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

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

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X-ray

XRay Images Forepaw

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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DSS Histology

Images

8 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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Eye Morphology

Images Slit Lamp

8 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
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Severe short stature ORPHA:2820
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation OMIM:189800
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Porphyrinuria, Elevated urinary delta... ORPHA:79273
Harderoporphyria
Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urine OMIM:618892
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Growt... ORPHA:567548
Blue Diaper Syndrome
Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Hartnup Disease
Short stature, Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Cednik Syndrome
Abnormal corpus callosum morphology, Polymicrogyria, Proteinuria, Microcephaly, Pachygyria, Nephr... ORPHA:66631
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cerebral atrophy, Polymicr... OMIM:301006
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Cerebral cortical atrophy, Focal cortical dysplasia, Stage 5 ... OMIM:618349
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Hyperbiliverdinemia
Green urine OMIM:614156
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Red-brown urine, Polymicrogyria, Cerebral calcification, Abnormal b... ORPHA:157
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine, Failure to thrive, Postnatal growth retardation ORPHA:79303
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Dubin-Johnson Syndrome
Abnormal urinary color ORPHA:234
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Decreased body weight, Prote... OMIM:618347
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Red-brown urine, Polymicrogyria, Intracerebral periventricular calc... ORPHA:228308
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90037
Cold Agglutinin Disease
Abnormal urinary color ORPHA:56425
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine, Dandy-Walker malformation ORPHA:228305
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90036
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... ORPHA:93552
Galloway-Mowat Syndrome 10
Cerebral atrophy, Secondary microcephaly, Stage 5 chronic kidney disease, Podocyte foot process e... OMIM:619609
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Cerebral atrophy, Polymicrogyria, Stage 5 chronic kidney dise... OMIM:617730
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Porphyria Due To Ala Dehydratase Deficiency
Increased urinary porphobilinogen, Purple urine ORPHA:100924
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Cerebral cortical atrophy, Proteinuria, Aplasia/Hypoplasia of the cerebellum, Short ... ORPHA:1192
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color ORPHA:90033
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Focal T2 hyperintense basal ganglia lesion OMIM:614652
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Proteinuria, Delayed puberty, Abnormality of the kidney, Short stature, Growth... ORPHA:369
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu... ORPHA:79276
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Short stature OMIM:620010
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Short stature, Nephrotic syndrome, Small for gestational age OMIM:215250
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Failure to thrive, Beta 2-micro... ORPHA:97362
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Glycosuria, Renal tubular acidos... OMIM:613404
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Preeclampsia
Chronic kidney disease, Acute kidney injury, Intrauterine growth retardation, Renal insufficiency... ORPHA:275555
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, Dark yellow urine, Small for gestational age, Failure to thrive ORPHA:30391
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:615605
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Growth delay, Failure to thrive, Membranoproliferative glomerulonephritis OMIM:619858
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Cerebral cortical atrophy, Growth delay, Proteinuria, Microcephaly, Glomerular sclerosis, Glomeru... OMIM:619428
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Cerebral cortical atrophy, Failure to thrive in infancy, Decreased glomer... ORPHA:488627
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Cerebral atrophy ORPHA:412217
Nephrotic Syndrome, Type 1
Growth delay, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse mesangial ... OMIM:256300
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Alkaptonuria
Decreased glomerular filtration rate, Dark urine, Elevated urinary homogentisic acid, Nephrolithi... OMIM:203500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Cystinosis
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, Pr... ORPHA:213
Anti-Glomerular Basement Membrane Disease
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency ORPHA:375
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Leukoencephalopathy, Failure to thrive, Cerebral calcification, Renal insufficiency, Microcephaly... OMIM:619147
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm ORPHA:538
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Abnormality ... ORPHA:261222
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Cerebellar vermis hypoplasia, Hematuria, Proteinuria, Tubulointerstitial nephritis, Short stature... OMIM:616901
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosphaturia, Protei... OMIM:616026
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Intrauterine growth retardation, Mesomelic short stature, Proteinuria, Hematuria, Sh... ORPHA:1765
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Failure to thrive, Beta 2-microglobulinuria, Po... OMIM:227810
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Microcephaly, Proteinuria OMIM:603585
Galactosemia I
Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Albuminuria OMIM:230400
Ddost-Cdg
Nephrotic range proteinuria, Short stature, Failure to thrive ORPHA:300536
Porphyria, Congenital Erythropoietic
Short stature, Pink urine, Red urine OMIM:263700
Galloway-Mowat Syndrome 3
Failure to thrive, Cerebral atrophy, Intrauterine growth retardation, Stage 5 chronic kidney dise... OMIM:617729
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Failure to thrive, Cerebral atrophy, Recurrent urinary tr... OMIM:619487
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Nephrotic syndrome, Proteinuria ORPHA:834
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Growth delay,... ORPHA:1830
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Short stature, Urinary excretion of sialyl... OMIM:256550
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Galloway-Mowat Syndrome
Nephropathy, Intrauterine growth retardation, Proteinuria, Microcephaly, Pachygyria, Nephrotic sy... ORPHA:2065
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Postnatal growth retardation, Intrauterine growth retardation, Prot... ORPHA:2728
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Ch... OMIM:614376
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa... OMIM:308940
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Donnai-Barrow Syndrome
Proteinuria, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:2143
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Hepatoerythropoietic Porphyria
Red-brown urine, Purple urine, Red urine ORPHA:95159
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Growt... OMIM:618882
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Leukoencephalopathy, Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubul... OMIM:220110
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Cerebral atrophy, Hypoplasia of the brainstem, Secondary micr... OMIM:251300
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Hypernatriuria, Low-molecular-wei... ORPHA:47159
Mirizzi Syndrome
Dark urine ORPHA:521219
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal s... OMIM:613845
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria... OMIM:248250
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Growth dela... ORPHA:411634
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec... ORPHA:18
Alkaptonuria
Aminoaciduria, Dark urine, Elevated urinary homogentisic acid, Nephrolithiasis ORPHA:56
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria ORPHA:182050
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria, Macrocephaly, Short stature ORPHA:1307
Congenital Erythropoietic Porphyria
Porphyrinuria, Red-brown urine, Increased urinary porphobilinogen, Purple urine ORPHA:79277
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Cerebral cortical atrophy, Homocystinuria, Acute kidney injury, Failure to thrive, C... OMIM:277400
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... ORPHA:85450
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Xfe Progeroid Syndrome
Severe short stature, Failure to thrive, Renal insufficiency, Proteinuria, Microcephaly, Cachexia OMIM:610965
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Failure to thrive, Mild proteinuria OMIM:301108
Majeed Syndrome
Failure to thrive, Proteinuria, Glomerulopathy, Cachexia, Weight loss, Microscopic hematuria ORPHA:77297
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Cystinosis, Nephropathic
Cerebral calcification, Hematuria, Weight loss, Aminoaciduria, Generalized aminoaciduria, Cerebra... OMIM:219800
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Delayed puberty, Membranoproliferative glomerulonephritis, Macroscopic hema... ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Growth delay, Proteinuria OMIM:614034
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Stage 5 chronic kidney disea... OMIM:242900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Increased body weight, Proteinuria, Renal Fanconi syndrome ORPHA:263455
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome ORPHA:330001
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Aplasia/Hypoplasia of the cerebellum, Short sta... ORPHA:2715
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Pseudo-Torch Syndrome 3
Acute kidney injury, Cerebral calcification, Cerebellar hypoplasia, Proteinuria, Abnormal cerebra... OMIM:618886
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Diffuse cerebral atrophy, Proteinuria, Glomerular sclerosis, ... OMIM:607426
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, Dilatation of the renal pelvis, Failure to thrive, Hyperechogeni... OMIM:619534
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia... ORPHA:411629
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:29072
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Growth delay, Dicarboxylic aciduria OMIM:231530
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Cerebral calcification, Proteinuria, Microcephaly,... OMIM:617303
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Proximal tubulopathy, Failure to thrive, Cerebellar hypoplasia, Mic... OMIM:212065
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Proteinuria, Macrocephaly... OMIM:222448
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Secondary microcephaly, Mild proteinuria, Hypoplasia of the corpus callosum OMIM:619685
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Fabry Disease
Lipiduria, Renal insufficiency, Proteinuria, Delayed puberty, Urinary mulberry cells OMIM:301500
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria, Neonatal death OMIM:620300
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Growth delay ORPHA:57
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:91138
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Microcephaly, Chordee, Micropenis, Short stature OMIM:300519
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:36412
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Cockayne Syndrome Type 1
Failure to thrive, Basal ganglia calcification, Postnatal growth retardation, Renal insufficiency... ORPHA:90321
Papa Syndrome
Proteinuria ORPHA:69126
Al Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Renal interstitial amyloid deposits, Abnormality o... ORPHA:85443
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Hematuria... ORPHA:1018
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Weight loss, Abnormality... ORPHA:91139
Arima Syndrome
Cerebellar vermis hypoplasia, Nephronophthisis, Growth delay, Hypoplasia of the brainstem, Stage ... OMIM:243910
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Weight loss, Tubulointerstitial neph... ORPHA:183
Spondyloenchondrodysplasia
Chronic kidney disease, Cerebral calcification, Abnormal periventricular white matter morphology,... ORPHA:1855
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Cerebral calcification, Focal hypointensity of cerebral white matter on MRI, Protein... ORPHA:247691
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Abnormal periventricular white matter morphology OMIM:192315
Cockayne Syndrome B
Severe short stature, Failure to thrive, Cerebral atrophy, Basal ganglia calcification, Intrauter... OMIM:133540
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Hyperechogenic kidneys, Proteinuria, Moderate proteinuria, Hemoly... OMIM:301110
Melas
Nephropathy, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebral white matter, Focal se... ORPHA:550
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Dicarboxylic aciduria, Intrauterine growth retardation, Proportionate short st... ORPHA:71212
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria, Weight loss, Failure to thrive OMIM:619377
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Microcephaly, Exercise-induced myoglobinuria, Dicarboxylic aciduria OMIM:201475
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypoplastic olfactory lobes, Cerebral cortical atrophy, Aminoaciduria, Failure to thrive, Polymic... OMIM:214100
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Microscopic hematuria ORPHA:71273
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Small for gestational age, Failure to thrive 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
Postnatal growth retardation, Renal tubular acidosis, Increased body weight, Myoglobinuria, Short... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Renal tubular acidosis, Increased body weight, Myoglobinuria, Delayed puberty,... ORPHA:264580
Imerslund-Gräsbeck Syndrome
Proteinuria, Weight loss, Failure to thrive ORPHA:35858
Cockayne Syndrome
Severe short stature, Unilateral renal agenesis, Renal hypoplasia, Cerebral atrophy, Basal gangli... ORPHA:191
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Legionnaires Disease
Hematuria, Proteinuria, Renal insufficiency ORPHA:549
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Short stature, Nephrotic syndrome OMIM:161200
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology OMIM:274150
Wagro Syndrome
Proteinuria, Obesity, Nephroblastoma OMIM:612469
Renal Cysts And Diabetes Syndrome
Cerebral cortical atrophy, Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chron... OMIM:137920
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
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Intrauterine growth retardation, ... ORPHA:99885
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Cockayne Syndrome A
Failure to thrive, Cerebral atrophy, Basal ganglia calcification, Intrauterine growth retardation... OMIM:216400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Cornelia De Lange Syndrome 1
Renal hypoplasia, Intrauterine growth retardation, Reduced renal corticomedullary differentiation... OMIM:122470
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... OMIM:243700
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Cerebral calcification, Urinary glycosaminoglycan excretion, ... ORPHA:505248
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Microcephaly, Myoglobinuria, Ketonuria, Cerebral atrophy OMIM:616878
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232220
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Pearson Syndrome
Glycosuria, Postnatal growth retardation, Renal insufficiency, Proteinuria, Microcephaly, Renal c... ORPHA:699
Hellp Syndrome
Increased body weight, Proteinuria, Acute kidney injury, Hemoglobinuria ORPHA:244242
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Abnormality of body weight, Decreased body weight, Increased body weight, ... ORPHA:2298
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency ORPHA:556
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Failure to thrive, Cerebral calcification, Renal tu... ORPHA:358
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Failure to thrive, Periventricular cysts, Low-molecular-weight proteinuria, Postna... OMIM:309000
Adult-Onset Still Disease
Proteinuria, Weight loss ORPHA:829
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Holoprosencephaly
Abnormality of the urinary system, Aplasia/Hypoplasia of the corpus callosum, Failure to thrive i... ORPHA:2162
Orofaciodigital Syndrome I
Abnormal cortical gyration, Cerebral atrophy, Agenesis of corpus callosum, Proteinuria, Microceph... OMIM:311200
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis... ORPHA:90291
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Failure to thrive, Oroticaciduria, Decreased g... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria... ORPHA:79259
Aymé-Gripp Syndrome
Cerebral cortical atrophy, Postnatal growth retardation, Hypoplasia of the corpus callosum, Prote... ORPHA:1272
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Short stature OMIM:208500
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Failure to thrive, Renal insufficiency, Neph... ORPHA:534
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Microcephaly, Diffuse mesang... OMIM:609049
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Fabry Disease
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... ORPHA:324
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He... OMIM:232240
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... ORPHA:221139
Lymphatic Filariasis
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... ORPHA:2035
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Bardet-Biedl Syndrome 20
Proteinuria, Obesity, Micropenis OMIM:619471
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Obesity, Proportionate short stature, Hydronephrosis, Growth delay OMIM:619269
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Neuroleptic Malignant Syndrome
Urinary incontinence, Proteinuria, Myoglobinuria, Acute kidney injury ORPHA:94093
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Gaucher Disease Type 3
Hematuria, Proteinuria, Delayed puberty, Growth delay ORPHA:77261
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Weight loss, Hydr... ORPHA:900
Cocaine Intoxication
Acute kidney injury, Ischemic stroke, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstit... ORPHA:90068
Postinfectious Vasculitis
Ischemic stroke, Hematuria, Proteinuria, Weight loss, Glomerulonephritis, Membranoproliferative g... ORPHA:48435
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Obesity, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Primary ... OMIM:614231
Immunoglobulin A Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:761
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, We... ORPHA:91500
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Agenesis of corpus callosum, Proteinuria, Hydr... ORPHA:2750
Glycogen Storage Disease Xii
Hemoglobinuria, Delayed puberty, Short stature OMIM:611881
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Weight loss, Lupus nephritis, Pyuria ORPHA:536
Relapsing Polychondritis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Biparietal narrowing ORPHA:728
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Williams Syndrome
Failure to thrive in infancy, Obesity, Renal insufficiency, Renal duplication, Multiple renal cys... ORPHA:904
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Short stature, Postnatal growth retardation OMIM:619127
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Microcephaly, Macrocephaly OMIM:616682
Familial Mediterranean Fever
Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria ORPHA:342
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Decreased urine output, Nephrotic range proteinuria ORPHA:544482
Gaucher Disease
Hematuria, Proteinuria, Delayed puberty, Short stature ORPHA:355
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... OMIM:619381
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Crimean-Congo Hemorrhagic Fever
Hematuria, Proteinuria ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Failure to thrive, Membranoproliferative glomerulone... OMIM:619525
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Pmm2-Cdg
Cerebellar vermis hypoplasia, Failure to thrive, Cerebellar hypoplasia, Proteinuria, Abnormal ren... 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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