Gene Summary

Name:
clusterin
Synonyms:
ApoJ,  testosterone repressed prostate message-2,  Sgp-2,  complement lysis inhibitor,  Sugp-2,  SP-40,  D14Ucla3,  Cli,  Apolipoprotein J,  Sgp2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased aggression Clutm1b(EUCOMM)Hmgu HOM Early adult 2.04×10-08
decreased fasting circulating glucose level Clutm1b(EUCOMM)Hmgu HOM   Early adult 7.85×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 100% (2 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Clu 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 Clu by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Proteinuria, Mesangial hypercellularity, Steroid-resistant neph... OMIM:619201
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Glomerular subendothelial electro... OMIM:609814
Hematuria, Benign Familial
Hematuria, Thin glomerular basement membrane OMIM:141200
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
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
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Focal segmental glomeruloscler... OMIM:618349
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Foamy urine, Stage 5 chronic ki... ORPHA:656
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Nail-Patella-Like Renal Disease
Renal insufficiency, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:2613
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pr... OMIM:619609
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormal glomerular mesangium morphology, G... ORPHA:567544
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cryofibrinogenemia, Familial Primary
Transient nephrotic syndrome, Hematuria OMIM:123540
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Abnormal glomerular visceral epith... ORPHA:567548
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Glomerular sclerosis, Congenital nephrotic syndrome, Proteinuria, Re... OMIM:256300
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Pedal edema, ... ORPHA:563
Hydroxyprolinemia
Microscopic hematuria OMIM:237000
American Trypanosomiasis
Achalasia, Arrhythmia, Congestive heart failure, Infectious encephalitis, Myocarditis, Periorbita... ORPHA:3386
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Acute kidney injury, P... ORPHA:329918
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:618348
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Stage 5 chronic kidney ... OMIM:617575
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Systemic Capillary Leak Syndrome
Arrhythmia, Myocarditis, Pleural effusion, Pancreatitis, Hypotension, Pedal edema, Pericarditis, ... ORPHA:188
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Nephropathy, Stage 5 chronic kid... OMIM:194080
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Rheumatic Fever
Sinusitis, Abnormal heart valve morphology, Arrhythmia, Arthritis, Abnormal mitral valve morpholo... ORPHA:3099
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:619603
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Nephrolithiasis, Hematuria, Renal insufficiency OMIM:614723
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Congenital Enterovirus Infection
Hydrops fetalis, Infectious encephalitis, Myocarditis, Pleural effusion, Hypotension, Polyhydramn... ORPHA:292
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
Antisynthetase Syndrome
Myositis, Aortic regurgitation, Myocarditis, Telangiectasia of the skin, Pulmonary arterial hyper... ORPHA:81
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Nephrolithiasis, Hematuria ORPHA:2196
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Proteinuria, Mesangial hypercell... ORPHA:63
Adult-Onset Still Disease
Myocarditis, Hepatitis, Pericarditis, Joint swelling, Arthritis, Skin rash ORPHA:829
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Drug Reaction With Eosinophilia And Systemic Symptoms
Cardiac arrest, Angioedema, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubul... ORPHA:139402
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria OMIM:120433
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion OMIM:602248
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Bladder Diverticulum
Solitary bladder diverticulum, Hematuria, Dysuria, Urethral sphincter sclerosis, Urinary hesitanc... OMIM:109820
Scrub Typhus
Infectious encephalitis, Hypotension, Myocarditis, Anterior uveitis, Skin rash ORPHA:83317
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myositis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, Conges... ORPHA:183
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency ORPHA:510
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Maculopapular exanthema, Myocarditis, Panc... ORPHA:31205
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal tubule morphology, Hematuria, Hyperuri... ORPHA:94088
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Dysuria, Macroscopic hematuria, Nephropathy, Renal insufficiency, Uric acid ... ORPHA:79233
Scleroderma
Interstitial cardiac fibrosis, Uveitis, Episcleritis, Gastrointestinal telangiectasia, Fasciitis,... ORPHA:801
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Increased u... ORPHA:3467
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Whipple Disease
Myositis, Uveitis, Gastrointestinal hemorrhage, Infectious encephalitis, Myocarditis, Hypotension... ORPHA:3452
Cystinuria
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria ORPHA:284400
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:375
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Pneumonia, Infectious encephalitis, Peritonitis, ... ORPHA:36234
Mixed Connective Tissue Disease
Myositis, Gastrointestinal hemorrhage, Gastritis, Myocarditis, Pulmonary arterial hypertension, K... ORPHA:809
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Myocarditis, Myocardial infarction, Pulmonar... ORPHA:464343
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Legionnaires Disease
Arrhythmia, Infectious encephalitis, Endocarditis, Myocarditis, Hypotension, Hepatitis, Pancreati... ORPHA:549
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria ORPHA:54057
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Q Fever
Abnormal heart valve morphology, Pneumonia, Abnormal left ventricular function, Infectious enceph... ORPHA:781
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios ORPHA:163596
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617729
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Wrist flexion contracture, Constrictive pericarditis, Congenital finger flexion contractures, Art... OMIM:208250
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Relapsing Polychondritis
Abnormal endocardium morphology, Chondritis of pinna, Uveitis, Arthritis, Inflammatory abnormalit... ORPHA:728
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Hypomagnesemia 3, Renal
Renal tubular acidosis, Nephrocalcinosis, Hypermagnesiuria, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Chro... OMIM:146255
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Pericarditis, Anterior uveitis, Joint swelling, Skin rash, Juvenile rheumatoid ... ORPHA:85414
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Colchicine Poisoning
Hypovolemia, Arrhythmia, Congestive heart failure, Cardiogenic shock, Hypotension, Myocarditis, D... ORPHA:31824
Systemic Sclerosis
Interstitial cardiac fibrosis, Raynaud phenomenon, Flexion contracture, Recurrent skin infections... ORPHA:90291
Lujo Hemorrhagic Fever
Cerebral edema, Subconjunctival hemorrhage, Shock, Maculopapular exanthema, Myocarditis, Hypotens... ORPHA:319213
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Dysuria, Decreased glomerular filtration rate, Enur... ORPHA:93598
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Acute kidney injury, Proteinuria, Decreased glomerular filtration rate, Glo... ORPHA:93126
Yao Syndrome
Arthritis, Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Ventricular hypertro... OMIM:617321
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Thickened glomerular basement membrane, Abnormal renal physiology, Nephro... OMIM:308940
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria ORPHA:1473
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612926
Shigellosis
Hypovolemic shock, Rhabdomyolysis, Uveitis, Pneumonia, Arthritis, Peritonitis, Myocarditis, Acute... ORPHA:810
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Microsporidiosis
Sinusitis, Myositis, Pneumonia, Lymphadenitis, Cholangitis, Infectious encephalitis, Peritonitis,... ORPHA:2552
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epineph... ORPHA:276621
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria, Stage 5 chroni... ORPHA:567546
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:251300
Thymic Tumor
Edema, Cardiac arrest, Palpebral edema, Pericarditis ORPHA:100100
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:35710
Zygomycosis
Gastrointestinal hemorrhage, Hematemesis, Hepatitis, Pancreatitis, Fasciitis, Acute infectious pn... ORPHA:73263
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Scorpion Envenomation
Acute pancreatitis, Rhabdomyolysis, Premature ventricular contraction, Arrhythmia, Congestive hea... ORPHA:466677
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure,... ORPHA:3342
Von Hippel-Lindau Disease
Abnormal left ventricular function, Arrhythmia, Myocarditis, Myocardial infarction, Palpitations,... ORPHA:892
Dermatomyositis
Inflammatory myopathy, Sinus tachycardia, Arrhythmia, Myocarditis, Myocardial infarction, Telangi... ORPHA:221
Listeriosis
Rhabdomyolysis, Pyelonephritis, Pneumonia, Congestive heart failure, Infectious encephalitis, Cho... ORPHA:533
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Brucellosis
Pneumonia, Hip osteoarthritis, Arthritis, Knee osteoarthritis, Infectious encephalitis, Orchitis,... ORPHA:1304
Rhabdoid Tumor
Renal neoplasm, Hematuria ORPHA:69077
Glanzmann Thrombasthenia
Macroscopic hematuria ORPHA:849
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Hypertension, Pericarditis ORPHA:767
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Epididymitis, Hypertension, Hematemesis, Ascites... ORPHA:99827
Pierson Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hyperechogenic kidneys, Stage 5 chr... OMIM:609049
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Nephroblastoma
Nephroblastoma, Hematuria ORPHA:654
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insufficiency, Focal segme... ORPHA:347
Non-Functioning Paraganglioma
Elevated urinary norepinephrine, Elevated urinary dopamine, Hematuria, Elevated urinary epinephrine ORPHA:94080
Blau Syndrome
Uveitis, Camptodactyly of finger, Iritis, Erythema nodosum, Cystoid macular edema, Eczema, Synovi... OMIM:186580
Cryoglobulinemic Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:91138
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epineph... ORPHA:29072
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Myocarditis, Acute colitis, Hypertensive crisis, Hypertension, Pancreatitis, Septic ar... ORPHA:544482
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Glycogen Storage Disease Ic
Hematuria, Proteinuria, Decreased glomerular filtration rate, Renal insufficiency, Focal segmenta... OMIM:232240
Hereditary Mucoepithelial Dysplasia
Abnormality of the bladder, Hematuria ORPHA:1839
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Arthri... ORPHA:732
Drug-Induced Lupus Erythematosus
Malar rash, Pericarditis, Serositis, Pericardial effusion, Prolonged QTc interval ORPHA:231111
Nephronophthisis 4
Stage 5 chronic kidney disease, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Ren... OMIM:606966
Heme Oxygenase 1 Deficiency
Nephritis, Hematuria, Proteinuria OMIM:614034
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydronephrosis, He... ORPHA:49041
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Hematuria, Renal duplication, Hydronephrosis, Ureterocele, Renal dy... ORPHA:79403
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Primary Hyperoxaluria
Aciduria, Nephrocalcinosis, Hematuria, Hypercalciuria, Chronic kidney disease, Elevated urine gly... ORPHA:416
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Simple Cryoglobulinemia
Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Abnormality of the kidney, Nephritis... ORPHA:91139
Scedosporiosis
Sinusitis, Pneumonia, Arthralgia/arthritis, Osteomyelitis, Endocarditis, Septic arthritis, Perica... ORPHA:449280
Hemophilia B
Hematuria ORPHA:98879
Schimke Immuno-Osseous Dysplasia
Proteinuria, Microscopic hematuria, Nephropathy, Nephrotic range proteinuria, Stage 5 chronic kid... ORPHA:1830
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:36412
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hematuria, Renal insufficiency, Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:259900
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Renal insufficiency OMIM:161200
Microscopic Polyangiitis
Sinusitis, Uveitis, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Arthritis,... ORPHA:727
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Hematuria, Proteinuria, Nephritis, Abnormality of the urinary system, Dark ur... ORPHA:93552
Ruvalcaba Syndrome
Abnormal localization of kidney, Hematuria ORPHA:3121
Orotic Aciduria
Oroticaciduria, Orotic acid crystalluria, Hematuria OMIM:258900
Congenital Alpha2-Antiplasmin Deficiency
Hematuria ORPHA:79
Renal Nutcracker Syndrome
Renal artery stenosis, Microscopic hematuria, Hematuria, Proteinuria ORPHA:71273
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Homocystinuria, Methylmalonic aciduria, Hematuria, Hemolytic-uremic syndrome, P... OMIM:277400
Klippel-Trénaunay Syndrome
Hematuria ORPHA:90308
Kikuchi-Fujimoto Disease
Vasculitis in the skin, Myocarditis, Palpebral edema, Pleural effusion, Malar rash, Vasculitis, P... ORPHA:50918
Lymphatic Filariasis
Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Urethr... ORPHA:2035
Relapsing Fever
Abnormality of the urinary system, Hematuria, Acute kidney injury ORPHA:91547
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:86818
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria OMIM:274150
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure, Pleural eff... ORPHA:67
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Abnormal ureter morphology, Hematuria, Proteinuria... ORPHA:449395
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Juvenile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Proteinuria, Proximal tubulopathy, Chronic kidney disease, Lo... ORPHA:411634
Congenital Factor V Deficiency
Hematuria ORPHA:326
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria ORPHA:853
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Combined Deficiency Of Factor V And Factor Viii
Hematuria ORPHA:35909
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Abnormal myocardium morphology, Erysipelas, Myositis, Uveitis, Arthritis, Orchitis, Peritonitis, ... ORPHA:32960
Felty Syndrome
Sinusitis, Recurrent pneumonia, Episcleritis, Rhinitis, Synovitis, Chronic otitis media, Pericard... ORPHA:47612
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:77297
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Urachal Cyst
Dysuria, Pyuria, Urachus fistula, Hematuria ORPHA:488
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Renal insufficiency, Renal tubular ... ORPHA:31826
Juvenile Dermatomyositis
Myositis, Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Bundle branch block, ... ORPHA:93672
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Hematuria, Acute kidney injury, Proteinuria, Decrea... ORPHA:340
Malakoplakia
Urinary bladder inflammation, Hematuria, Proteinuria, Dysuria, Urinary hesitancy, Urinary urgency ORPHA:556
Congenital Factor Ii Deficiency
Microscopic hematuria ORPHA:325
Sickle Cell Anemia
Hematuria, Renal insufficiency OMIM:603903
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Portal hypertension, Chilblains, Lower limb hypertonia, Edema, Hypertension, ... OMIM:619487
X-Linked Lymphoproliferative Disease
Colitis, Myocarditis, Inflammation of the large intestine, Vasculitis, Nephritis, Fulminant hepat... ORPHA:2442
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
African Trypanosomiasis
Optic neuritis, Second degree atrioventricular block, Iritis, Arrhythmia, Congestive heart failur... ORPHA:3385
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Abnormality of the kidney, Thickened glomerular basem... ORPHA:2614
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Proteinuria, Chronic kidney disease, Nephropathy, Stage 5 chronic kidney disease ORPHA:1018
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Behçet Disease
Optic neuritis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Pancreatitis, Mitral ... ORPHA:117
Familial Mediterranean Fever
Erysipelas, Arrhythmia, Arthritis, Orchitis, Peritonitis, Pancreatitis, Osteoarthritis, Myocardia... ORPHA:342
Reactive Arthritis
Aortic regurgitation, Arthritis, Recurrent aphthous stomatitis, Inflammation of the large intesti... ORPHA:29207
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Hematuria ORPHA:1334
Cocaine Intoxication
Hematuria, Acute kidney injury, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis ORPHA:90068
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria ORPHA:1855
Castleman Disease
Ureteral obstruction, Hematuria, Renal insufficiency ORPHA:160
Aapoaiv Amyloidosis
Glomerular sclerosis, Proteinuria, Abnormal renal medulla morphology, Chronic kidney disease, Ren... ORPHA:439232
Moderate Hemophilia A
Hematuria ORPHA:169805
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Glomerulonephritis, Macroscopic hematuria, Cylindruri... OMIM:233450
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Immunoglobulin A Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:761
Cystinosis, Nephropathic
Glycosuria, Generalized aminoaciduria, Renal Fanconi syndrome, Nephrolithiasis, Proteinuria, Poly... OMIM:219800
Acute Promyelocytic Leukemia
Hematuria ORPHA:520
Giant Cell Arteritis
Hematuria, Renal insufficiency ORPHA:397
Lymphangioleiomyomatosis
Renal angiomyolipoma, Renal neoplasm, Abnormal urinary color, Hematuria, Multiple renal cysts ORPHA:538
Severe Hemophilia A
Macroscopic hematuria ORPHA:169802
Mucoepithelial Dysplasia, Hereditary
Hematuria OMIM:158310
Bernard-Soulier Syndrome
Macroscopic hematuria, Partially duplicated kidney ORPHA:274
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Hydrops fetalis, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Glomerulonephritis, Hematuria, Proteinuria ORPHA:48435
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Pleural effusion, Pericarditis, Arthritis OMIM:249100
Acquired Von Willebrand Syndrome
Hematuria ORPHA:99147
Nocardiosis
Abnormal heart valve morphology, Pneumonia, Lymphadenitis, Cutaneous abscess, Infectious encephal... ORPHA:31204
Congenital Factor X Deficiency
Hematuria ORPHA:328
Hereditary Hemorrhagic Telangiectasia
Nephrolithiasis, Hematuria ORPHA:774
Autoerythrocyte Sensitization Syndrome
Hematuria ORPHA:324636
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Renal dysplasia, Abnormalit... ORPHA:158684
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... OMIM:263200
Granulomatosis With Polyangiitis
Ureteral stenosis, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy, Renal insufficiency ORPHA:900
Fabry Disease
Abnormal renal tubule morphology, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulopathy, Nep... ORPHA:324
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Nephrocalcinosis, Nephrolithiasis, Hematuria, Proteinuria, Hype... ORPHA:534
Secondary Intestinal Lymphangiectasia
Anasarca, Constrictive pericarditis, Pleural effusion, Chylous ascites, Lymphedema, Intestinal bl... ORPHA:90363
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Beta 2-microglobulinuria, Sterile pyuria, Decre... ORPHA:91500
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Focal segmen... OMIM:232200
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Renal insufficie... OMIM:276700
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Focal segmen... OMIM:232220
Leptospirosis
Subconjunctival hemorrhage, Optic neuritis, Rhabdomyolysis, Uveitis, Arrhythmia, Retinal hemorrha... ORPHA:509
Coccidioidomycosis
Vasospasm, Exudative pleural effusion, Pneumonia, Erythema nodosum, Arthritis, Peritonitis, Morbi... ORPHA:228123
Blau Syndrome
Camptodactyly of finger, Erythema nodosum, Posterior uveitis, Abnormal inflammatory response, Iri... ORPHA:90340
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hematuria ORPHA:60025
Rift Valley Fever
Hematuria ORPHA:319251
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Oroticaciduria, Hyperlysinuria, Proteinuria, Decreased glomerul... ORPHA:470
Fabry Disease
Renal insufficiency, Urinary mulberry cells, Lipiduria, Proteinuria OMIM:301500
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albuminuria OMIM:619525
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Angioosteohypertrophic Syndrome
Hematuria ORPHA:2346
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Uveitis, Orchitis, Bradycardia, Maculopapular exanthema,... ORPHA:99826
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Hematuria, Acute kidney injury, Dysuria, Abnormal penis morphology, Renal t... ORPHA:95455
Gaucher Disease
Hematuria, Proteinuria ORPHA:355
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Renal tubular atrophy, Ren... OMIM:614748
Aymé-Gripp Syndrome
Camptodactyly, Pericardial effusion, Congenital diaphragmatic hernia, Pericarditis ORPHA:1272
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Micropenis, Hypospadias, Hematuria OMIM:619475
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Abnormal left ventricular function, Sudden cardiac death, Myocardial ... ORPHA:391665
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Phimosis, Hematuria ORPHA:99921
Visceral Steatosis, Congenital
Myocardial steatosis OMIM:228100
Ayme-Gripp Syndrome
Camptodactyly, Pericarditis OMIM:601088
Tetrasomy 9P
Myositis, Patent foramen ovale, Abnormal mitral valve morphology, Dextrocardia, Pulmonary arteria... ORPHA:3310
Pmm2-Cdg
Anasarca, Multiple joint contractures, Hypertrophic cardiomyopathy, Lymphedema, Pericarditis, Ang... 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 Clu

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 Clu.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) (ClusterXN1)tm1(Brd) (Cluster5N1)(tm1)Brd PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) (Cluster5N1)(tm1)Brd (ClusterXN1)tm1(Brd)