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Gene: Wtip MGI:2141920

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Gene Summary

Name:
WT1 interacting protein
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Wtiptm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 50% (1 of 2)
Bone marrow  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

130 Images

View images

Human diseases caused by Wtip 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 Wtip by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uridine-Cytidineuria
Elevated urinary cytidine, Elevated urinary uridine level OMIM:618477
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Nephrotic Syndrome, Type 17
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... OMIM:601894
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome OMIM:614199
Focal Segmental Glomerulosclerosis 5
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... OMIM:137950
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... OMIM:616818
Nail-Patella-Like Renal Disease
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... OMIM:617609
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria OMIM:161900
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... OMIM:615008
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:161950
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... ORPHA:54370
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome OMIM:617006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... OMIM:613092
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613913
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... ORPHA:84090
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:603278
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Proteinuria, Hematuria ORPHA:2134
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... OMIM:614377
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:608709
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... ORPHA:567544
Amyloidosis, Familial Visceral
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome OMIM:105200
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Frasier Syndrome
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:136680
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:614455
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... OMIM:300555
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... ORPHA:656
Cryoglobulinemia, Familial Mixed
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease OMIM:123550
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:617731
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria OMIM:615605
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Microscopic hematuria ORPHA:79087
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... OMIM:613388
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:203780
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... OMIM:134600
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:301006
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... ORPHA:567548
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria ORPHA:54057
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Renal insufficiency, Proteinuria OMIM:134610
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Lcat Deficiency
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... ORPHA:650
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria ORPHA:375
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease ORPHA:275555
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria OMIM:612924
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... OMIM:619609
Galloway-Mowat Syndrome 4
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... OMIM:617730
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria OMIM:612926
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... OMIM:256300
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:104200
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome OMIM:215250
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:1192
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... OMIM:300009
Frasier Syndrome
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... ORPHA:347
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria OMIM:610205
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria OMIM:166300
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... OMIM:617575
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... ORPHA:228302
Galloway-Mowat Syndrome 6
Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:618347
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Myh9-Related Disease
Nephropathy, Renal insufficiency, Nephritis, Proteinuria ORPHA:182050
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria OMIM:616026
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:618348
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria OMIM:613404
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Membranoproliferative glomerulonephritis OMIM:619858
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Renal artery stenosis, Proteinuria OMIM:209010
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria OMIM:230400
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis... ORPHA:261222
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... ORPHA:63
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... OMIM:308940
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria ORPHA:369
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... OMIM:146255
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria OMIM:619428
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurrent myoglobinuria, Chronic... ORPHA:368
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... OMIM:301050
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... OMIM:614376
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... ORPHA:3337
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... OMIM:300554
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... ORPHA:93126
Cystinosis
Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency, Renal tubular dysfunction ORPHA:213
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Focal segmental glomerulosclerosis, Recurr... OMIM:607426
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Elevate... ORPHA:276621
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kidney disease OMIM:613845
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Proteinuria, Hematuria OMIM:616901
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria OMIM:171420
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... ORPHA:411709
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Heme Oxygenase 1 Deficiency
Proteinuria, Hematuria, Nephritis OMIM:614034
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... ORPHA:85450
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Proteinuria, Nephrotic syndrome ORPHA:330001
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... ORPHA:255249
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:91138
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... ORPHA:439232
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:254900
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N... ORPHA:1830
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i... ORPHA:93552
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Oliguria, Renal insufficiency, Dark urine, R... ORPHA:99845
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Nephropathy, Prot... OMIM:277400
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Hereditary Pheochromocytoma-Paraganglioma
Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated uri... ORPHA:29072
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Proteinuria, Renal Fanconi syndrome ORPHA:263455
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology, Microscopic hematuria OMIM:274150
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... ORPHA:567546
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... ORPHA:488627
Fabry Disease
Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria OMIM:301500
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:36412
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria ORPHA:713
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria ORPHA:251004
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria OMIM:618886
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Renal Cysts And Diabetes Syndrome
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... OMIM:137920
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Chronic kidney disease ORPHA:284426
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Renal insufficiency, Focal segme... OMIM:242900
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria OMIM:232800
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Recurrent urinary tract infectio... ORPHA:33001
Diffuse Alveolar Hemorrhage
Proteinuria, Hematuria ORPHA:90060
Simple Cryoglobulinemia
Nephrotic syndrome, Abnormality of the kidney, Membranoproliferative glomerulonephritis, Nephriti... ORPHA:91139
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Glomerular sclerosis, Thicken... OMIM:619487
Ohdo Syndrome
Proteinuria OMIM:249620
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Proteinuria, Focal segment... OMIM:617303
Pheochromocytoma
Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis OMIM:171300
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria ORPHA:86818
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Hematuria OMIM:192315
Galloway-Mowat Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:2065
Malakoplakia
Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy ORPHA:556
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria ORPHA:549
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria ORPHA:77297
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Albuminuria, ... ORPHA:85443
Glycogen Storage Disease Ia
Enlarged kidney, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeruloscle... OMIM:232200
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Low-molecul... ORPHA:411629
Renal Nutcracker Syndrome
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Diffuse mesangial scler... OMIM:617729
Cystinosis, Nephropathic
Aminoaciduria, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematuria, Medullar... OMIM:219800
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... ORPHA:157
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:183
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Arima Syndrome
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... OMIM:243910
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Glomerular sclerosis ORPHA:247691
Glycogen Storage Disease Ib
Enlarged kidney, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeruloscle... OMIM:232220
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Systemic Sclerosis
Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminuria, Proteinuria, Ren... ORPHA:90291
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... ORPHA:449395
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria, Hypospadias OMIM:619147
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Stage 5 chronic kidney disease, Hematuria, Nephropathy, Proteinuria, Chronic kidney disease ORPHA:1018
Nail-Patella Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Hematuria, Nephrit... ORPHA:2614
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Enlarged kidney, Proteinuria, Urinary glycosaminoglycan excretion, Heavy prot... ORPHA:505248
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... OMIM:277900
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:251300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria OMIM:201475
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Proteinuria, Chordee OMIM:300519
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Proximal tubulopathy, Proteinuria, Nephrotic syndrome OMIM:212065
Spondyloenchondrodysplasia
Proteinuria, Hematuria, Chronic kidney disease ORPHA:1855
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Anuria, Acute tubulointerstitial nephritis, Acute kidney injury, De... ORPHA:340
Lymphatic Filariasis
Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr... ORPHA:2035
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Gaucher Disease Type 1
Proteinuria, Hematuria ORPHA:77259
Glycogen Storage Disease Ic
Hematuria, Decreased glomerular filtration rate, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:232240
Hellp Syndrome
Acute kidney injury, Hemoglobinuria, Proteinuria ORPHA:244242
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease OMIM:208500
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Hyperlysinuria, Abnormal renal tubule morphology, Ornithinuria, Oro... ORPHA:470
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Melas
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis ORPHA:550
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hypospadias, Albuminuria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E... OMIM:122470
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria ORPHA:85448
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria ORPHA:90321
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Focal segme... ORPHA:358
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Hemoglobinuria, Glycosuria, Proteinuria, Hemosiderinuria, Renal insufficienc... ORPHA:447
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Neuroleptic Malignant Syndrome
Acute kidney injury, Urinary incontinence, Proteinuria, Myoglobinuria ORPHA:94093
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:761
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Cocaine Intoxication
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Proteinuria ORPHA:90068
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:79240
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Aminoaciduria, Abnormal renal tubule morphology, Hematuria, Proximal renal tubula... ORPHA:534
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:370
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Fabry Disease
Glomerulopathy, Nephrotic syndrome, Abnormal renal tubule morphology, Hematuria, Nephropathy, Pro... ORPHA:324
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... OMIM:614748
Pierson Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp... OMIM:609049
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:264580
Familial Mediterranean Fever
Nephrocalcinosis, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:342
Bardet-Biedl Syndrome 20
Proteinuria, Micropenis OMIM:619471
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Renal tubula... ORPHA:99885
Insulin-Resistance Syndrome Type B
Glycosuria, Proteinuria, Nephritis ORPHA:2298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Stage 5 chronic kidney disease, Enlarged kidney, Proteinuria, Nephrocalcinosis, Tubulointerstitia... ORPHA:79259
Goodpasture Syndrome
Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Macrosco... OMIM:233450
Holoprosencephaly
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis ORPHA:2162
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Granulomatosis With Polyangiitis
Glomerulopathy, Hematuria, Ureteral stenosis, Proteinuria, Renal insufficiency, Hydronephrosis ORPHA:900
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re... ORPHA:91500
Pearson Syndrome
Glycosuria, Lacticaciduria, Renal cyst, Proteinuria, Renal insufficiency ORPHA:699
Gaucher Disease Type 3
Proteinuria, Hematuria ORPHA:77261
Cockayne Syndrome
Urinary incontinence, Nephrotic syndrome, Neurogenic bladder, Unilateral renal agenesis, Abnormal... ORPHA:191
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis... OMIM:309000
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Postinfectious Vasculitis
Glomerulonephritis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis ORPHA:48435
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria ORPHA:728
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hemoglobinuria, Anuria ORPHA:90038
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Cockayne Syndrome A
Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Glycogen Storage Disease Xii
Hemoglobinuria OMIM:611881
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Anuria, Acute kidney injury, Decreased urine output, Oliguria ORPHA:544482
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Focal segmental glomerulosclerosis OMIM:619127
Williams Syndrome
Vesicoureteral reflux, Renal duplication, Recurrent urinary tract infections, Hypoplasia of penis... ORPHA:904
Kawasaki Disease
Sterile pyuria, Proteinuria ORPHA:2331
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Gaucher Disease
Proteinuria, Hematuria ORPHA:355
Crimean-Congo Hemorrhagic Fever
Proteinuria, Hematuria ORPHA:99827
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria OMIM:619525
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... ORPHA:95455
Pmm2-Cdg
Abnormal renal tubule morphology, Proteinuria, Multiple renal cysts, Nephrotic syndrome 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 Wtip

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 Wtip.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Wtiptm1a(KOMP)Wtsi PMC4739719

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MGI Allele Allele Type Produced
Wtiptm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Wtiptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Wtiptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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