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Gene: Xpnpep1 MGI:2180003

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Gene Summary

Name:
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
Synonyms:
D230045I08Rik

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
increased NK cell number Xpnpep1tm1a(KOMP)Wtsi HOM Early adult 0.00
increased gamma-delta T cell number Xpnpep1tm1a(KOMP)Wtsi HOM Early adult 0.00
preweaning lethality, incomplete penetrance Xpnpep1tm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal cranium morphology Xpnpep1tm1a(KOMP)Wtsi HOM Early adult 1.77×10-07

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

8 Images

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X-ray

XRay Images Forepaw

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Skull Lateral Orientation

20 Images

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Anti-nuclear antibody assay

Images

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

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Ear epidermis immunophenotyping

Images

18 Images

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Legacy Phenotype Associated Images
Xpnpep1tm1a(KOMP)Wtsi
HET, Male, WTSI
Xpnpep1tm1a(KOMP)Wtsi
HET, Male, WTSI
Xpnpep1tm1a(KOMP)Wtsi
HET, Male, WTSI
Xpnpep1tm1a(KOMP)Wtsi
HET, Male, WTSI
Xpnpep1tm1a(KOMP)Wtsi
HET, Female, WTSI

View all 102 images

Xpnpep1tm1a(KOMP)Wtsi
abnormal placement of pupils, HET, Male, WTSI
Xpnpep1tm1a(KOMP)Wtsi
abnormal pupil morphology, HOM, Male, WTSI
Xpnpep1tm1a(KOMP)Wtsi
eyelids fail to open, HOM, Female, WTSI
Xpnpep1tm1a(KOMP)Wtsi
corneal ulcer, HOM, Female, WTSI
Xpnpep1tm1a(KOMP)Wtsi
Fused cornea and lens, HET, Male, WTSI

View all 8 images

Xpnpep1tm1a(KOMP)Wtsi
head, abnormal snout morphology, WT, Female, WTSI

Human diseases caused by Xpnpep1 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 Xpnpep1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 17
Short stature, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Severe short stature, Proteinuria ORPHA:2820
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Harderoporphyria
Increased urinary porphobilinogen, Red urine, Increased urine harderoporphyrin level OMIM:618892
Hereditary Coproporphyria
Dark urine, Porphyrinuria, Increased urinary porphobilinogen, Nephropathy, Elevated urinary delta... ORPHA:79273
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Increased body weight ORPHA:94086
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Hartnup Disease
Abnormal urinary color, Short stature, Neutral hyperaminoaciduria ORPHA:2116
Cednik Syndrome
Short stature, Proteinuria, Microcephaly, Nephrotic syndrome, Pachygyria, Polymicrogyria, Abnorma... ORPHA:66631
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Galloway-Mowat Syndrome 8
Proteinuria, Microcephaly, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal s... OMIM:618349
Galloway-Mowat Syndrome 2, X-Linked
Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ce... OMIM:301006
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Hyperbiliverdinemia
Green urine OMIM:614156
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Cerebellar vermis hypoplasia, Red-brown urine, Stage 5 chronic kidney dis... ORPHA:157
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Failure to thrive, Dark urine, Renal cyst ORPHA:79303
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Galloway-Mowat Syndrome 6
Short stature, Proteinuria, Microcephaly, Growth delay, Nephrotic syndrome, Focal segmental glome... OMIM:618347
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... ORPHA:228308
Dubin-Johnson Syndrome
Abnormal urinary color ORPHA:234
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90037
Cold Agglutinin Disease
Abnormal urinary color ORPHA:56425
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine, Dandy-Walker malformation ORPHA:228305
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Galloway-Mowat Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Primary microcep... OMIM:617731
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90036
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... ORPHA:93552
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Microcephaly, Simplified gyral pattern, Cerebral atroph... OMIM:619609
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Short stature, Proteinuria, Stage 5 c... OMIM:617730
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Porphyria Due To Ala Dehydratase Deficiency
Increased urinary porphobilinogen, Purple urine ORPHA:100924
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color ORPHA:90033
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Proteinuria, Nephrotic syndrome, Aplasia/Hypoplasia of the cerebellum, Nephropathy... ORPHA:1192
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Coenzyme Q10 Deficiency, Primary, 3
Focal T2 hyperintense basal ganglia lesion, Nephrotic syndrome, Proteinuria OMIM:614652
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ... ORPHA:79276
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Short stature, Abnormality of the kidney, Growth delay, Delayed puberty, Failure to ... ORPHA:369
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Maternally-Inherited Diabetes And Deafness
Aplasia/Hypoplasia of the cerebellum, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Cholestasis, Progressive Familial Intrahepatic, 12
Short stature, Proteinuria OMIM:620010
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Microcephaly, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Lissencephaly... OMIM:613404
Renal Hypoplasia, Bilateral
Failure to thrive, Short stature, Proteinuria, Small for gestational age, Chronic kidney disease,... ORPHA:97362
Dent Disease 2
Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ... OMIM:300555
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Short stature, Proteinuria, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... OMIM:614377
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Isolated Biliary Atresia
Severe failure to thrive, Failure to thrive, Small for gestational age, Dark yellow urine ORPHA:30391
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Fanconi Renotubular Syndrome 2
Renal insufficiency, Short stature, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Microcephaly, Growth delay, Nephrotic syndrome, Glo... OMIM:619428
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Cerebral atrophy ORPHA:412217
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Growth delay, Aminoaciduria, Glycosuria, Low-molecular-weight p... OMIM:615605
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Proteinuria, Failure to thrive in infa... ORPHA:488627
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Short stature, Proteinuria, Minimal change glomerulonephritis, Micro... OMIM:618348
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Cystinosis
Renal insufficiency, Short stature, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Delaye... ORPHA:213
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Cerebral calcification, Small for gestational age, Microcephaly, Leukoenceph... OMIM:619147
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Microcephaly, Stage 5 chron... OMIM:617575
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:375
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour... ORPHA:261222
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Cerebellar vermis hypoplasia, Short stature, Proteinuria, Hematuria, Tubulointerstitial nephritis... OMIM:616901
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Short stature, Proteinuria, Large for gestational age, Nephrocalcinosis, Amino... OMIM:616026
Dyschondrosteosis-Nephritis Syndrome
Short stature, Proteinuria, Nephropathy, Hematuria, Mesomelic short stature, Intrauterine growth ... ORPHA:1765
Porphyria, Congenital Erythropoietic
Red urine, Short stature, Pink urine OMIM:263700
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Failure to thrive OMIM:230400
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Hypercalciuria, Generali... OMIM:227810
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Aicardi-Goutieres Syndrome 9
Renal insufficiency, Cerebral calcification, Recurrent urinary tract infections, Proteinuria, Mic... OMIM:619487
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Microcephaly OMIM:603585
Ddost-Cdg
Failure to thrive, Short stature, Nephrotic range proteinuria ORPHA:300536
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy ORPHA:834
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Failure to thrive, Short stature, Proteinuria, Microcephaly, Simplif... OMIM:617729
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Short stature, Proteinuria, Small for gestational age, Minimal change glomerul... ORPHA:1830
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Microcephaly, Postnatal growth retardation, Multiple bladder diverticula, Intrauteri... ORPHA:2728
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Short... OMIM:256550
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Galloway-Mowat Syndrome
Short stature, Proteinuria, Microcephaly, Nephropathy, Nephrotic syndrome, Intrauterine growth re... ORPHA:2065
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Hepatoerythropoietic Porphyria
Red urine, Red-brown urine, Purple urine ORPHA:95159
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Donnai-Barrow Syndrome
Macrocephaly, Proteinuria, Aplasia/Hypoplasia of the corpus callosum ORPHA:2143
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal... OMIM:614376
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Microcephaly, Hemolytic-uremic syndrome, Cystathioninuria, Meth... OMIM:277400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... OMIM:308940
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Leukoencephalopathy, Renal tubular dysfunction, Aminoaciduria, Re... OMIM:220110
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Short stature, Proteinuria, Small for gestation... OMIM:251300
Mirizzi Syndrome
Dark urine ORPHA:521219
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Failur... OMIM:613845
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... OMIM:120330
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Red-brown urine, Purple urine, Porphyrinuria ORPHA:79277
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Short stature, Renal hypoplasia, Macrocephaly ORPHA:1307
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Weight loss, Tub... ORPHA:85450
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... ORPHA:18
Xfe Progeroid Syndrome
Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Microcephaly, Failure to thrive OMIM:610965
Heme Oxygenase 1 Deficiency
Growth delay, Hematuria, Nephritis, Proteinuria OMIM:614034
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Obesity, Macroscopic hematu... ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive ORPHA:77297
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Neph... OMIM:300554
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Small for gestational age, Disproportionate short-trunk short s... OMIM:242900
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Aplasia/Hypoplasia of the cerebe... ORPHA:2715
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Basal ganglia calcification, Chronic kidney disease, Thickened glomerular basement m... OMIM:146255
Pseudo-Torch Syndrome 3
Cerebral calcification, Proteinuria, Abnormal cerebral white matter morphology, Cerebellar hypopl... OMIM:618886
Cystinosis, Nephropathic
Cerebral calcification, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, ... OMIM:219800
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Coenzyme Q10 Deficiency, Primary, 1
Diffuse cerebral atrophy, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segment... OMIM:607426
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Short stature, Dilatation of the renal pelvis... OMIM:619534
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Growth delay, Abnormal cerebral white ... ORPHA:411629
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Ohdo Syndrome
Short stature, Proteinuria OMIM:249620
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Mucopolysaccharidosis-Plus Syndrome
Cerebral calcification, Proteinuria, Microcephaly, Nephrotic syndrome, Focal segmental glomerulos... OMIM:617303
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Secondary microcephaly, Hypoplasia of the corpus callosum, Mild proteinuria OMIM:619685
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy, Partial agenesis of the corpus callosum, Aplasia/... OMIM:222448
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Proteinuria, Microcephaly, Olivopontocerebellar hypoplasia, Renal c... OMIM:212065
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Delayed puberty, Lipiduria OMIM:301500
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Myoglobinuria, Acute kidney injury ORPHA:57
Cryoglobulinemic Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:91138
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Short stature, Microcephaly, Chordee, Micropenis OMIM:300519
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Postnatal growth retardation, Basal ganglia calcification, Fail... ORPHA:90321
Hypocomplementemic Urticarial Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:36412
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Papa Syndrome
Proteinuria ORPHA:69126
Arima Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Stage 5 chron... OMIM:243910
Spondyloenchondrodysplasia
Cerebral calcification, Short stature, Proteinuria, Chronic kidney disease, Disproportionate shor... ORPHA:1855
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial neph... ORPHA:183
Melas
Short stature, Proteinuria, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcif... ORPHA:550
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:620133
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cerebral calcification, Proteinuria, Focal hypointensity of cerebral white matter on MRI, Abnorma... ORPHA:247691
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Glycogen Storage Disease Ia
Proteinuria, Short stature, Nephrolithiasis, Growth delay, Focal segmental glomerulosclerosis, De... OMIM:232200
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Abnormal periventricular white matter morphology, Proteinuria OMIM:192315
Cockayne Syndrome B
Renal insufficiency, Severe short stature, Proteinuria, Small for gestational age, Microcephaly, ... OMIM:133540
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Proportionate short stature, Intrauterine growth retardation, Myoglobinuri... ORPHA:71212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Microcephaly OMIM:201475
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Hypospadias, Aplasia/Hypoplasia of the corpus callosum, Hydronephrosis, Aminoa... OMIM:214100
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Failure to thrive, Small for gestational age OMIM:609015
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Postnatal growth retardation, Increased body weight, Renal tubular acidosis, Myogl... ORPHA:79240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Increased body weight, Growth delay, Renal tubular acidosis, Delayed puberty, Myog... ORPHA:264580
Osteootohepatoenteric Syndrome
Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss OMIM:619377
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Nail-Patella Syndrome
Renal insufficiency, Short stature, Glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:161200
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Cockayne Syndrome
Neurogenic bladder, Severe short stature, Cerebral calcification, Urinary incontinence, Cerebral ... ORPHA:191
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology OMIM:274150
Gaucher Disease Type 1
Growth delay, Hematuria, Proteinuria, Delayed puberty ORPHA:77259
Legionnaires Disease
Hematuria, Renal insufficiency, Proteinuria ORPHA:549
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Wagro Syndrome
Nephroblastoma, Proteinuria, Obesity OMIM:612469
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Cornelia De Lange Syndrome 1
Short stature, Hypospadias, Proteinuria, Ectopic kidney, Microcephaly, Abnormal renal morphology,... OMIM:122470
Cockayne Syndrome A
Renal insufficiency, Short stature, Proteinuria, Microcephaly, Basal ganglia calcification, Cereb... OMIM:216400
Glycogen Storage Disease Ib
Proteinuria, Short stature, Nephrolithiasis, Focal segmental glomerulosclerosis, Delayed puberty,... OMIM:232220
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria, Cerebral atrophy, Microcephaly OMIM:616878
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Cerebral calcification, Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heav... ORPHA:505248
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... ORPHA:99885
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Pearson Syndrome
Renal insufficiency, Proteinuria, Small for gestational age, Microcephaly, Postnatal growth retar... ORPHA:699
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Gitelman Syndrome
Cerebral calcification, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubuloint... ORPHA:358
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Insulin-Resistance Syndrome Type B
Proteinuria, Abnormality of body weight, Increased body weight, Weight loss, Glycosuria, Decrease... ORPHA:2298
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Postnatal growth retardation, Bicarbonatur... OMIM:309000
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Holoprosencephaly
Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Microcephaly, Aplasia/Hypoplasia ... ORPHA:2162
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... OMIM:277900
Systemic Sclerosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... ORPHA:90291
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Lysinuric Protein Intolerance
Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial... ORPHA:470
Orofaciodigital Syndrome I
Short stature, Abnormal cortical gyration, Proteinuria, Microcephaly, Porencephalic cyst, Cerebra... OMIM:311200
Aymé-Gripp Syndrome
Short stature, Proteinuria, Postnatal growth retardation, Hypoplasia of the corpus callosum, Cere... ORPHA:1272
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Short stature, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Growth delay, Nephro... ORPHA:79259
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Proximal renal tubular acidosis,... ORPHA:534
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Microcephaly, Stage 5 chronic kidney disease, Nephrotic... OMIM:609049
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Fabry Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Hematuria, Nephrotic syndrome, D... ORPHA:324
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Delayed puberty,... OMIM:232240
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria, Obesity OMIM:619471
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... ORPHA:2035
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Gaucher Disease Type 3
Growth delay, Hematuria, Proteinuria, Delayed puberty ORPHA:77261
Neuroleptic Malignant Syndrome
Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence ORPHA:94093
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Obesity, Growth delay, Moderate albuminuria, Hydronephrosis OMIM:619269
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Ischemic stroke, Acute ... ORPHA:90068
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Hydr... ORPHA:900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Microcephaly, Nephrotic syndrome, Focal segmental glomeruloscle... OMIM:614748
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Weight loss, Hematuria... ORPHA:48435
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Simplified gyral pattern, Obesity, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Prim... OMIM:614231
Glycogen Storage Disease Xii
Hemoglobinuria, Short stature, Delayed puberty OMIM:611881
Immunoglobulin A Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:761
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Agenesis of corpus callosum, Hydr... ORPHA:2750
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Biparietal narrowing ORPHA:728
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... ORPHA:447
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... OMIM:233450
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Mandibuloacral Dysplasia Progeroid Syndrome
Postnatal growth retardation, Focal segmental glomerulosclerosis, Short stature, Proteinuria OMIM:619127
Familial Mediterranean Fever
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:342
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Macrocephaly, Proteinuria, Microcephaly OMIM:616682
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Gaucher Disease
Hematuria, Proteinuria, Short stature, Delayed puberty ORPHA:355
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Anuria, Acute kidney injury ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output ORPHA:544482
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... OMIM:619381
Crimean-Congo Hemorrhagic Fever
Hematuria, Proteinuria ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic he... OMIM:619525
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Pmm2-Cdg
Cerebellar vermis hypoplasia, Proteinuria, Nephrotic syndrome, Multiple renal cysts, Cerebellar h... 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 Xpnpep1

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 Xpnpep1.

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) Xpnpep1tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Xpnpep1tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Xpnpep1tm1a(KOMP)Wtsi Xpnpep1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Xpnpep1tm1a(KOMP)Wtsi Xpnpep1tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Xpnpep1tm1a(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Xpnpep1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Xpnpep1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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