Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
polypeptide N-acetylgalactosaminyltransferase 11
Synonyms:
A430075I06Rik,  E430002F06Rik

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 Galnt11 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 Galnt11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... OMIM:615573
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in plasma, Galactosuria, Increase... OMIM:230400
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental glo... OMIM:603278
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Hyperuri... ORPHA:94088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612926
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Abnormal circulating lipid concentration, Membranopro... OMIM:608709
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, ... ORPHA:839
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Hypoalbuminemia, Focal segment... OMIM:618349
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury OMIM:160010
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Elevated circulating creatinine concentration, Hemat... ORPHA:730
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... OMIM:619155
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine OMIM:232600
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617006
Dent Disease 2
Nephrocalcinosis, Hypercalciuria, Proximal tubulopathy, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypercholesterolemia, Proteinuria, Abnormal circulating lipid concen... ORPHA:567548
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... ORPHA:329918
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Acute kidney injury, Proteinuria, Decrease... ORPHA:650
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:616730
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hypercalcemia, Proteinuria ORPHA:2668
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Macroscopic hematuria, Chronic kidney disease, Albuminuria, Microscopic hematuria... ORPHA:567546
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... ORPHA:2364
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Increased ... OMIM:274150
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Hyperlipidemia, Glomerular sclerosis, Proteinuria, ... OMIM:256300
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
Azotemia, Familial
Azotemia OMIM:109160
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Hypoalbuminemia, Foamy urine, S... ORPHA:656
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Preeclampsia
Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Abnormality of t... ORPHA:275555
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobinuria, Acute kidney injury OMIM:268200
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, Myoglobinuria, Re... ORPHA:228302
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Hematuria, ... ORPHA:231111
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria... ORPHA:251004
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoph... OMIM:616026
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Hyperuricemia, Ve... ORPHA:261222
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Al Amyloidosis
Nephrotic syndrome, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits, ... ORPHA:85443
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Uremic Pruritus
Stage 5 chronic kidney disease, Hypercalcemia, Increased blood urea nitrogen, Chronic kidney dise... ORPHA:94059
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Proteinuria, Hyperuricosuria, Hypercalc... ORPHA:1652
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Hypoalbuminemia, Hypert... OMIM:617575
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, H... OMIM:613845
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria OMIM:618347
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:618348
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricosuria, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Hyperlipidemia, Proteinuria ORPHA:369
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... ORPHA:49041
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypercalciur... ORPHA:3337
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:375
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal urinary color, Myoglobinuria ORPHA:98895
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Renal Fanco... ORPHA:411634
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Systemic Sclerosis
Acute kidney injury, Proteinuria, Glomerulonephritis, Chronic kidney disease, Abnormality of the ... ORPHA:90291
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Aminoaciduria, Albuminuria, Hypospadias, Elevated circ... OMIM:214100
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia OMIM:232800
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Highly elevated creatine kinase, Chronic kidney disease, Elevated circulatin... ORPHA:368
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria OMIM:166300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Glomerulonephritis,... OMIM:614376
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pr... OMIM:619609
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria OMIM:215250
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hydronephrosis, Ren... OMIM:154230
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Nocturia, Elevated circulating creatinine concentration, Elevated ... ORPHA:230
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hematuria, Proteinuria, Elevated circulating C-reac... OMIM:614034
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:119
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Hypercalcemia, Proteinuria OMIM:171420
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insufficiency, Focal segme... ORPHA:347
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... OMIM:300554
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria,... ORPHA:439232
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Proteinuria, Decreased serum iron, Increased blood urea nitro... ORPHA:447
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Cystinosis
Hypokalemia, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropathy, Renal insufficie... ORPHA:213
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Glomerular sclerosis, Elevated circulating creatinine concentratio... OMIM:223900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury ORPHA:57
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Proteinuria, Acute kidney in... ORPHA:93126
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Recur... ORPHA:99845
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... OMIM:277900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated circulating acylcarnitine concentration, Myoglobinuria... ORPHA:228305
Growth Hormone Insensitivity Syndrome
Hypoplasia of penis, Hypercholesterolemia ORPHA:181393
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Moderate albuminuria, Renal tubular dysfunction, Abnormality of the upper urinary tra... ORPHA:99885
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Myoglobinuria, Renal insufficiency ORPHA:713
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Leigh Syndrome With Nephrotic Syndrome
Renal cyst, Renal tubular acidosis, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:157
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Hyperhomocystinemia, Homocystinuria, Methylmalonic aciduria, Hemolytic-uremic s... OMIM:277400
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Proteinuria, Conjugated hyperbi... OMIM:210550
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating ac... ORPHA:228308
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Xanthinuria, Type Ii
Renal insufficiency, Nephrolithiasis, Hypouricemia OMIM:603592
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Renal insufficiency, Proteinuria ORPHA:90321
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Hematuria, Hypercalcemia, Proteinuria, Elevated urinary dopamine, Elevated ... ORPHA:276621
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Thickened glomerular basement membrane, Abnormal renal physiology, Nephro... OMIM:308940
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Acute kidney injury, Chronic kidney disease, Elevated creatine kinase after exerci... ORPHA:284426
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria OMIM:618886
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Elevated circulating creatinine concentration,... OMIM:137920
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Renal Fanconi syndrome, Proteinuria, Hypophosphatemic rickets, Abnormal circulating f... ORPHA:263455
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalactosemia, H... ORPHA:247598
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Chro... OMIM:146255
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Membranous nephropathy, Hyperammonemia, Decreased... ORPHA:470
Glycogen Storage Disease Ic
Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hyperuricemia, Xant... OMIM:232240
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Increased level of galactitol in urin... ORPHA:79237
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Cystinuria
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia ORPHA:214
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:255125
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... OMIM:220110
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Elevated circulating creatine kinase concentration, Dicarboxylic acid... OMIM:201475
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Decreased plasma carnitine, Mildly elevated creatine kinase, Myoglobin... ORPHA:71212
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... ORPHA:436271
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Recurrent myoglobinuria, Glomerular sclerosis... OMIM:607426
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonaturia, Hyperuricosuria, Hype... ORPHA:47159
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Increased blood urea nitrogen, Glomerulonephritis, Ma... OMIM:233450
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration, Mild proteinuria OMIM:619685
Distal Renal Tubular Acidosis
Hypokalemia, Nephrocalcinosis, Hypermagnesiuria, Renal cyst, Nephrolithiasis, Hypocitraturia, Hyp... ORPHA:18
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperammonemia, Elevated circu... OMIM:609015
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal blood ion co... ORPHA:411629
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Wild Type Attr Amyloidosis
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:330001
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Renal Hypodysplasia/Aplasia 1
Renal agenesis, Renal dysplasia, Proteinuria OMIM:191830
Pheochromocytoma
Elevated urinary norepinephrine, Renal artery stenosis, Hypercalcemia, Proteinuria OMIM:171300
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Proteinuria, Microscopic hematuria, Nephropathy, Nephrotic range proteinuria, Sta... ORPHA:1830
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Cryoglobulinemic Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:91138
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Hypercalcemia, Proteinuria, Hematuria, Elevated urinary dopamine, Elevated ... ORPHA:29072
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Proteinuria, Bilateral renal agenesis, Ureteral agenes... ORPHA:411709
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase leve... OMIM:300908
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Mild proteinuria, Hyperalaninemia, Increased serum pyruvate, Renal insufficiency, Hypospadias OMIM:619147
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy, Hypoalbuminemia, Hypocholester... OMIM:212065
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Proteinuria, Renal tubular atrophy, Nephritis, Hypoalbuminem... OMIM:617303
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Enuresis, Acut... ORPHA:247585
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Hypercholesterolemia, Elevated circulating creatine kinase concentrat... ORPHA:64753
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Hematuria, Proteinuria, Nephritis, Abnormality of the urinary system, Dark ur... ORPHA:93552
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Proteinuria, Micropenis, Thickened glomerular basement membrane, Recurrent ... OMIM:619487
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:242900
Legionnaires Disease
Renal insufficiency, Hyponatremia, Hematuria, Proteinuria ORPHA:549
Laron Syndrome
Hypoplasia of penis, Hypercholesterolemia ORPHA:633
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminem... OMIM:617729
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cystinosis, Nephropathic
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyponatremia, Renal Fanconi syndrome, Nephrol... OMIM:219800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Tubulointerstitial nephrit... ORPHA:488627
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Elevated circulating creatinine concentration, Nephropathy, Proteinuria ORPHA:247691
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:36412
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Urinary incontinence,... ORPHA:94093
Fabry Disease
Renal insufficiency, Urinary mulberry cells, Lipiduria, Proteinuria OMIM:301500
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Smith-Magenis Syndrome
Abnormal renal morphology, Abnormality of the urinary system, Hypertriglyceridemia, Hypercholeste... OMIM:182290
Ohdo Syndrome
Proteinuria OMIM:249620
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria, Hypercholesterolemia OMIM:619471
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Hemoglobinuria OMIM:194380
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hypercholesterolemia, Myoglobinuria, Elevated circulating creatine kinase... ORPHA:79240
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
Lymphedema-Distichiasis Syndrome
Renal duplication, Proteinuria, Tubulointerstitial nephritis, Glomerulopathy, Recurrent urinary t... ORPHA:33001
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:2715
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hypercholesterolemia, Myoglobinuria, Elevated circulating creatine kinase... ORPHA:370
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Hypercholesterolemia, Proteinuria, Bicarbonaturia, Hyperphosphaturia, Ele... OMIM:309000
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:86818
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Myoglobinuria, Elevated circulating creatine ki... OMIM:616878
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Proteinuria, Abnormality of the kidney, Nephritis... ORPHA:91139
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia, Proteinuria ORPHA:79086
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria ORPHA:2728
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hypercholesterolemia, Myoglobinuria, Elevated circulating creatine kinase... ORPHA:264580
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:77297
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Hyperp... ORPHA:423
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albuminuria OMIM:619525
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Malakoplakia
Urinary bladder inflammation, Hematuria, Proteinuria, Dysuria, Urinary hesitancy, Urinary urgency ORPHA:556
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hema... ORPHA:340
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Hyperlipidemia, Nephrolithiasis, Hypercholesterolemia, Protein... ORPHA:79259
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Xfe Progeroid Syndrome
Renal insufficiency, Hypoalbuminemia, Proteinuria OMIM:610965
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Proteinuria, Urinary glycosaminoglycan excretion, Heavy prot... ORPHA:505248
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia ORPHA:401923
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Proteinuria, Tubulointerstitial nephritis, Glomerulopathy, Renal insufficiency ORPHA:183
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Elevated circulating creatine kinase concentration, Myoglobinuria ORPHA:206549
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Renal insufficienc... OMIM:251300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute kidney injury, An... ORPHA:90038
Renal Nutcracker Syndrome
Renal artery stenosis, Microscopic hematuria, Hematuria, Proteinuria ORPHA:71273
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Proteinuria, Chronic kidney disease, Conjugated hyperbilirubinemia, Nephritis, Renal ... OMIM:208500
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Renal insufficiency OMIM:161200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Hematuria, Acute kidney injury, Dysuria, Abnormal penis morphology, Renal t... ORPHA:95455
Insulin-Resistance Syndrome Type B
Glycosuria, Proteinuria, Abnormal circulating lipid concentration, Hypotriglyceridemia, Nephritis... ORPHA:2298
Gitelman Syndrome
Hypokalemia, Renal tubular acidosis, Renal Fanconi syndrome, Decreased urinary potassium, Protein... ORPHA:358
Martin-Probst Syndrome
Micropenis, Renal insufficiency, Chordee, Proteinuria OMIM:300519
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Proteinuria, Chronic kidney disease, Nephropathy, Stage 5 chronic kidney disease ORPHA:1018
Dysbetalipoproteinemia
Hypercholesterolemia, Renal steatosis, Xanthelasma, Hypertriglyceridemia, Increased LDL cholester... ORPHA:412
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Hypokalemia, Nephrocalcinosis, Hyponatremia, Nephrolithiasis, H... ORPHA:534
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Abnormality of the kidney, Thickened glomerular basem... ORPHA:2614
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria ORPHA:1855
Smith-Magenis Syndrome
Abnormality of the ureter, Hypercholesterolemia, Abnormal localization of kidney, Hypertriglyceri... ORPHA:819
Gaisböck Syndrome
Nephrocalcinosis, Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Hyperna... ORPHA:90041
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Renal tubular atrophy, Hyp... OMIM:614748
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Fabry Disease
Abnormal renal tubule morphology, Nephrotic syndrome, Hyperlipidemia, Hematuria, Proteinuria, Abn... ORPHA:324
Pierson Syndrome
Diffuse mesangial sclerosis, Hypoproteinemia, Nephrotic syndrome, Proteinuria, Hyperechogenic kid... OMIM:609049
Hellp Syndrome
Acute kidney injury, Hemoglobinuria, Proteinuria ORPHA:244242
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Lymphatic Filariasis
Nephrotic syndrome, Hematuria, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Urethr... ORPHA:2035
Pearson Syndrome
Glycosuria, Hypokalemia, Lacticaciduria, Renal cyst, Proteinuria, Hypocalcemia, Hypophosphatemia,... ORPHA:699
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Cocaine Intoxication
Hematuria, Acute kidney injury, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis, El... ORPHA:90068
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Elevated circulating creatinine concentration, ... ORPHA:91500
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria ORPHA:85448
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Postinfectious Vasculitis
Hematuria, Proteinuria, Glomerulonephritis, Elevated circulating C-reactive protein concentration... ORPHA:48435
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Melas
Proximal tubulopathy, Focal segmental glomerulosclerosis, Nephropathy, Proteinuria ORPHA:550
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Cornelia De Lange Syndrome 1
Ectopic kidney, Renal cyst, Reduced renal corticomedullary differentiation, Proteinuria, Renal hy... OMIM:122470
Immunoglobulin A Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:761
Granulomatosis With Polyangiitis
Ureteral stenosis, Hematuria, Proteinuria, Hydronephrosis, Elevated circulating C-reactive protei... ORPHA:900
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Renal salt wasting, Abnormal urine potassium co... ORPHA:275761
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Familial Mediterranean Fever
Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:342
Holoprosencephaly
Hyponatremia, Abnormality of the urinary system, Hypoplasia of penis, Proteinuria ORPHA:2162
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Hyponatremia, Decreased urine output, Acute kidney injury, Anuria, Hyperkalemia, Hypoca... ORPHA:544482
Cockayne Syndrome
Unilateral renal agenesis, Nephrotic syndrome, Proteinuria, Renal hypoplasia, Hyperuricemia, Abno... ORPHA:191
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria OMIM:619127
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Alagille Syndrome 1
Renal tubular acidosis, Multiple small medullary renal cysts, Hypercholesterolemia, Renal hypopla... OMIM:118450
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Relapsing Polychondritis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:728
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Proteinuria ORPHA:2750
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Gaucher Disease
Elevated circulating C-reactive protein concentration, Hematuria, Proteinuria ORPHA:355
Cockayne Syndrome B
Micropenis, Renal insufficiency, Proteinuria OMIM:133540
Cockayne Syndrome A
Micropenis, Renal insufficiency, Proteinuria OMIM:216400
Williams Syndrome
Nephrocalcinosis, Bladder diverticulum, Nephrolithiasis, Hypercalcemia, Proteinuria, Hypercalciur... ORPHA:904
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia ORPHA:90674
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Kawasaki Disease
Sterile pyuria, Proteinuria ORPHA:2331
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hematuria, Proteinuria ORPHA:99827
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Renal steatosis, R... ORPHA:391665
Lipodystrophy, Familial Partial, Type 7
Polyuria, Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Pmm2-Cdg
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Reduced thyro... 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 Galnt11

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 Galnt11.

No publications found that use IMPC mice or data for Galnt11.

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MGI Allele Allele Type Produced
Galnt11tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Galnt11tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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