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia, Hyperechogenic kidneys OMIM:617595
Glycogen Storage Disease Vii
Increased total bilirubin, Gout, Exercise-induced myoglobinuria, Hyperuricemia OMIM:232800
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Nocturia, Elevated circulating creatini... ORPHA:230
Megabladder, Congenital
Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:618719
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema, Cardiomega... OMIM:115197
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hydronephro... OMIM:214100
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Lymphatic Malformation 6
Polyhydramnios, Hydrocele testis, Atrial septal defect, Lymphedema, Pleural effusion, Facial edem... OMIM:616843
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Arthritis, Myositis, Crohn's disease, Acne, Proteinuria ORPHA:69126
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Hennekam Syndrome
Hypocalcemia, Hydrops fetalis, Horseshoe kidney, Lymphedema, Decreased circulating antibody level... ORPHA:2136
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Gout, Stage 5 chronic kidney disease OMIM:618061
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Hyperbilirubinemia, Myoglobinuria ORPHA:713
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Panhypogammaglobulinemia, Abnormal nat... ORPHA:79124
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Renal tubular acidosis, Hepatomegaly, Cardiomegaly, Elevated circulating creat... OMIM:255120
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Hypernatremia, Growth delay, Functional abnormality of the bladder, S... ORPHA:223
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Ascites, Leukopenia ORPHA:99828
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Primary Biliary Cholangitis
Cirrhosis, Increased circulating IgM level, Hepatocellular carcinoma, Conjugated hyperbilirubinem... ORPHA:186
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Ascites, Lymphadenopathy ORPHA:26790
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Short stature, Nephropathy ORPHA:474
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level, Ascites, Abnormality of the ... ORPHA:284227
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Hypercalciuria, Hypercalcemia, Intrauterine growth retardation, Hyp... OMIM:614732
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Abnormality of the uret... ORPHA:158684
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperox... OMIM:167030
Mucopolysaccharidosis Type 7
Hydrops fetalis, Mucopolysacchariduria, Lymphedema, Hepatitis, Ascites, Splenomegaly ORPHA:584
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:119
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Primary Sclerosing Cholangitis
Cirrhosis, Polyclonal elevation of IgM, Neoplasm of the gallbladder, Pleural effusion, Portal hyp... ORPHA:171
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubular atrophy, Ren... OMIM:606966
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Intrauterine growth retardation, Hypoalbumine... OMIM:619055
Dyschondrosteosis And Nephritis
Mesomelic short stature, Nephritis OMIM:127350
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Testicular neopla... ORPHA:83469
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Enlarged ovaries, Biliary cirrhosis, Abnormal salivary gland morphology, Abn... ORPHA:2298
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Uveitis, Postnatal growth retardation, Conjunctivitis, Renal insuf... ORPHA:90321
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Nephritis, Pyelonephritis, Unilateral renal atrophy OMIM:314300
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Abnormal myocardium morphology, Cystic renal d... ORPHA:228308
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Hypoalbuminemia, Acne OMIM:614441
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Alstrom Syndrome
Recurrent pneumonia, Chronic active hepatitis, Hyperuricemia, Otitis media, Hypertriglyceridemia,... OMIM:203800
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Pedal edema, Thrombocytopenia, Acute my... ORPHA:86839
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Renal hypoplasia, Hepatic fibrosis, Renal cyst, Polycystic kidney dysplasia, Sho... OMIM:614091
Wilson Disease
Hyperphosphaturia, Proteinuria, Aminoaciduria, Glycosuria, Hypercalciuria, Atypical or prolonged ... OMIM:277900
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Hyperoxaluria, Enuresis, Decreased glomer... ORPHA:93598
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Methylmalonic acidemia, St... OMIM:251000
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia OMIM:177200
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypercalcemia, Pancreatitis, Parathormone-indep... OMIM:600740
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Acute kidney injury, Increased inflammatory response, Elevated circulating creatinine ... ORPHA:542323
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia, Peripheral edema ORPHA:2494
Laurence-Moon Syndrome
Renal insufficiency, Displacement of the urethral meatus, Short stature, Hypoplasia of penis ORPHA:2377
Ebola Hemorrhagic Fever
Renal insufficiency, Skin rash, Proteinuria ORPHA:319218
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Pleural effusion, Abnormal pericardium morphology, Pleur... ORPHA:67
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Hyperammonemia, Pancreatitis ORPHA:79312
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Viral hepatitis, Glomerulopathy, Keratoconjunctivitis sicca, Renal insuff... ORPHA:91138
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Abnormality of the upper urinary tract, Intrauterine... ORPHA:99885
Ovarian Fibroma
Peritonitis, Abnormality of the ovary, Pleural effusion, Mesenteric cyst, Ascites, Ovarian fibroma ORPHA:314473
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Ventricular septal hypertrophy, Elevated circulating creat... ORPHA:370
Necrotizing Enterocolitis
Peritonitis, Abnormal heart morphology, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia... ORPHA:391673
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Classic Galactosemia
Cryptorchidism, Hepatomegaly, Jaundice, Delayed puberty, Ascites, Abnormal erythrocyte enzyme lev... ORPHA:79239
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Pancreatitis ORPHA:27
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb ly... ORPHA:69735
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Hypomethioninemia, Methylmal... OMIM:277400
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Intrauterine growt... OMIM:608013
Legionnaires Disease
Hematuria, Pericarditis, Endocarditis, Myocarditis, Lymphopenia, Hyponatremia, Jaundice, Hepatiti... ORPHA:549
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Decreased plasma total carnitine, Ventricular hypertrophy, Hepatic steatosis, De... ORPHA:228305
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Glycosuria, Renal tubula... OMIM:210550
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Hypercalcemia, Proteinuria OMIM:171420
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis, Postnatal growth retardation OMIM:179800
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Renal insufficiency, Short stature, Nephropathy ORPHA:1563
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Growth delay, Periodontitis, Moderate albuminuria, Hydronephrosis OMIM:619269
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Short stature, Oroticaciduria, Hyperammonemia ORPHA:23
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Acute kidney injury, Anuria, Elevated circulating creatinine concentr... ORPHA:90038
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated urinary... ORPHA:42
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Short stature, Renal cyst OMIM:613390
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Oliguria, Conjunctivitis, Abnormal tubulointer... ORPHA:340
Familial Mediterranean Fever
Peritonitis, Pericarditis, Pedal edema, Orchitis, Nephropathy, Splenomegaly, Ascites, Pancreatiti... ORPHA:342
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypercholesterolemia, Microvesicular hepatic steatosis, Vacuolated lympho... ORPHA:275761
Goodpasture Syndrome
Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Glomerulonephritis, Macrosco... OMIM:233450
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Congenital Sialidosis Type 2
Abnormal heart morphology, Hepatomegaly, Edema, Ascites, Hepatosplenomegaly, Abnormality of the k... ORPHA:93400
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Hepatic ... OMIM:200995
Lymphangioleiomyomatosis