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 1.17×10-05

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Select physiological systems to view:
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.

Eye Morphology

VIP of left eye

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

Eye Morphology

VIP of left fundus

35 Images

Eye Morphology

VIP of right fundus

20 Images

Eye Morphology

VIP of left fundus

20 Images

X-ray

XRay Images Forepaw

21 Images

Eye Morphology

VIP of right eye

36 Images

Eye Morphology

VIP of right fundus

37 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Eye Morphology

VIP of left eye

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of right eye

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

X-ray

XRay Images Skull 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
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... 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, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... OMIM:615573
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Re... ORPHA:54370
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... OMIM:618176
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... OMIM:603278
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Hypoalbuminemi... ORPHA:84090
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... OMIM:308990
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Hypoalb... OMIM:618349
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... OMIM:619155
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Nail-Patella-Like Renal Disease
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:2613
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Diffuse me... OMIM:256300
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Short stature, Nephropathy, Gout, Focal segmental glomerulosclerosis, Ren... OMIM:617056
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Elevated circulating creatinine concentration, Nephropathy, Decreased glome... OMIM:242530
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra... OMIM:607665
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinur... OMIM:618347
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Short stature, Proteinuria, Glomerular sclerosis, Intrauterine growth retarda... 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
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... OMIM:608709
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Fanconi Renotubular Syndrome 3
Growth delay, Aminoaciduria, Short stature, Glycosuria, Low-molecular-weight proteinuria, Elevate... OMIM:615605
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Short stature, Increased total bilirubin, Conjugated hyperbilirubinem... OMIM:619868
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomer... OMIM:617006
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency, Bone-marrow foam cells, Pericardial effusio... OMIM:256150
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... ORPHA:275555
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Galactosemia I
Increased level of galactitol in urine, Increased level of galactitol in red blood cells, Aminoac... OMIM:230400
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... ORPHA:79233
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Growth delay, Anemia, Lymphadenop... ORPHA:100025
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... OMIM:300555
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Glycogen Storage Disease X
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:261670
Glycogen Storage Disease Xi
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... OMIM:612933
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Arthritis, Stage 4 chronic kidney disease, Acute kidney injury, Hy... ORPHA:411536
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Cholestasis, Conjugated hyperbilir... OMIM:620010
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... OMIM:609814
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Short stature, Eczema, Ig... OMIM:618348
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... OMIM:611555
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst, Increased total bilirubin, Ascites OMIM:174050
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Micropenis, Hypospadias, Hepatosplenomegaly, Hemolytic anemia, Ascites OMIM:600461
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria OMIM:245900
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Renal insufficiency, Ascites, Jaundice ORPHA:890
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Facial edema, Splenomegaly, Urinary excretion of sialylated... OMIM:256550
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Hydrops fetalis, Polyhydramnios, Renal insufficiency, Hyp... ORPHA:2123
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Pauci-Immune Glomerulonephritis
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... ORPHA:93126
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... ORPHA:567546
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria, Hyperuricemia ORPHA:510
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Hypoalbumin... ORPHA:255249
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Hydrops fetalis, Conjugat... OMIM:269920
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Decreased circu... OMIM:308240
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Jaundice, Cirrhosis, Cholestasis, Hypoalbuminemia, Ascites, Int... OMIM:617156
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedullary differentiation, E... OMIM:616733
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... ORPHA:2364
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... OMIM:194080
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent pneumonia, Renal insuffic... OMIM:613779
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retar... ORPHA:295
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Glycosuri... OMIM:134600
Retinitis Pigmentosa 59
Intrauterine growth retardation, Renal insufficiency, Micropenis OMIM:613861
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Elevated circulating creatinine ... OMIM:614376
Glycogen Storage Disease V
Dark urine, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperuricemia OMIM:232600
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Decreased circulating antibody level... OMIM:301045
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Podagra OMIM:300323
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Intrauterine gro... OMIM:619487
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Short stature, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal ins... OMIM:613388
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Generalized edema, Decreased circulating IgA level, Decreased circulating to... ORPHA:90362
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Ascites, Renal insufficiency, Hypercalcemia OMIM:240150
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia ORPHA:79327
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu... OMIM:615993
Sialidosis Type 2
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Nephropathy, Pedal edema, Ascites ORPHA:87876
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Hyperbilirubinemia, Micronodular cirrhosis, Splenomegaly, ... OMIM:251880
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... ORPHA:63
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Wolcott-Rallison Syndrome
Double outlet right ventricle, Chronic kidney disease, Neutropenia, Hepatomegaly, Hyperbilirubine... ORPHA:1667
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration ORPHA:225
Nephronophthisis
Renal insufficiency ORPHA:655
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... ORPHA:439232
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Short stature, Macroscopic hematuria, Membranoproliferative glomer... ORPHA:251004
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Oligohydramnios, Cholestasis, Elevated circulating creatinine conce... OMIM:608104
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Hypoalbuminemia OMIM:227090
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease OMIM:619603
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria,... OMIM:105200
Uremic Pruritus
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... ORPHA:94059
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Gout, Tubulointerstitial nephritis, Multiple small m... OMIM:603860
Glycogen Storage Disease Iv
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Tubulointerstitial fibrosis, Polyhydramnios, Port... OMIM:232500
Hypouricemia, Renal, 1
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... OMIM:220150
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Short statur... OMIM:232200
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Thrombocytopenia, Ascites, Anemia, Lymphadenopathy, Intrauterine growth r... ORPHA:858
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Hereditary Xanthinuria
Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infections, Xanthinuria, Hyperxanthin... ORPHA:3467
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Atrial septal defect, Splenomegaly, Renal tubular at... OMIM:617303
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Al Amyloidosis
Hepatomegaly, Renal interstitial amyloid deposits, Proteinuria, Albuminuria, Howell-Jolly bodies,... ORPHA:85443
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Hydrops fetalis, Proteinuria, Ascites ORPHA:834
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypoalbu... OMIM:616000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Short stature, Leukopenia, ... ORPHA:381
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hypo... OMIM:619013
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Gout, Arthritis, Renal insufficiency, Hyperuricemia, Acute kidney ... ORPHA:411543
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Elevated circulating creatine kinase concentration, ... OMIM:607426
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Glomerular sclerosis OMIM:619428
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating anti... OMIM:226300
Cystinuria
Nephrolithiasis, Hematuria, Hyperuricemia, Renal insufficiency ORPHA:214
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria ORPHA:220
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuri... ORPHA:77259
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Edema, Neutropenia OMIM:600351
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Bicuspid aortic valve, Atrial septal defect, Short stature, Decr... OMIM:617744
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ve... ORPHA:261222
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic glycogen content, Abnormality of t... ORPHA:369
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Decreased circulating IgG level... OMIM:613070
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Polyhydramnios, De... OMIM:618183
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia OMIM:300539
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Aminoaciduria, Pancreatitis, Elevated circulating creatine kinase concentration, ... OMIM:619386
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Cirrhosis, Hepa... OMIM:276700
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... ORPHA:93110
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Neutropenia, Decreased glomerular filtration rate,... OMIM:232220
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Cir... OMIM:235200
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Cirrhosis, Renal cyst, Hepatic fibrosis, Hypoalbuminemia, Edema, Proximal tubulopat... OMIM:602579
Senior-Boichis Syndrome
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... ORPHA:84081
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Short stature, Hypoalbuminemia, Proteinuria, Int... OMIM:617729
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Gout, Foca... OMIM:232240
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Combined Oxidative Phosphorylation Deficiency 5
Abnormal renal tubule morphology, Edema, Growth delay, Hypertrophic cardiomyopathy, Ascites OMIM:611719
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc... ORPHA:540
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... OMIM:613095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemi... OMIM:246700
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Hydrops fetalis, Myocarditis, Abnormal macrophage morph... ORPHA:292
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... ORPHA:411634
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Short stature, Nephroblastoma, Hydrops fetalis, Growth delay, ... OMIM:253250
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Disproportionat... ORPHA:1830
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Short stature, Glycosuria, Proteinuria, Hyperphosphaturia, Nephr... OMIM:616026
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hydrops fetalis, Pleural effusio... ORPHA:2414
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... OMIM:120330
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia... OMIM:608776
Wilson Disease
Hepatomegaly, Glycosuria, Pedal edema, Proteinuria, Portal fibrosis, Jaundice, Hypouricemia, Rena... OMIM:277900
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Bacterial Toxic-Shock Syndrome
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Recurr... ORPHA:36234
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Short stature, Maculopapular exanthema, Re... OMIM:191900
Familial Renal Glucosuria
Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary tract infecti... ORPHA:69076
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Hematuria, Glomerulopathy, Angioedema, Renal insufficiency, Proteinur... ORPHA:36412
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... OMIM:613845
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperammonemia, Hyperlysinuria, Growth delay, Dibasicaminoaciduria OMIM:238750
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic s... OMIM:618805
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hemoph... OMIM:603553
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Hepatosplenomegaly, Membranoproliferative glomerulon... OMIM:619858
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:223900
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Pancreatitis, Hypoproteinemia, Delayed menarc... ORPHA:247585
Hydrops Fetalis
Abnormality of the kidney, Abnormality of the urinary system, Nonimmune hydrops fetalis, Abnormal... ORPHA:1041
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:375
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Dilated c... ORPHA:367
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Myh9-Related Disease
Renal insufficiency, Nephropathy, Nephritis, Proteinuria ORPHA:182050
Cednik Syndrome
Nephrotic syndrome, Proteinuria, Short stature ORPHA:66631
Systemic Sclerosis
Chronic kidney disease, Osteomyelitis, Recurrent skin infections, Abnormality of the kidney, Elev... ORPHA:90291
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Micropenis, Splenomegaly, Pulmonary lymphangiectasia... ORPHA:1655
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Macular edema, Nephropathy, Normocytic anemia, Nodular re... ORPHA:247691
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Hypoalbuminemia ORPHA:1954
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal i... ORPHA:93599
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Galactosemia
Hepatomegaly, Cirrhosis, Increased level of galactitol in plasma, Abnormal erythrocyte enzyme lev... ORPHA:352
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Trichohepatoenteric Syndrome 1
Hepatomegaly, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abnormality of iron h... OMIM:222470
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Micropenis, Splenomegaly, Pulmonary lymphangiectasia... OMIM:235255
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Gracile Bone Dysplasia
Hypocalcemia, Short stature, Micropenis, Hypoplastic spleen, Ascites, Asplenia OMIM:602361
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Edema, Abnormal ... ORPHA:103910
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... ORPHA:158061
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalcemia, Elevated urinary epinephrine, E... ORPHA:276621
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Growth delay, Hyperk... ORPHA:57
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Chronic kidney disease, Elevated circulating creatine kinase... ORPHA:368
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... OMIM:301050
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... ORPHA:85445
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Pulmonary edema, Abnormal A-type atrial natriuretic pepti... ORPHA:57777
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Pedal edema, Ascites, Jaundice, Cardi... ORPHA:615
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Short stature, Cor pulmonale, Mucopolysaccha... OMIM:215250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Pancreatitis, Hyperammonemia, Renal insufficiency, Growth delay ORPHA:289916
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Immunodeficiency 43
Bronchiectasis, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Short stature ORPHA:1192
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Lymphopenia, Neutropenia, Anemia, Disproportionate short-trunk short stature,... OMIM:242900
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Lymphopenia, Nephritis, Abnormality of the urinary system, Leukop... ORPHA:93552
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... ORPHA:64753
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Superficial dermal peri... ORPHA:284426
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Right ventricular hype... OMIM:613404
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Hydrops fetalis, Ascites OMIM:619433
Klippel-Trénaunay Syndrome
Hepatomegaly, Atrial septal defect, Hydrops fetalis, Hematuria, Microcytic anemia, Edema, Abnorma... ORPHA:90308
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Senior-Loken Syndrome
Chronic kidney disease, Short stature, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Mild postnatal growth retardation, Thyroid lymphangiectasia, Pleural lympha... OMIM:235510
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, G... OMIM:137920
Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Nephropat... ORPHA:213
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Nephrotic syndrome, Hepatomegaly, Decreased circulating IgG leve... OMIM:212065
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile... OMIM:617394
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Myositis, Oliguria, Hyperphosphatemia, Renal i... ORPHA:99845
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... OMIM:300554
Congenital Analbuminemia
Increased circulating antibody level, Hyperlipidemia, Facial edema, Hypoproteinemia, Increased al... ORPHA:86816
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Decreased lymphocyte proliferation in response to a... OMIM:619313
Azotemia, Familial
Azotemia OMIM:109160
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... ORPHA:99879
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Atrial septal defect, Decreased circulating IgG level, Hepatosplenomegaly, Le... ORPHA:505248
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Ascites, Hyd... OMIM:616897
Systemic Lupus Erythematosus
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis OMIM:152700
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, St... OMIM:616307
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Dyschondrosteosis-Nephritis Syndrome
Short stature, Nephropathy, Hematuria, Proteinuria, Intrauterine growth retardation, Mesomelic sh... ORPHA:1765
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Increased level of L-fucose in urine, Inc... OMIM:215600
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,... ORPHA:29073
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Nephrotic syndrome, Eczematoid dermatit... ORPHA:37042
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Ethanolaminosis
Cardiomegaly OMIM:227150
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Edema, Portal hypertension ORPHA:79319
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Chylous Ascites
Lymphedema, Pancreatitis, Ascites ORPHA:1160
Xfe Progeroid Syndrome
Renal insufficiency, Severe short stature, Hypoalbuminemia, Proteinuria OMIM:610965
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated alpha-fetoprotein, Cirrhosis, Nonimmune hydrops fetalis, Conjugated hype... OMIM:617049
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... OMIM:308940
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly ORPHA:2198
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... OMIM:610984
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Hematur... ORPHA:91547
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Reduced circulating transferrin concentration, Lymphopenia, Cirr... ORPHA:90363
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Diffuse mesangial sclerosis, Short stature, Focal segmental glomerulosclerosi... OMIM:251300
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Short stature, Splenomegaly, Microcytic anemia, Prolonged n... OMIM:257200
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Hyperchol... OMIM:232700
Wolman Disease
Hepatomegaly, Splenomegaly, Growth delay, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Hypercalcemia, Elevated ... ORPHA:29072
Glycogen Storage Disease Vii
Increased total bilirubin, Gout, Hyperuricemia, Exercise-induced myoglobinuria OMIM:232800
Megabladder, Congenital
Multiple glomerular cysts, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Fetal megacystis OMIM:618719
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Short stature, Hypoalbuminemia, Decreased circulating copper concentration, Erythroderma, Conjunc... OMIM:242150
Becker Muscular Dystrophy
Abnormal urinary color, Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:98895
Alg6-Cdg
Decreased LDL cholesterol concentration, Jaundice, Hypoalbuminemia, Abnormality of the liver ORPHA:79320
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Hypokalemia, Short stature, Abnormal urine sodium concentration,... ORPHA:320
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hepatomegaly, Pancreatitis, Decreased glomerular fi... ORPHA:470
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Decreased seru... ORPHA:447
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Elevated circulating creatini... ORPHA:230
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration OMIM:616239
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Mild postnatal growth retardation, Pulmonary lymphangiectasia, Chylous... OMIM:265300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Enlarged kidney, Elevated circulating creatinine concentration, Cardiomegaly, Long-... OMIM:608836
Orthostatic Hypotension 1
Nocturia, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Proteinuria, Acne ORPHA:69126
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease OMIM:618061
Nephrogenic Diabetes Insipidus
Short stature, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladder, ... ORPHA:223
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria, Hyperbilirubinemia ORPHA:713
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concen... OMIM:255120
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Cry... ORPHA:79324
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia... ORPHA:79124
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Lymphatic Malformation 6
Hydrocele testis, Atrial septal defect, Facial edema, Genital edema, Short stature, Splenomegaly,... OMIM:616843
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Tempi Syndrome
Increased hematocrit, Polycythemia, Abnormality of the kidney, Increased circulating IgG level, T... ORPHA:284227
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadias, Hydronephro... OMIM:214100
Primary Biliary Cholangitis
Increased circulating IgA level, Abnormal circulating lipid concentration, Cirrhosis, Hepatocellu... ORPHA:186
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Uveitis, Renal insufficiency, Proteinuria, Postnatal growth retard... ORPHA:90321
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Plasminogen Deficiency, Type I
Nephrolithiasis, Periodontitis, Nephritis, Decreased level of plasminogen, Conjunctivitis OMIM:217090
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Lymphangioma, Mild postnatal growth retardation, Splenomegaly, Chyloth... ORPHA:2136
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:119
Pseudo-Torch Syndrome 2
Hepatomegaly, Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Ple... OMIM:617397
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Unilateral renal atrophy, Nephritis, Renal dysplasia OMIM:314300
Pseudomyxoma Peritonei
Lymphadenopathy, Ascites, Abnormality of the peritoneum ORPHA:26790
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Dyschondrosteosis And Nephritis
Mesomelic short stature, Nephritis OMIM:127350
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis, Short stature ORPHA:474
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Mucopolysaccharidosis Type 7
Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Mucopolysacchariduria, Ascites ORPHA:584
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Growth delay, Ren... OMIM:606966
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Dengue Fever
Hepatomegaly, Hypoproteinemia, Leukopenia, Thrombocytopenia, Ascites ORPHA:99828
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Short stature, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia OMIM:617661
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal hypop... OMIM:617595
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration, Increased inflammat... ORPHA:542323
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, H... ORPHA:228308
Alg8-Cdg
Oligohydramnios, Hydrops fetalis, Hyponatremia, Edema, Anemia, Thrombocytopenia, Intrauterine gro... ORPHA:79325
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Abnormal circulating fatty-acid concentration, Nephritis, Abnorm... ORPHA:2298
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglo... OMIM:194380
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Testicular... ORPHA:83469
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Hepatomegaly, Pancreatitis... ORPHA:171
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperprolinemia... ORPHA:79101
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Maculopapular exanthem... OMIM:619644
Alstrom Syndrome
Chronic active hepatitis, Nephritis, Short stature, Otitis media, Decreased HDL cholesterol conce... OMIM:203800
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Intrauterine growth retardation, Hypoalbumine... OMIM:619055
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Laurence-Moon Syndrome
Renal insufficiency, Displacement of the urethral meatus, Hypoplasia of penis, Short stature ORPHA:2377
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... ORPHA:157
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... OMIM:248190
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Renal cyst, Nephropathy, Hematuria OMIM:611773
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Glycosuria, Moderat... ORPHA:99885
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Renal insufficiency OMIM:177200
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Hypoalbuminemia, Acne OMIM:614441
Ménétrier Disease
Hypochromic microcytic anemia, Peripheral edema, Hypoalbuminemia, Hypoproteinemia ORPHA:2494