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Gene: Cd2ap MGI:1330281

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Cd2apem1(IMPC)Bay HOM Early adult 2.59×10-05

Download data as:  TSV  XLS

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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 fundus

36 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

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Eye Morphology

VIP of left eye

37 Images

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X-ray

XRay Images Skull Lateral Orientation

21 Images

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Eye Morphology

VIP of right eye

37 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Eye Morphology

VIP of right eye

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Forepaw

21 Images

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Eye Morphology

VIP of right fundus

37 Images

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Eye Morphology

VIP of right fundus

20 Images

View images
X-ray

XRay Images Skull Lateral Orientation

8 Images

View images
Eye Morphology

VIP of left fundus

20 Images

View images
Eye Morphology

VIP of left eye

20 Images

View images
X-ray

XRay Images Forepaw

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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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
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... 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
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Nephrotic Syndrome, Type 17
Short stature, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:603278
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Nephropathy, Chronic kidney disease, Elevated circulating creatinine concentration... OMIM:617056
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria ORPHA:2613
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... 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, Steroid-resistant nephrotic syndrome OMIM:616220
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... OMIM:614455
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... OMIM:614377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... OMIM:242530
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Galloway-Mowat Syndrome 6
Short stature, Proteinuria, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... OMIM:618347
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Severe short stature, Proteinuria ORPHA:2820
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Galloway-Mowat Syndrome 2, X-Linked
Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... OMIM:617575
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool... OMIM:619868
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Am... OMIM:615605
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Nephrosialidosis
Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Nephropath... OMIM:256150
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, As... ORPHA:100025
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Galactosemia I
Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, Hypergalactose... OMIM:230400
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... OMIM:300555
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... OMIM:620010
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Short stature, Proteinuria, Eczema, Minimal change glomerulonephriti... OMIM:618348
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Renal cyst, Increased total bilirubin OMIM:174050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease OMIM:615995
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma... ORPHA:1046
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-... OMIM:256550
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia, Gout ORPHA:510
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Polyhydramnios, Renal hypoplasia/aplasia, Throm... ORPHA:2123
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... OMIM:613496
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Elevated circulating creatinine concentration, Abnormal renal corti... OMIM:616733
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... ORPHA:295
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Bardet-Biedl Syndrome 16
Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, R... OMIM:615993
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Hypoalbuminemia, Hypocalcemia, Decreased proportion of CD3-positive T... ORPHA:90362
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Elevated circulating creatinine conce... OMIM:614376
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Aicardi-Goutieres Syndrome 9
Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic ... OMIM:619487
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hypospadias, Jaundice, Micronodular c... OMIM:301045
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney ORPHA:79327
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration, Reduced natur... OMIM:616050
Nephronophthisis
Renal insufficiency ORPHA:655
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:620235
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Oligohydramnios, Hyperammonemia, Pleural effusion, Hyperalani... OMIM:614702
Sialidosis Type 2
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Nephropathy, Ascites ORPHA:87876
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Renal insufficiency, Short stature, Jaundice, Chronic kidney disease,... ORPHA:1667
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Short stature, Hypercalcemia, Proteinuria, Macroscopic ... ORPHA:251004
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentrat... OMIM:608104
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephr... OMIM:105200
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Hypoalbuminemia OMIM:227090
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Glycogen Storage Disease Ia
Short stature, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Growth delay, Focal segmental ... OMIM:232200
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Intrauterine growth reta... ORPHA:858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho... OMIM:618913
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... ORPHA:3467
Lessel-Kubisch Syndrome
Renal insufficiency, Short stature, Renal hypoplasia OMIM:618681
Glycogen Storage Disease Iv
Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... OMIM:232500
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con... OMIM:620366
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... OMIM:607426
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Short stature, Bicuspid aortic valve, Decreased circulating IgA level, Decr... OMIM:617744
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, ... OMIM:226300
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Splenomegaly, Hydrops fetalis, Nephrotic syndrome, Ascites ORPHA:834
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia ORPHA:214
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Hypersplenism, Throm... ORPHA:77259
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Nephrotic syndrom... OMIM:617303
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Azoosperm... OMIM:235200
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ... ORPHA:411543
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve... ORPHA:261222
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Griscelli Syndrome
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal... ORPHA:381
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... ORPHA:85443
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypo... OMIM:619013
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Splenomeg... ORPHA:64743
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... OMIM:619386
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... OMIM:251880
Analbuminemia
Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, H... OMIM:616000
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Proteinuria, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, Hy... ORPHA:369
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Short stature, Pancreatic fibrosis, Hepatocellular carcinoma, Splenome... OMIM:232220
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Heme Oxygenase 1 Deficiency
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... OMIM:614034
Combined Oxidative Phosphorylation Deficiency 5
Edema, Hyperammonemia, Growth delay, Hypertrophic cardiomyopathy, Ascites, Abnormal renal tubule ... OMIM:611719
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... ORPHA:79147
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, A... OMIM:241600
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... ORPHA:2137
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, P... ORPHA:2414
Muckle-Wells Syndrome
Renal insufficiency, Short stature, Maculopapular exanthema, Elevated circulating C-reactive prot... OMIM:191900
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Conjugated hyperbilirubinemia, Postnatal growth retardation, Intrah... OMIM:617093
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Edema, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhos... OMIM:602579
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, M... ORPHA:1830
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ... ORPHA:324525
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Congenital Enterovirus Infection
Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,... ORPHA:292
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... OMIM:120330
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f... ORPHA:540
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia OMIM:238750
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hematuria, Focal se... OMIM:232240
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Short stature, Proteinuria, Nephrocalcinosis, Glycosuria, Aminoa... OMIM:616026
Hydrops Fetalis
Abnormality of the kidney, Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fe... ORPHA:1041
Mulibrey Nanism
Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Growth delay, Pe... OMIM:253250
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Renal Hypoplasia, Bilateral
Hyponatremia, Short stature, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia,... ORPHA:97362
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology... OMIM:608776
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule... ORPHA:247353
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... OMIM:223900
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Abnormal heart valve morphology, ... ORPHA:36412
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis... OMIM:618183
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Short stature, Proteinuria, Stage 5 chronic kidney disease, Nephroti... OMIM:617729
Wilson Disease
Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Aminoaciduria, Hypoalbumin... OMIM:277900
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Elevated circulating creatine... ORPHA:36234
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Generalized edema, Edema, Reduced... OMIM:603553
Diarrhea 13
Hypoalbuminemia OMIM:620357
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, ... OMIM:615122
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis ORPHA:375
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Genera... OMIM:267700
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth d... OMIM:619858
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic steatosis, Panc... OMIM:618805
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating c... ORPHA:247691
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Dilated cardiomyopa... ORPHA:367
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Growth delay, Hypoalbuminemia, Hypocholesterolemia, Hypo... OMIM:246700
Cednik Syndrome
Nephrotic syndrome, Short stature, Proteinuria ORPHA:66631
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio... ORPHA:90291
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... ORPHA:247585
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Cryptorchi... ORPHA:1655
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated hyperbilirubinemia, ... OMIM:617156
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Growth delay, Renal tubular dysfunction, Pancreatitis ORPHA:289916
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia, Growth delay, Myoglobinuria, Acute kidney ... ORPHA:57
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Hypoalbuminemia ORPHA:1954
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... OMIM:619313
Trichohepatoenteric Syndrome 1
Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Short stature, Incr... OMIM:222470
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Gracile Bone Dysplasia
Short stature, Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Ascites OMIM:602361
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Portal vei... OMIM:619433
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Short stature, Proteinuria ORPHA:1192
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... ORPHA:100024
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Postnatal growth retardation, Generalize... OMIM:227810
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Pulmonary edema, Left atrial enlarge... ORPHA:57777
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pleural lymphangiectasia, Pericardial lymphangiectasia, Mild postnatal grow... OMIM:235510
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Cr... OMIM:235255
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Short stature, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Ne... OMIM:215250
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Lymphadenopathy, Hemat... ORPHA:93552
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Bacteria... ORPHA:615
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Leukocytosis, Hypoalb... ORPHA:2070
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Senior-Loken Syndrome
Chronic kidney disease, Short stature, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Cystinosis
Renal insufficiency, Short stature, Proteinuria, Hypophosphatemia, Renal tubular dysfunction, Hyp... ORPHA:213
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... OMIM:300554
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusion, ... OMIM:212065
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Proteinuria, Ventricular septal defect, Conjugated hyperbilir... OMIM:613404
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Abnormal immunoglobulin level, Bilateral cryptorc... OMIM:242900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Hypertroph... OMIM:616897
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Conjugated hyper... OMIM:617049
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... OMIM:154230
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Congenital Analbuminemia
Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Incr... ORPHA:86816
Klippel-Trénaunay Syndrome
Hepatomegaly, Edema, Microcytic anemia, Hydrops fetalis, Hematuria, Abnormal tricuspid valve morp... ORPHA:90308
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Dyschondrosteosis-Nephritis Syndrome
Short stature, Proteinuria, Nephropathy, Hematuria, Mesomelic short stature, Intrauterine growth ... ORPHA:1765
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Ethanolaminosis
Cardiomegaly OMIM:227150
Apparent Mineralocorticoid Excess
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... ORPHA:320
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Abnormal h... ORPHA:505248
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Xfe Progeroid Syndrome
Renal insufficiency, Severe short stature, Hypoalbuminemia, Proteinuria OMIM:610965
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Short stature, Proteinuria, Nephrotic syndrome,... OMIM:251300
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Reduced ... ORPHA:90363
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Leukocyto... OMIM:618886
Mpi-Cdg
Hepatomegaly, Portal hypertension, Edema, Hypoalbuminemia, Hepatic fibrosis ORPHA:79319
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Niemann-Pick Disease, Type A
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop... OMIM:257200
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Chylous Ascites
Ascites, Pancreatitis, Lymphedema ORPHA:1160
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Short stature, Decreased circulating copper co... OMIM:242150
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice ORPHA:79320
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Anemia ORPHA:75233
Lymphangiectasia, Pulmonary, Congenital
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema... OMIM:265300
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis OMIM:619462
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Retinitis Pigmentosa 59
Intrauterine growth retardation, Renal insufficiency, Micropenis OMIM:613861
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... ORPHA:230
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Hyperlipidemia, Hypercholestero... OMIM:232700
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom... OMIM:616843
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... OMIM:232800
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Orthostatic Hypotension 1
Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... OMIM:608836
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Short stature, Functional abnormality of the bladder, Enuresis ... ORPHA:223
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Hennekam Syndrome
Mild postnatal growth retardation, Ectopic kidney, Pericardial effusion, Splenomegaly, Lymphedema... ORPHA:2136
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Growth delay... OMIM:617595
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:212140
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Pseudo-Torch Syndrome 2
Hepatomegaly, Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Ple... OMIM:617397
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Aminoaciduria, Albuminuria, Elevated circulating long chain fatty acid concentration... OMIM:214100
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Alg12-Cdg
Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza... ORPHA:79324
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Postnatal growth retardation, Uveitis, Conjunctivitis, Increase... ORPHA:90321
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly... ORPHA:79101
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration OMIM:616239
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Increased circulating IgG level, Increa... ORPHA:284227
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Short stature... OMIM:203800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia OMIM:617661
Jeune Syndrome
Nephropathy, Renal insufficiency, Short stature, Nephronophthisis ORPHA:474
Alg8-Cdg
Hyponatremia, Edema, Hydrops fetalis, Anemia, Intrauterine growth retardation, Ascites, Thrombocy... ORPHA:79325
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... ORPHA:542323
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:201475
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, Bi... ORPHA:186
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... ORPHA:69076
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Pancreatitis, Hyperammonemia ORPHA:79312
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Short stature, Displacement of the urethral meatus ORPHA:2377
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated ... OMIM:619644
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine ki... OMIM:619055
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Dengue Fever
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... ORPHA:69735
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Mucopolysacchariduria, Ascites ORPHA:584
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Short stature, Proteinuria OMIM:616901
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H... ORPHA:171
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Pleural empyema, C... ORPHA:67
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... ORPHA:91138
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Increased circulating Ig... ORPHA:2298
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Pancreatitis, Hyperammonemia ORPHA:27
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Intraut... ORPHA:99885
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Acne, Seborrheic dermatitis OMIM:614441
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Abnormal lymphocyte proliferation, Atrial ... OMIM:619573
Classic Galactosemia
Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundice, Delayed puberty, Ascites ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesicular hepatic steatosis, Bile duct prolife... OMIM:618329
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Pleural effusion, Ascites, Abnormality of the ovary ORPHA:314473
Ménétrier Disease
Hypoproteinemia, Peripheral edema, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Cardiomegaly, Pericardial effusion, Muscu... OMIM:115197
Fumarase Deficiency
Increased urine succinate level, Bilateral fetal pyelectasis, Polyhydramnios, Intrahepatic choles... OMIM:606812
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Legionnaires Disease
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Jaundice... ORPHA:549
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat... ORPHA:228305
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Growth delay, Periodontitis, Moderate albuminuria, Hydronephrosis OMIM:619269
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hypospadias, Renal hypoplasia, Renal cyst, Hydrops fetalis, Hepatic fibrosis, Poly... OMIM:614091
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... ORPHA:42
Argininosuccinic Aciduria
Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia ORPHA:23
Necrotizing Enterocolitis
Hyponatremia, Edema, Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Ascites, ... ORPHA:391673
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Short stature, Hypocalcemia ORPHA:1563
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... OMIM:611881
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... OMIM:619991
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... OMIM:233450
Immunodeficiency 22
Pericarditis, Thrombocytopenia, Decreased circulating total IgM, Ascites, Decreased circulating I... OMIM:615758
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Postnatal growth retardation, Elevated amniotic fluid alpha-fet... ORPHA:96179
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Short stature, Unilateral renal agenesis ORPHA:281090
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Growth delay, Mild proteinuria, Hyperalaninemia OMIM:619147
Familial Mediterranean Fever
Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Pedal edema, Lymphadenopathy, Nep... ORPHA:342
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... OMIM:614732
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... ORPHA:90038
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Mi... ORPHA:275761
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, G... OMIM:615508
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... OMIM:259720
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... ORPHA:79126
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... OMIM:617478
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Secundum atr... OMIM:619534
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Short stature, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney di... OMIM:208500
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Gr... ORPHA:18
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... ORPHA:699
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Thrombocytop... OMIM:608013
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria ORPHA:2715
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... ORPHA:91500
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Hyperkalemia, Elevate... ORPHA:340
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... ORPHA:71212
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Grow... ORPHA:411629
Congenital Sialidosis Type 2
Hepatomegaly, Abnormality of the kidney, Edema, Abnormal heart morphology, Hepatosplenomegaly, As... ORPHA:93400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... OMIM:251000
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Cardiomegaly, Intr... OMIM:618838
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Lymphedema, Abnormality of the lymphatic system, Chyloper... ORPHA:538
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, In... OMIM:615710
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Short stature, Renal hypoplasia, Proteinuria ORPHA:1307
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Nephrotic syndrom... OMIM:617713
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Pancytopenia, Proteinuria, Abnormal heart valve morphol... ORPHA:77261
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ... ORPHA:77297
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... ORPHA:79240
Poems Syndrome
Edema, Pericardial effusion, Lymphadenopathy, Increased circulating antibody level, Thrombocytosi... ORPHA:2905
Marburg Hemorrhagic Fever
Reticulocytosis, Renal insufficiency, Pericarditis, Lymphopenia, Elevated circulating creatine ki... ORPHA:99826
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericar... ORPHA:358
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Pleural effusion... ORPHA:330001
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Elevated circulating C-reactive protein concentration, Stage ... OMIM:615559
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Elevated circulating creatine kinase concentration, Asplenia,... OMIM:185070
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin secretion, Cholecystitis, Increa... ORPHA:69665
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin ... OMIM:619127
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Renal hypoplasia, P... OMIM:269860
Melas
Hypoparathyroidism, Proteinuria, Short stature, Dilated cardiomyopathy, Concentric hypertrophic c... ORPHA:550
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Hydroureter, Vesicoureteral reflux, Nephrolithiasis OMIM:617219
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Multiple bladder diverticula, Recurrent otitis media, ... ORPHA:2728
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Galloway-Mowat Syndrome
Short stature, Proteinuria, Nephropathy, Nephrotic syndrome, Intrauterine growth retardation ORPHA:2065
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma OMIM:194072
Microscopic Polyangiitis
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... ORPHA:727
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... ORPHA:139402
Ovarian Fibrothecoma
Ovarian fibroma, Peritonitis, Pleural effusion, Ascites, Abnormality of the ovary ORPHA:314478
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria OMIM:617671
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, Glycosuria, H... ORPHA:263455
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocyto... ORPHA:14
Alagille Syndrome 1
Duplicated collecting system, Atrial septal defect, Hypertriglyceridemia, Ventricular septal defe... OMIM:118450
Fabry Disease
Renal insufficiency, Proteinuria, Lymphedema, Ventricular septal hypertrophy, Urinary mulberry ce... OMIM:301500
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Periorbital edema, Growth delay, Hypoplasia of the thymus, Multiple bladder div... OMIM:613177
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Pancytopenia, Short stature, Portal hypertension, Cholestasis... OMIM:613658
Malignant Peritoneal Mesothelioma
Peritonitis, Ascites, Pedal edema ORPHA:168811
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Short stature OMIM:247410
Ddost-Cdg
Short stature, Nephrotic range proteinuria ORPHA:300536
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... ORPHA:556037
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Decreased serum cre... OMIM:618885
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Farber Disease
Short stature, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Hydrops fetalis... ORPHA:333
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopat... OMIM:619051
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Dilated cardiomyopathy, Growth delay, Anemia, Decreased serum zinc, Hypoalb... ORPHA:89842
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Severe ... ORPHA:2237
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... ORPHA:64739
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Hyperuricemia, Hypoph... ORPHA:469
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis OMIM:602152
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria OMIM:619685
Perlman Syndrome
Nephrogenic rest, Renal hamartoma, Edema, Polyhydramnios, Cryptorchidism, Nephroblastomatosis, Pa... OMIM:267000
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Short stature, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Hyperuricem... OMIM:300661
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Predominantly lower limb lymphedema, ... ORPHA:2035
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Short stature, Proteinuria, Thyroiditis, Hyperlipidemia, Stage 5 chronic ki... ORPHA:79259
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97282
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H... OMIM:251900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97278
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... ORPHA:99827
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Short stature, Erythroderma ORPHA:313
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the kidney, Abnormal renal cortex morphology, Abnormal heart morphology, Abnormali... ORPHA:464321
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... ORPHA:556030
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Eisenmenger Syndrome
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Elevated circulating C-reactive pro... ORPHA:97214
Smith-Lemli-Opitz Syndrome
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat... OMIM:270400
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Leukopenia... ORPHA:974
Meningococcal Meningitis
Skin rash, Renal insufficiency, Infectious encephalitis, Elevated circulating C-reactive protein ... ORPHA:33475
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97261
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Microphthalmia, Syndromic 9
Renal malrotation, Severe short stature, Short stature, Ventricular septal defect, Cryptorchidism... OMIM:601186
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Fanconi Anemia, Complementation Group O
Hydronephrosis, Short stature, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly OMIM:619064
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cardiomegaly, Oligosacchariduria ORPHA:3137
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Dehyd... OMIM:619377
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease OMIM:613819
Hereditary Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... ORPHA:30
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97283
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Pancreatitis, Abnormal renal tubule mor... ORPHA:188
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbil... ORPHA:79303
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Short stature, Polyhydramnios, Increased nuchal translucency, Growt... ORPHA:1052
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... ORPHA:423
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,... ORPHA:391641
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... ORPHA:556
Reynolds Syndrome
Hepatomegaly, Jaundice, Xerostomia, Cirrhosis, Ascites ORPHA:779
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Short stature, Renal hypoplasia, Renal dysplasia ORPHA:85321
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... OMIM:619743
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Babesiosis
Renal insufficiency ORPHA:108
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Nonimmune hydrops fetalis, Ureteral agenesis, Bil... OMIM:617667
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Short stature, Hepatitis, Severe postnatal growth retardation, Abnormal rena... ORPHA:440713
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitin... ORPHA:391428
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Ascites, Mitral valve prolapse ORPHA:2848
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Ohdo Syndrome
Short stature, Proteinuria OMIM:249620
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Ventricular sept... OMIM:614921
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... ORPHA:761
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Spondyloenchondrodysplasia
Proteinuria, Short stature, Pneumonia, Skin rash, Chronic kidney disease, Disproportionate short-... ORPHA:1855
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... OMIM:232300
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Growth delay, Nephrocalcinosis, 3-Methylglutaconic aciduria ORPHA:445038
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Cryptorchidism, Thr... OMIM:617053
Nail-Patella Syndrome
Renal insufficiency, Short stature, Glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:161200
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Acute kidney injury ORPHA:140896
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Fabry Disease
Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Proteinuria, Short stature,... ORPHA:324
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... OMIM:309000
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... ORPHA:79473
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Cardiomy... ORPHA:79086
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97280
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Acute Intermittent Porphyria
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr... ORPHA:79276
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... ORPHA:900
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hematuria, Renal corticomedu... OMIM:243910
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Aciduria, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice, 3-Met... OMIM:203700
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil... OMIM:613027
Mogs-Cdg
Decreased circulating IgG level, Hepatomegaly, Generalized edema, Pulmonary edema, Edema, Cardiom... ORPHA:79330
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Abnormal blood ion concentration, Oliguria, Hypop... ORPHA:31824
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Infectious encephalitis ORPHA:83317
Argininemia
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ... OMIM:207800
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete... ORPHA:261265
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, R... OMIM:613159
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... ORPHA:449427
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card... OMIM:266500
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, In... ORPHA:465508
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... ORPHA:2552
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... ORPHA:79282
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Aspira... ORPHA:1018
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Growth delay, Hypoalbuminemia, Anemia, Decreased circulating antibody level ORPHA:79396
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Bardet-Biedl Syndrome 9
Renal insufficiency OMIM:615986
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... ORPHA:95409
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Martin-Probst Syndrome
Renal insufficiency, Short stature, Proteinuria, Chordee, Micropenis OMIM:300519
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Short stature, Nephronophthisis OMIM:615630
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Short stature, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronod... OMIM:256810
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Juvenile Polyposis Of Infancy
Refractory anemia, Short stature, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defec... ORPHA:79076
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... OMIM:616878
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Pancytopenia, Short stature, Proteinuria, Elevated circ... ORPHA:355
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis OMIM:614582
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Rhizomelia OMIM:618821
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Boutonneuse Fever
Skin rash, Renal insufficiency, Maculopapular exanthema ORPHA:83313
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Short stature, Splenomegaly, Micronodular cirrhosis, Ascites, Thrombocytopenia OMIM:301072
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... OMIM:619525
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Pulmonary ede... ORPHA:244242
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy... ORPHA:288
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Micropenis, ... OMIM:243800
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Rhizomelia, Short stature, Hypospadias, Postnatal growth retardation, Hemoly... OMIM:611209
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Impaired T cell function, Anisocytosis, Fola... OMIM:258900
Agel Amyloidosis
Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Cardiomyopathy, Blepharochalasis,... ORPHA:85448
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Growth delay ORPHA:1764
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ... ORPHA:536
Snakebite Envenomation
Hyponatremia, Acute kidney injury ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Familial Mediterranean Fever
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Stage... OMIM:249100
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites OMIM:620369
Lysinuric Protein Intolerance
Short stature, Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidne... OMIM:222700
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Edema, Cardiomegaly, Pericardial effusion, Polyhydram... ORPHA:51608
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... ORPHA:31826
Mercury Poisoning
Interstitial pneumonitis, Hypokalemia, Acute kidney injury ORPHA:330021
Castleman Disease
Hematuria, Renal insufficiency, Ureteral obstruction, Elevated circulating C-reactive protein con... ORPHA:160
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites, Intrauterine growth r... ORPHA:1556
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Renal Nutcracker Syndrome
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Yellow Fever
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac... ORPHA:99829
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... ORPHA:534
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Chronic kidney disease, Increased LDL cholest... ORPHA:330015
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... ORPHA:308552
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Short stature, Ventricular septal defect, Decreased response to growth hormone stim... OMIM:602782
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Micropenis, Proteinuria, Pancreatitis OMIM:619471
Lujo Hemorrhagic Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein ... ORPHA:319213
Shigellosis
Hyponatremia, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Abnorma... ORPHA:810
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Cardiomegaly, Pollakisuria, Muscular edema, R... ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Zygomycosis
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... ORPHA:73263
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Renal insufficiency, Micropenis, Short stature OMIM:617159
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia ORPHA:139411
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Congenital hypertrophy of ... OMIM:239850
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Chronic otitis media, Renal... ORPHA:261494
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Renal insufficiency, Oliguria ORPHA:220393
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy... OMIM:617022
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Short stature, Ectopic kidney, Ventricular septal defect, Cryptorchidis... OMIM:122470
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Hydrocele testis, Atrial septal defect, Ascites, Patent fo... OMIM:620244
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Ascites, Chylous
Chylous ascites OMIM:208300
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia,... ORPHA:544482
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Short stature, Delayed puberty OMIM:208060
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... ORPHA:533
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Cheilitis, Eosinophil... ORPHA:293173
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete... ORPHA:140952
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Leukocytosis, Cer... ORPHA:2331
Kleefstra Syndrome Due To 9Q34 Microdeletion
Growth delay, Renal insufficiency, Hypoplasia of penis, Vesicoureteral reflux ORPHA:96147
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Short stature... OMIM:301068
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Refsum Disease
Renal insufficiency ORPHA:773
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... OMIM:620306
Cockayne Syndrome
Neurogenic bladder, Severe short stature, Renal insufficiency, Urinary incontinence, Unilateral r... ORPHA:191
Arterial Calcification, Generalized, Of Infancy, 1
Short stature, Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets OMIM:208000
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis ORPHA:764
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Fucosidosis
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria,... OMIM:230000
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Short stature, Stage 5 chronic kidney disease OMIM:614378
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Short stature, Hypospadias, Rhizomelic leg shortening, Renal cortical cysts,... ORPHA:397715
Distal Deletion 10Q
Short stature, Postnatal growth retardation, Functional abnormality of the bladder, Horseshoe kid... ORPHA:96148
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Short stature, Ventricular septal defect, Cardiomegaly, Pericardial effusi... ORPHA:363705
Pseudo-Torch Syndrome 1
Renal insufficiency OMIM:251290
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hep... ORPHA:646
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Severe short stature, Recurrent pneumonia, Pyelonephritis, Ur... ORPHA:90349
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Short stature, Cardiomegaly OMIM:613320
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Short stature, Abnormality of the kidney ORPHA:459061
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Pmm2-Cdg
Pericarditis, Proteinuria, Elevated circulating growth hormone concentration, Lymphedema, Pericar... ORPHA:79318
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Palpebral edema, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, G... OMIM:252500
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Colitis, Inflammation of the large intestine OMIM:203300
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... OMIM:208540
Chondrodysplasia, Blomstrand Type
Fetal ascites, Hydrops fetalis, Polyhydramnios OMIM:215045
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hydrocele testis OMIM:620014
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency, Short stature OMIM:226980
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias... OMIM:130650
D-Bifunctional Protein Deficiency
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Renal cyst, Cholestasis, Bile duct pro... OMIM:261515
Giant Cell Arteritis
Hematuria, Arthritis, Renal insufficiency, Pericarditis ORPHA:397
Beckwith-Wiedemann Syndrome
Ureteral duplication, Polyhydramnios, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephro... ORPHA:116
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di... ORPHA:2041
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Ventricular septal defect, Abnormal pulmonary val... ORPHA:2162
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Aymé-Gripp Syndrome
Pericarditis, Proteinuria, Short stature, Postnatal growth retardation, Cryptorchidism, Pericardi... ORPHA:1272
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Urinary incontinence, Cardiomegaly OMIM:105210
Sepsis In Premature Infants
Reversible renal failure, Enterocolitis, Oliguria, Elevated circulating C-reactive protein concen... ORPHA:90051
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis OMIM:181270
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Splenomegaly, Seve... OMIM:216400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Hyperlipidemia, Stage 5 chronic kidney disease OMIM:608612
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Behçet Disease
Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi... ORPHA:117
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Severe short stature, Proteinuria, Postnatal growth retardatio... OMIM:133540
Chronic Graft Versus Host Disease
Pancytopenia, Phimosis, Urinary bladder inflammation, Xerostomia, Hematuria, Pleural effusion, As... ORPHA:99921
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram... ORPHA:439
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... ORPHA:289390
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Orofaciodigital Syndrome I
Short stature, Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hepatic fi... OMIM:311200
Coccidioidomycosis
Renal insufficiency, Pericarditis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Skin rash... ORPHA:228123
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Postnatal gr... OMIM:620305
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Mild postnatal growth retardation, Hydroureter, Unilater... ORPHA:90324
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Hydronephrosis ORPHA:35687
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Adenoiditis, Recurr... ORPHA:581
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Cryptorchidi... ORPHA:96191
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis ORPHA:2750
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Parot... OMIM:256040
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Postnatal growth retardation, Bronchiectasis, Pyelonephritis, Bladder ... ORPHA:90348
Niemann-Pick Disease, Type C2
Hepatomegaly, Bone-marrow foam cells, Polyhydramnios, Fetal ascites, Splenomegaly, Jaundice, Sea-... OMIM:607625
Niemann-Pick Disease, Type C1
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Stevens-Johnson Syndrome
Renal insufficiency, Dysuria, Abnormality of the urethra, Conjunctivitis, Pancreatitis ORPHA:36426
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease OMIM:267010
Cranioectodermal Dysplasia 1
Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubu... OMIM:218330
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease ORPHA:25
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Conjunctivitis, Pancreatitis ORPHA:537
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C... ORPHA:3261
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Myocarditis, Increa... ORPHA:466677
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... OMIM:614527
Waldenström Macroglobulinemia
Renal insufficiency ORPHA:33226
Cranioectodermal Dysplasia 2
Renal insufficiency, Rhizomelia, Short stature, Cholangitis, Recurrent pneumonia, Renal cyst, Hyp... OMIM:613610
Cranioectodermal Dysplasia 3
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Oligohydramnios, Cardiomyopathy, Cardiomegaly ORPHA:158687
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... ORPHA:365
Leptospirosis
Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... ORPHA:509
Truncus Arteriosus
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnorm... ORPHA:3384
Bohring-Opitz Syndrome
Short stature, Cardiomegaly, Annular pancreas, Abnormal cardiac septum morphology, Urinary retent... ORPHA:97297
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Short stature, Hypospadias, Renal insufficiency,... ORPHA:84
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Rhizomelia, Short stature, Cardiomegaly, Mitral valve prolapse, Atrial sep... OMIM:245600
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Rhizomelia, Short stature, Cholangitis, Stage 5 chronic kidney disease, Ren... OMIM:266920
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Pulmonary ... ORPHA:137675
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Short stature, Hypercalcemia, Abnormal r... OMIM:194050
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Prostatitis, Abnormality of the kidney, Cholangitis ORPHA:449432
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Sarcoidosis
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Erythema nodosum, Nephrolithiasis, H... ORPHA:797
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Peripheral edema, Right ventricular hypertrophy, Abnormality of the h... ORPHA:1677
Hermansky-Pudlak Syndrome
Renal insufficiency ORPHA:79430
Yunis-Varon Syndrome
Hypospadias, Short stature, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation... ORPHA:3472
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Short stature, Acne, Unilateral renal agenesis, Seborrheic ... OMIM:188400
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Absence Of The Pulmonary Artery
Cardiomegaly, Pedal edema, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morph... ORPHA:980
Aicardi-Goutières Syndrome
Short stature, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic ly... ORPHA:51
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Au-Kline Syndrome
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis OMIM:616580
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria OMIM:124000
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... ORPHA:227990
Degcags Syndrome
Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplasia, Abnormal r... OMIM:619488
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Abnormality of the kidney, ... ORPHA:857
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... ORPHA:227982
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Hypospadias, Renal insufficienc... ORPHA:199
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... ORPHA:90340
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Acute Liver Failure
Acute kidney injury, Skin rash, Hepatitis, Hyperammonemia ORPHA:90062
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Hypocalcemia, Micropenis, P... OMIM:619503
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the kidney, Polyhydramnios, Fetal ascites, Abnormality ... ORPHA:141127
Costello Syndrome
Renal insufficiency, Short stature OMIM:218040
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
African Trypanosomiasis
Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Myocarditis, Optic neuritis, ... ORPHA:3385
Floating-Harbor Syndrome
Hypospadias, Short stature, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidne... ORPHA:2044
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Chronic kidney disease, Growth delay, Septic arthritis, Recurrent aspir... ORPHA:642
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema, Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca ORPHA:79078
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Otitis media, Micropenis, Short stat... ORPHA:64
Faundes-Banka Syndrome
Cryptorchidism, Intrauterine growth retardation, Fetal ascites, Delayed puberty OMIM:619376
Singleton-Merten Syndrome 1
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Pleural effu... OMIM:182250

Histopathology

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

There is no histopathology data for Cd2ap

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cd2ap.

No publications found that use IMPC mice or data for Cd2ap.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cd2apem1(IMPC)Bay Exon Deletion Mice
Cd2aptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cd2aptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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