Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased 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
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

Anti-nuclear antibody assay

Images

13 Images

X-ray

XRay Images Forepaw

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Skull Lateral Orientation

20 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Slit Lamp

8 Images

Ear epidermis immunophenotyping

Images

18 Images

Legacy Phenotype Associated Images

View all 102 images

View all 8 images

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, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Nail-Patella-Like Renal Disease
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... OMIM:618176
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Myopathy Due To Malate-Aspartate Shuttle Defect
Red urine OMIM:254960
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Short stature, Microcephaly, Truncal obesity, Postnatal growth retardation OMIM:618160
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria OMIM:189800
Hereditary Coproporphyria
Dark urine, Increased urinary porphobilinogen, Nephropathy, Elevated urinary delta-aminolevulinic... ORPHA:79273
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... ORPHA:368
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Harderoporphyria
Increased urinary porphobilinogen, Red urine, Increased urine harderoporphyrin level OMIM:618892
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria, Hypercalciuria, L... OMIM:308990
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... ORPHA:228302
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Cednik Syndrome
Nephrotic syndrome, Short stature, Microcephaly, Polymicrogyria, Proteinuria, Pachygyria, Abnorma... ORPHA:66631
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
Blue Diaper Syndrome
Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Microcephaly, Hematuria, Focal segmental glomeruloscle... OMIM:618349
Hartnup Disease
Abnormal urinary color, Neutral hyperaminoaciduria, Short stature ORPHA:2116
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Hyperbiliverdinemia
Green urine OMIM:614156
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Cerebral atrophy, Short stature, Microcephaly, Polymicrogyria, Proteinuria, G... OMIM:301006
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... ORPHA:54370
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... OMIM:611555
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Carnitine Palmitoyltransferase Ii Deficiency
Abnormal basal ganglia morphology, Pachygyria, Cerebral calcification, Myoglobinuria, Cystic rena... ORPHA:157
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Renal cyst, Postnatal growth retardation ORPHA:79303
Dubin-Johnson Syndrome
Abnormal urinary color ORPHA:234
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal basal ganglia morphology, Pachygyria, Cerebral calcification, Myoglobinuria, Cystic rena... ORPHA:228308
Galloway-Mowat Syndrome 6
Decreased body weight, Nephrotic syndrome, Short stature, Microcephaly, Focal segmental glomerulo... OMIM:618347
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90037
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Oliguria, Acute kidney injury, Renal insufficiency, Exercise... ORPHA:99845
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Cold Agglutinin Disease
Abnormal urinary color ORPHA:56425
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:98375
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Cerebral atrophy, Diffuse mesangial sclerosis, Short stature, Microcephaly, C... OMIM:617730
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90036
Galloway-Mowat Syndrome 10
Cerebral atrophy, Diffuse mesangial sclerosis, Microcephaly, Podocyte foot process effacement, Pr... OMIM:619609
Preeclampsia
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... ORPHA:275555
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Dandy-Walker malformation, Myoglobinuria, Red-brown urine ORPHA:228305
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Nephritis, Abnormality of the urinary system, Hematuria, Proteinu... ORPHA:93552
Porphyria
Abnormal urinary color ORPHA:738
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... ORPHA:567544
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Porphyria Due To Ala Dehydratase Deficiency
Increased urinary porphobilinogen, Purple urine ORPHA:100924
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color ORPHA:90033
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Microcephaly, Proteinuria, Pachygyria, Stage 5 chronic kidney disease, Glomer... OMIM:617731
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Nephrotic syndrome, Short stature, Nephropathy, Aplasia/Hypoplasia of ... ORPHA:1192
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Short stature, Abnormality of the kidney, Proteinuria, Delayed puberty, Growth... ORPHA:369
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Acute Intermittent Porphyria
Dark urine, Dysuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic aci... ORPHA:79276
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Aplasia/Hypoplasia of the cerebellum, Renal insufficiency ORPHA:225
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Short stature OMIM:620010
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Renal tubular acidosis, Aminoaciduria, Microcephaly, Nephropathy, Glycosuria, ... OMIM:613404
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Short stature, Small for gestational age, Mucopolysacchariduria, Proteinuria OMIM:215250
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Short stature, Low-molecular-weight proteinuria, Hypercalc... OMIM:300555
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... ORPHA:93101
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Membranoproliferative glomerulonephritis, Growth delay, Proteinuria OMIM:619858
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Short stature, Glycosuria, Proteinuria, Renal insuffici... OMIM:134600
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Isolated Biliary Atresia
Failure to thrive, Dark yellow urine, Severe failure to thrive, Small for gestational age ORPHA:30391
Fanconi Renotubular Syndrome 3
Growth delay, Aminoaciduria, Short stature, Glycosuria, Low-molecular-weight proteinuria, Hyperph... OMIM:615605
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Small for gest... OMIM:256300
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Chronic kidney disease, Nephrotic syndrome, Dyspl... ORPHA:488627
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Short stature, Microcepha... OMIM:618348
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Cerebral cortical atrophy, Hypospadias, Microcephaly, Proteinuria, Glomerulon... OMIM:619428
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Hematuria, Proteinuria ORPHA:54057
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Leukoencephalopathy, Failure to thrive, Small for gestational age, Cerebral calcification, Hyposp... OMIM:619147
Cystinosis
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Short stature, Nephropathy, Proteinu... ORPHA:213
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Cerebral atrophy ORPHA:412217
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Short stature, G... OMIM:300009
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Obesity, Vesicour... ORPHA:261222
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Galloway-Mowat Syndrome 3
Failure to thrive, Nephrotic syndrome, Cerebral atrophy, Diffuse mesangial sclerosis, Short statu... OMIM:617729
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria ORPHA:220
Dyschondrosteosis-Nephritis Syndrome
Short stature, Nephropathy, Hematuria, Proteinuria, Intrauterine growth retardation, Mesomelic sh... ORPHA:1765
Galactosemia I
Increased level of galactitol in urine, Failure to thrive, Aminoaciduria, Galactosuria, Albuminuria OMIM:230400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Short stature, Glycosuria, Large for gestational age, Proteinuria, Hyperphosphatur... OMIM:616026
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Renal angiomyolipoma, Hematuria, Multiple renal cysts ORPHA:538
Aicardi-Goutieres Syndrome 9
Failure to thrive, Cerebral atrophy, Basal ganglia calcification, Micropenis, Cerebral calcificat... OMIM:619487
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Microcephaly, Focal segmental glomer... OMIM:617575
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... ORPHA:85445
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria, Short stature ORPHA:300536
Congenital Disorder Of Glycosylation, Type Iif
Microcephaly, Proteinuria, Aminoaciduria OMIM:603585
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microcephaly, Proteinuria, Postnatal growth retardation, Intrauterine growth retardation, Multipl... ORPHA:2728
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy ORPHA:834
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ... ORPHA:436271
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Short stature, Proteinuria, Increased urinary O... OMIM:256550
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Intrauterine growth retardation, Nephrotic range proteinuria, Small for gestat... ORPHA:1830
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Cerebral cortical atrophy, Methylmalonic aciduria, Homocystinuria, Nephropathy... OMIM:277400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Renal s... OMIM:613845
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Renal hypoplasia, Proteinuria, G... OMIM:614376
Mu-Heavy Chain Disease
Weight loss, Nephropathy, Bence Jones Proteinuria ORPHA:100024
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Galloway-Mowat Syndrome
Nephrotic syndrome, Short stature, Microcephaly, Nephropathy, Proteinuria, Pachygyria, Intrauteri... ORPHA:2065
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Nephropathy, Proteinuria ORPHA:2774
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Porphyria, Congenital Erythropoietic
Pink urine, Short stature OMIM:263700
Hepatoerythropoietic Porphyria
Red urine, Purple urine, Red-brown urine ORPHA:95159
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Leukoencephalopathy, Failure to thrive, Aminoaciduria, Glycosuria, Ren... OMIM:220110
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Leiomyomatosis, Diffuse, With Alport Syndrome
Failure to thrive, Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular baseme... OMIM:308940
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Donnai-Barrow Syndrome
Macrocephaly, Proteinuria, Aplasia/Hypoplasia of the corpus callosum ORPHA:2143
Proximal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Growth delay, Aminoaciduria, Mild postnatal growth retardatio... ORPHA:47159
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Lcat Deficiency
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... ORPHA:650
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Mirizzi Syndrome
Dark urine ORPHA:521219
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Cerebral atrophy, Diffuse mesangial sclerosis, Small for gestational age, Sho... OMIM:251300
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Distal Limb Deficiencies-Micrognathia Syndrome
Macrocephaly, Short stature, Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Aminoaciduria, Glycosuria, Ab... ORPHA:411634
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational age, Unilatera... ORPHA:2260
Wild Type Attr Amyloidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Weight loss ORPHA:330001
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... OMIM:120330
Myh9-Related Disease
Renal insufficiency, Nephropathy, Nephritis, Proteinuria ORPHA:182050
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Porphyrinuria, Purple urine, Red-brown urine ORPHA:79277
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, ... ORPHA:251004
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Anuria, Stage 5 chronic kidney disease, Hemolytic-ur... OMIM:612925
Heme Oxygenase 1 Deficiency
Nephritis, Growth delay, Hematuria, Proteinuria OMIM:614034
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Short stature, Low-molecular-we... OMIM:300554
Majeed Syndrome
Failure to thrive, Cachexia, Proteinuria, Glomerulopathy, Weight loss, Microscopic hematuria ORPHA:77297
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Distal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Growth delay, Aminoaciduria, Decreased glomerular filtration ... ORPHA:18
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Renal Fanconi syndrome, Large for gestational age, Proteinuria, Increased body weight ORPHA:263455
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Focal T2 hyperintense basal ganglia lesion, Tubuloint... ORPHA:255249
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Small for gestational age, Disproportionate short-trunk short stature, Focal ... OMIM:242900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Elevated urinary epinephrine, Ele... ORPHA:276621
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia, Microcephaly, Renal insufficiency, Proteinuria OMIM:610965
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Basal ganglia calcificati... OMIM:146255
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Pseudo-Torch Syndrome 3
Cerebral calcification, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Acute k... OMIM:618886
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... ORPHA:63
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Severe Oculo-Renal-Cerebellar Syndrome
Short stature, Aplasia/Hypoplasia of the cerebellum, Proteinuria, Renal insufficiency, Glomerulop... ORPHA:2715
Cystinosis, Nephropathic
Cerebral calcification, Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in inf... OMIM:219800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Failure to thrive, Short stature, Hyperechogenic kidneys, Neonatal death, Renal insuf... OMIM:619534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612922
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612926
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Diffuse cerebral... OMIM:607426
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Diffuse Alveolar Hemorrhage
Weight loss, Hematuria, Proteinuria ORPHA:90060
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Failure to thrive, Growth delay, Aminoaciduria, Glycosuria, Low-molecu... ORPHA:411629
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Cerebral calcification, Microcephaly, Enlar... OMIM:617303
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Fabry Disease
Renal insufficiency, Proteinuria, Delayed puberty, Lipiduria, Urinary mulberry cells OMIM:301500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria, Growth delay OMIM:231530
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Donnai-Barrow Syndrome
Macrocephaly, Non-acidotic proximal tubulopathy, Partial agenesis of the corpus callosum, Protein... OMIM:222448
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Weight loss, Proteinuria, Elevated ur... ORPHA:29072
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Nephrotic syndrome, Microcephaly, Cerebellar hypoplasia, Cerebellar vermis hyp... OMIM:212065
Cryoglobulinemic Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:91138
Martin-Probst Syndrome
Chordee, Micropenis, Short stature, Microcephaly, Renal insufficiency, Proteinuria OMIM:300519
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria, Secondary microcephaly, Hypoplasia of the corpus callosum OMIM:619685
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Myoglobinuria, Acute kidney injury ORPHA:57
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... ORPHA:93110
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Abnormality of the kidney, Membranopro... ORPHA:91139
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... OMIM:301050
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia ORPHA:86843
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:36412
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia ORPHA:514
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Proteinuria, ... ORPHA:85443
Cockayne Syndrome Type 1
Failure to thrive, Basal ganglia calcification, Renal insufficiency, Proteinuria, Postnatal growt... ORPHA:90321
Spondyloenchondrodysplasia
Chronic kidney disease, Short stature, Cerebral calcification, Hematuria, Disproportionate short-... ORPHA:1855
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Tubulointerstitial nephritis, Proteinuria, Renal insufficiency, Glomerulopathy, Weight... ORPHA:183
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... ORPHA:93126
Melas
Failure to thrive, Cerebral cortical atrophy, Basal ganglia calcification, Short stature, Aplasia... ORPHA:550
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Focal hypointensity of cerebral white matter on MRI, Cerebral calcification, Nephropathy, Abnorma... ORPHA:247691
Cockayne Syndrome B
Failure to thrive, Severe short stature, Cerebral atrophy, Basal ganglia calcification, Micropeni... OMIM:133540
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal periventricular white matter morphology, Hematuria, Proteinuria OMIM:192315
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine OMIM:171420
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Chronic kidney disease, Nephropathy, Hematuria, Proteinuria, Weight loss, Stag... ORPHA:1018
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Glycogen Storage Disease Ia
Nephrolithiasis, Decreased glomerular filtration rate, Short stature, Enlarged kidney, Focal segm... OMIM:232200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myoglobinuria, Dicarboxylic aciduria, Proportionate short stature, Intrauterin... ORPHA:71212
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Macrocephaly, Cerebral cortical atrophy, Aminoaciduria, Hypospadias, Polymicro... OMIM:214100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Microcephaly, Exercise-induced myoglobinuria OMIM:201475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Renal Nutcracker Syndrome
Hematuria, Proteinuria, Weight loss, Microscopic hematuria, Renal artery stenosis ORPHA:71273
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss, Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Renal tubular acidosis, Short stature, Myoglobinuria, Increased bod... ORPHA:79240
Aapoaiv Amyloidosis
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... ORPHA:439232
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss, Proteinuria ORPHA:35858
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Renal tubular acidosis, Short stature, Myoglobinuria, Delayed pu... ORPHA:264580
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Myoglobinuria, Small for gestational age OMIM:609015
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Tubulointerstitial nephritis, Proteinuria,... ORPHA:33001
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Cerebral cortical atrophy, Unilateral renal agenesis, Abnormality of the kidney,... OMIM:137920
Cockayne Syndrome
Cerebral dysmyelination, Nephrotic syndrome, Severe short stature, Cerebral atrophy, Basal gangli... ORPHA:191
Nail-Patella Syndrome
Nephrotic syndrome, Short stature, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis OMIM:161200
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria ORPHA:549
Thrombotic Thrombocytopenic Purpura, Hereditary
Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology OMIM:274150
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity, Nephroblastoma, Proteinuria OMIM:612469
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Cockayne Syndrome A
Failure to thrive, Cerebral atrophy, Basal ganglia calcification, Micropenis, Short stature, Seve... OMIM:216400
Gaucher Disease Type 1
Delayed puberty, Growth delay, Hematuria, Proteinuria ORPHA:77259
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Renal tubular acidosis, Myoglobinuria, Delayed puberty, Growth delay ORPHA:370
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, ... ORPHA:99885
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Aminoaciduria, Short stature, Proximal renal tubular acidosis, Renal Fanconi s... OMIM:309000
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Absent plat... OMIM:608233
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Cerebral calcification, Heparan sulfate excretion in urine, Enlarged kidney, ... ORPHA:505248
Glycogen Storage Disease Ib
Nephrolithiasis, Decreased glomerular filtration rate, Short stature, Enlarged kidney, Focal segm... OMIM:232220
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Cornelia De Lange Syndrome 1
Intrauterine growth retardation, Reduced renal corticomedullary differentiation, Short stature, H... OMIM:122470
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Pearson Syndrome
Growth delay, Small for gestational age, Microcephaly, Glycosuria, Renal cyst, Renal insufficienc... ORPHA:699
Insulin-Resistance Syndrome Type B
Decreased body weight, Nephritis, Glycosuria, Proteinuria, Increased body weight, Weight loss, Ab... ORPHA:2298
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:86818
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased body weight, Decreased glomerular filtration rate, Glomerulonep... ORPHA:340
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Microcephaly, Ketonuria, Myoglobinuria, Cerebral atrophy OMIM:616878
Gitelman Syndrome
Failure to thrive, Renal tubular acidosis, Cerebral calcification, Nocturia, Focal segmental glom... ORPHA:358
Nail-Patella Syndrome
Nephrotic syndrome, Nephritis, Abnormality of the kidney, Hematuria, Thickened glomerular basemen... ORPHA:2614
Holoprosencephaly
Macrocephaly, Hypoplasia of penis, Abnormality of the urinary system, Microcephaly, Aplasia/Hypop... ORPHA:2162
Hellp Syndrome
Hemoglobinuria, Increased body weight, Acute kidney injury, Proteinuria ORPHA:244242
Malakoplakia
Dysuria, Urinary urgency, Hematuria, Urinary hesitancy, Proteinuria, Urinary bladder inflammation ORPHA:556
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria OMIM:232800
Systemic Sclerosis
Chronic kidney disease, Abnormality of the kidney, Renal insufficiency, Proteinuria, Acute kidney... ORPHA:90291
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... OMIM:301074
Orofaciodigital Syndrome I
Cerebral atrophy, Short stature, Microcephaly, Abnormal cortical gyration, Polycystic kidney dysp... OMIM:311200
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Aminoaciduria, Glycosuria, Hypercalciuria, Proteinuri... OMIM:277900
Aymé-Gripp Syndrome
Cerebral cortical atrophy, Short stature, Hypoplasia of the corpus callosum, Proteinuria, Postnat... ORPHA:1272
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Short stature, Renal cyst, Proteinuria, Renal insufficiency OMIM:208500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Failure to thrive, Short stature, Tubulointerstitial fibrosis, Enlarged kidney, ... ORPHA:79259
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... ORPHA:567546
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Lysinuric Protein Intolerance
Argininuria, Failure to thrive, Oroticaciduria, Decreased glomerular filtration rate, Abnormal re... ORPHA:470
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Pierson Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Microcephaly, Hyperechogenic kidneys, Proteinuri... OMIM:609049
Pheochromocytoma
Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis OMIM:171300
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Failure to thrive, Oligosacchariduria, Aminoaciduria, Short stature, Abnormal re... ORPHA:534
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Glycogen Storage Disease Ic
Decreased glomerular filtration rate, Hematuria, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:232240
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Abnormal ... ORPHA:221139
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Fabry Disease
Nephrotic syndrome, Short stature, Abnormal renal tubule morphology, Nephropathy, Hematuria, Prot... ORPHA:324
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Bardet-Biedl Syndrome 20
Obesity, Proteinuria, Micropenis OMIM:619471
Gaucher Disease Type 3
Delayed puberty, Growth delay, Hematuria, Proteinuria ORPHA:77261
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Lymphatic Filariasis
Nephrotic syndrome, Urethral obstruction, Abnormality of the kidney, Hematuria, Proteinuria, Glom... ORPHA:2035
Cocaine Intoxication
Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Proteinuria, Glomerulonephritis, Is... ORPHA:90068
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Growth delay, Proportionate short stature, Moderate albuminuria, Hydronephrosis, Obesity OMIM:619269
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Neuroleptic Malignant Syndrome
Acute kidney injury, Myoglobinuria, Proteinuria, Urinary incontinence ORPHA:94093
Granulomatosis With Polyangiitis
Ureteral stenosis, Hematuria, Proteinuria, Renal insufficiency, Hydronephrosis, Glomerulopathy, W... ORPHA:900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Microcephaly, Fo... OMIM:614748
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Glomerulonephritis, Weight loss... ORPHA:48435
Glycogen Storage Disease Xii
Hemoglobinuria, Delayed puberty, Short stature OMIM:611881
Immunoglobulin A Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:761
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Moderate albuminuria, Sim... OMIM:614231
Relapsing Polychondritis
Hematuria, Proteinuria, Renal insufficiency, Glomerulopathy, Biparietal narrowing ORPHA:728
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Agenesis of corpu... ORPHA:2750
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Hemoglobinuria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Renal in... ORPHA:447
Goodpasture Syndrome
Cylindruria, Macroscopic hematuria, Glomerular crescent formation, Renal insufficiency, Proteinur... OMIM:233450
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Aminoaciduria, Decreased glomerular filtration rate, Sterile pyuria,... ORPHA:91500
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Postnatal growth retardation, Proteinuria, Short stature OMIM:619127
Williams Syndrome
Proteinuria, Failure to thrive in infancy, Nephrolithiasis, Bladder diverticulum, Hypoplasia of p... ORPHA:904
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Familial Mediterranean Fever
Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:342
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Gaucher Disease
Delayed puberty, Hematuria, Proteinuria, Short stature ORPHA:355
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Oliguria, Acute kidney injury, Decreased urine output, Anuria ORPHA:544482
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... OMIM:619381
Kawasaki Disease
Sterile pyuria, Proteinuria ORPHA:2331
Crimean-Congo Hemorrhagic Fever
Hematuria, Proteinuria ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albu... OMIM:619525
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Abnormal penis morphology, Hematuria, Moderate albuminuria, Acute kidney injury, Renal t... ORPHA:95455
Pmm2-Cdg
Failure to thrive, Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts, Ce... 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