Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hemopexin
Synonyms:
hx,  Hpxn

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Hpx 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy, Hyperprolinemia ORPHA:419
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Renal insufficiency, Myoglobinuria OMIM:261670
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Renal insufficiency... OMIM:612933
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne... OMIM:608709
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Ami... OMIM:603358
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Hemoglobinuria OMIM:194380
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Renal insufficiency, Proteinuria, Decreased HDL cholesterol concentration OMIM:245900
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Dark urine, Myoglobinuria OMIM:232600
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy ORPHA:2668
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Hemoglobinuria OMIM:300908
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Renal insufficiency... ORPHA:2364
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Increas... ORPHA:94088
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Amyloidosis, Familial Visceral
Hematuria, Proteinuria, Nephropathy, Nephrotic syndrome OMIM:105200
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyponatremia, Hemoglo... ORPHA:90038
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Renal insufficiency, Nephritis OMIM:162000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc... OMIM:256300
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Glomerulonephritis, Glomerular baseme... OMIM:104200
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Hemoglobinuria ORPHA:447
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:616730
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Lcat Deficiency
Hypertriglyceridemia, Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Proteinuria ORPHA:54057
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy ORPHA:225
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Chronic kidney disease, Abnor... ORPHA:275555
Dent Disease
Renal insufficiency, Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperp... ORPHA:1652
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Abnormal localization of kidney ORPHA:446
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Galactosemia I
Increased level of galactitol in red blood cells, Albuminuria, Increased level of galactitol in p... OMIM:230400
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic... OMIM:613845
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the ... ORPHA:261222
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Re... OMIM:613388
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia OMIM:300323
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:618347
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney... OMIM:617575
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Recurrent myoglobinuria, Highly elevated creatine kinase, Chroni... ORPHA:368
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypophosphatemic ric... OMIM:300554
Cystinuria
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia ORPHA:214
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal urinary color, Myoglobinuria ORPHA:98895
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:1192
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia, Acute kidney injury, Myoglobinuria ORPHA:57
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro... OMIM:618348
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:613313
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Renal Fanconi ... ORPHA:53693
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Pierson Syndrome
Hypoproteinemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis,... OMIM:609049
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Cystinosis
Hypophosphatemia, Aminoaciduria, Nephropathy, Hypokalemia, Renal insufficiency, Renal tubular dys... ORPHA:213
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperox... OMIM:167030
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:119
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Hypercalcemia, Proteinuria OMIM:171420
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Elevated creatine kinase after exercise, Hypercalcemia, Chronic kidney disea... ORPHA:284426
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Wilson Disease
Hyperphosphaturia, Proteinuria, Aminoaciduria, Glycosuria, Hypercalciuria, Renal tubular dysfunct... OMIM:277900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Hyperlipidemia, Proteinuria ORPHA:369
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbuminemia, Nephrotic synd... ORPHA:255249
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Elevated circulating creatinine concentration, ... ORPHA:93126
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Hyperbilirubinemia, Myoglobinuria ORPHA:713
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Glycosuria, Renal tubula... OMIM:210550
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Hypomethioninemia, Methylmal... OMIM:277400
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria OMIM:618886
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia OMIM:232800
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Elevated... OMIM:137920
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Ebola Hemorrhagic Fever
Renal insufficiency, Proteinuria ORPHA:319218
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic k... ORPHA:439232
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Decreased plasma total carnitine, Decreased plasma free carnitine, Elevated circ... ORPHA:228305
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Glomerular sclerosis, Recurrent myoglobinuria... OMIM:607426
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:330001
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Macrosc... ORPHA:251004
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Hy... ORPHA:567546
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal Fanconi syndrome, Am... ORPHA:411629
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... OMIM:220110
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... ORPHA:436271
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:255125
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Glycosuria, Abnormal circulating fatty-acid concentration, Renal Fancon... ORPHA:263455
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Oliguria, Abnormal tubulointerstitial morpholo... ORPHA:340
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:91138
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232200
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Pheochromocytoma
Elevated urinary norepinephrine, Hypercalcemia, Renal artery stenosis, Proteinuria OMIM:171300
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Hyperuricemia, Decreased glomerular filtration rat... OMIM:232240
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232220
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney disease, Nephr... ORPHA:488627
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Dark urine, Nephrotic syndrome, Renal insufficiency... ORPHA:93552
Al Amyloidosis
Albuminuria, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Nephrotic syndrome, ... ORPHA:85443
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Hyperkalemia, Hyperp... ORPHA:423
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Microscopic hematur... ORPHA:1830
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:242900
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Hypoalbuminemia, Neph... OMIM:617303
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:86818
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffus... OMIM:617729
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Dicarboxylic aciduria, Elevated circulating creatine kinase concentra... OMIM:201475
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Mild proteinuria, Increased serum pyruvate, Hyperalaninemia, Hypospadias, Renal insufficiency OMIM:619147
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Abnormal circulating acetylcarnitine concentration, Mildly elevated c... ORPHA:71212
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyponatremia, Elevated circulating creatine kin... ORPHA:94093
Yellow Fever
Renal insufficiency, Proteinuria, Nephropathy, Oliguria ORPHA:99829
Legionnaires Disease
Renal insufficiency, Hyponatremia, Hematuria, Proteinuria ORPHA:549
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2715
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Glomerulopathy, Tubulointerstitial nephritis, Renal duplicati... ORPHA:33001
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:36412
Galloway-Mowat Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:2065
Fabry Disease
Lipiduria, Renal insufficiency, Urinary mulberry cells, Proteinuria OMIM:301500
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Hypocholesterolemia, Renal cyst, Hypoalbuminemia, Nephrotic syndrome, Prote... OMIM:212065
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circulating acylcarn... OMIM:609015
Cystinosis, Nephropathic
Decreased plasma carnitine, Generalized aminoaciduria, Hypophosphatemic rickets, Hyponatremia, Po... OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Focal segmental glomerulosclerosis, Renal tubular atrophy, Decreased glomerular filtration rate, ... OMIM:614748
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Ohdo Syndrome
Proteinuria OMIM:249620
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cyst, Renal insufficiency, Nephritis... OMIM:208500
Systemic Sclerosis
Acute kidney injury, Albuminuria, Glomerulonephritis, Chronic kidney disease, Elevated circulatin... ORPHA:90291
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Tubulointerstitial nephritis, Renal insufficiency, Proteinuria ORPHA:183
Malakoplakia
Dysuria, Hematuria, Urinary hesitancy, Urinary bladder inflammation, Urinary urgency, Proteinuria ORPHA:556
Renal Nutcracker Syndrome
Microscopic hematuria, Hematuria, Renal artery stenosis, Proteinuria ORPHA:71273
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Majeed Syndrome
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:77297
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Hypoalbuminemia, Nephrotic syndrome, Urinary... ORPHA:505248
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria ORPHA:1018
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Dif... OMIM:251300
Nail-Patella Syndrome
Nephritis, Hematuria, Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nep... ORPHA:2614
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Renal insufficiency, Micropenis, Proteinuria, Chordee OMIM:300519
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Focal segmental glomerulosclerosis, Nocturia, Renal potassium wast... ORPHA:358
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating acylcarnitine concentration, Myoglobinuria, Elevated circulating ... OMIM:616878
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:206549
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Renal tubular acidosis, Hypertriglyceridemia, Myoglobinuria, Elevated circu... ORPHA:370
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Hyperphosphaturia, Proteinuria, ... OMIM:309000
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Proteinuria ORPHA:79086
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Low-molecular-weight proteinuria OMIM:222448
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormal circulating lipid concentration, Glycosuria, Abnormal circulating f... ORPHA:2298
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Renal tubular acidosis, Hypertriglyceridemia, Myoglobinuria, Elevated circu... ORPHA:264580
Lymphatic Filariasis
Urethral obstruction, Hematuria, Glomerulonephritis, Nephrotic syndrome, Abnormality of the kidne... ORPHA:2035
Fabry Disease
Abnormal renal tubule morphology, Hematuria, Abnormal circulating lipid concentration, Nephropath... ORPHA:324
Cockayne Syndrome Type 1
Renal insufficiency, Increased blood urea nitrogen, Proteinuria ORPHA:90321
Spondyloenchondrodysplasia
Hematuria, Chronic kidney disease, Proteinuria ORPHA:1855
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Elevated circulating long chain fatty acid concentration, Aminoaciduria, Hydronephro... OMIM:214100
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Lacticaciduria, Glycosuria, Hypokalemia, Hyperalaninemia, Renal c... ORPHA:699
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria ORPHA:85448
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Hyperuricemia, Hypertriglycer... ORPHA:79259
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Multiple renal cysts, Hematuria, Abnormal ... ORPHA:534
Cocaine Intoxication
Hematuria, Acute kidney injury, Glomerulonephritis, Tubulointerstitial nephritis, Elevated circul... ORPHA:90068
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Goodpasture Syndrome
Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Glomerulonephritis, Macrosco... OMIM:233450
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Elevated circul... ORPHA:91500
Beta-Thalassemia Intermedia
Elevated hepatic iron concentration, Proximal tubulopathy, Abnormality of iron homeostasis ORPHA:231222
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hyponatremia, Oliguria, D... ORPHA:544482
Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Hydronephrosis, Elevated circulating C-reactive protein concentration,... ORPHA:900
Melas
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis ORPHA:550
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Abnormality of the upper urinary tract, Renal tubula... ORPHA:99885
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypermethioninemia, Renal cortical microcysts, Hypoalbuminemia, ... OMIM:222470
Immunoglobulin A Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:761
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Ectopic kidney, R... OMIM:122470
Familial Mediterranean Fever
Nephrocalcinosis, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:342
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:465508
Relapsing Polychondritis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:728
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Hyper... ORPHA:191
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Holoprosencephaly
Abnormality of the urinary system, Hyponatremia, Proteinuria, Hypoplasia of penis ORPHA:2162
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Cockayne Syndrome A
Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Proteinuria, Focal segmental glomerulosclerosis OMIM:619127
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Gaucher Disease
Hematuria, Elevated circulating C-reactive protein concentration, Proteinuria ORPHA:355
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia, Abnormality of iron homeostasis ORPHA:84064
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Hematuria, Acute kidney injury, Abnormal penis morphology, Renal tubular epithelial necr... ORPHA:95455
Pmm2-Cdg
Abnormal renal tubule morphology, Multiple renal cysts, Nephrotic syndrome, Hypoalbuminemia, Redu... ORPHA:79318

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 Hpx

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 Hpx.

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

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MGI Allele Allele Type Produced
Hpxem1(IMPC)Ccpcz Exon Deletion Mice
Hpxtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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