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Gene: Trpv1 MGI:1341787

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
transient receptor potential cation channel, subfamily V, member 1
Synonyms:
VR-1,  OTRPC1,  capsaicin receptor,  Vr1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Trpv1 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 Trpv1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever, Recurrent bacterial skin infections ORPHA:183713
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:613496
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... ORPHA:66624
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Abnormal repetitive manneris... OMIM:618347
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Confusion, Dementia OMIM:261100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ... OMIM:619428
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomy... OMIM:620270
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Co... OMIM:300555
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Pneumonia, Progressive neurologic deterioration, Skin rash, Depression, Memory impai... ORPHA:247691
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Chronic Recurrent Multifocal Osteomyelitis 3
Fever, Palmoplantar pustulosis, Osteomyelitis OMIM:259680
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Dys... OMIM:607426
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Amyloidosis, Familial Visceral
Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Confusion, Hematuria, Acute kidney injury ORPHA:54057
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Progressive neurologic deterioration ORPHA:1192
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Pneumonia, Myocarditis, Pancreatitis, ... ORPHA:544482
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati... OMIM:619487
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Heme Oxygenase 1 Deficiency
Hematuria, Increased circulating interleukin 6 concentration, Nephritis, Proteinuria OMIM:614034
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Increased circu... ORPHA:69126
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis ORPHA:375
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Attention deficit... ORPHA:261222
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... ORPHA:93552
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Increas... OMIM:617303
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... ORPHA:3077
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level OMIM:215250
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Stage 5 chronic kidney disease, ... OMIM:242900
Preeclampsia
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney ORPHA:275555
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains OMIM:619858
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Schimke Immuno-Osseous Dysplasia
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... ORPHA:1830
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Abnormalit... ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Acute Lung Injury
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Addictive alcoh... ORPHA:178320
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Irritability, Proteinuria, Abnormality of the kidney ORPHA:369
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid... ORPHA:33543
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Tremor, Increased body weight, Hyperhidrosis, Agitation ORPHA:276608
Mu-Heavy Chain Disease
Nephropathy, Increased circulating antibody level, Bence Jones Proteinuria ORPHA:100024
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Glycogen Storage Disease Ia
Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Decreased glomerular filt... OMIM:232200
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Melas
Short attention span, Proteinuria, Depression, Memory impairment, Focal segmental glomerulosclero... ORPHA:550
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Increased urinary porphobili... ORPHA:100924
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Progressive psychomotor deterioration, Mac... ORPHA:251004
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyphagia ORPHA:411515
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammation of the large... OMIM:232220
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco... OMIM:613404
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Emotional lability, Abnormal renal physiology OMIM:223900
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Polydips... ORPHA:213
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Allodynia, Anorexia, Decreased body weight ORPHA:51890
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Pediatric-Onset Graves Disease
Hyperactivity, Atrial fibrillation, Tremor, Congestive heart failure, Hyperhidrosis, Hypertension... ORPHA:525731
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Episodic hyperhidrosis, Syncope, Agitation, Palpitations,... ORPHA:276556
Familial Cold Urticaria
Dysesthesia, Polydipsia, Hyperhidrosis ORPHA:47045
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Co... ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Dysp... ORPHA:368
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Gout, Hematuria, Focal segmental glomerul... OMIM:232240
Cerebrotendinous Xanthomatosis
Ataxia, Angina pectoris, Myocardial infarction, Pseudobulbar paralysis, Abnormality of central so... OMIM:213700
Phosphoglycerate Kinase 1 Deficiency
Emotional lability, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Igg4-Related Pachymeningitis
Sinusitis, Confusion, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Mental deterior... ORPHA:449427
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic... ORPHA:488627
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... ORPHA:91138
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Nephrotic syndrome, Increased circulating IgG level, Increased c... OMIM:603909
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Progressive forgetfulness, Hematuria, Diminished ability to concentrate, Dementia OMIM:192315
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Episodic hyperhidrosis, Syncope, Agitation, Palpitations,... ORPHA:276575
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Abnormality of neuro... ORPHA:163681
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Progressive neurologic deterioration, Renal Fanconi syndrome, Agitation, Glycosuria ORPHA:263455
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar... ORPHA:36412
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Confusion, Hemolytic-uremic syndrome, Cystathioninuria, Methylm... OMIM:277400
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hypo... OMIM:301500
Wagro Syndrome
Proteinuria, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Emo... OMIM:612469
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Large for gestational age, Episodic hyperhidrosis, Syncope, Agitation, Palpitations,... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Large for gestational age, Episodic hyperhidrosis, Syncop... ORPHA:324575
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In... ORPHA:158061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ... ORPHA:77297
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... ORPHA:85450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, EEG ab... OMIM:182290
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Polyphagia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Confu... ORPHA:340
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Insulinoma
Tremor, Increased body weight, Hyperhidrosis, Paresthesia, Palpitations, Abnormality of pain sens... ORPHA:97279
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Confusion, Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal renal physiology OMIM:274150
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Myocarditis, Hepatitis, Endocarditis, H... ORPHA:549
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, Tubulointerst... ORPHA:358
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Bulimia, Obesity, Mitral regurgitation, Pulmonary arterial hype... OMIM:614651
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Tyrosinemia, Type I
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... OMIM:276700
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Cognitive impairment ORPHA:2065
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Joubert Syndrome 32
Ataxia, Large for gestational age, Hypertrophic cardiomyopathy, Polymicrogyria, Tall stature OMIM:617757
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys OMIM:613845
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure OMIM:265400
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Lysinuric Protein Intolerance
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Decreased circulating antibody level,... ORPHA:470
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Cachexia, Anorexia, Myo... ORPHA:3452
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... ORPHA:3243
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Athetosis, Hypertension, Second degree atrioventricular block... ORPHA:369929
Obesity Due To Sim1 Deficiency
Obesity, Hypotension, Attention deficit hyperactivity disorder, Postural hypotension with compens... ORPHA:369873
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria ORPHA:330001
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Alstrom Syndrome
Renal insufficiency, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis,... OMIM:203800
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the urinary system phys... ORPHA:2552
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity, Hand tremor ORPHA:589905
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Depression, Dementia, Cognitive impairment, Emotional lab... ORPHA:101096
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis OMIM:217090
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Angelman Syndrome Due To A Point Mutation
Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, EEG abnormality, Inappropriate laugh... ORPHA:411511
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Progressive neurologic deteriorati... OMIM:219800
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Heart murmur, Mitral regurgitation, S... ORPHA:1330
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, EEG with abnormally slow frequencies, To... ORPHA:98794
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Anorexia, Pustule, Orc... ORPHA:761
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis ORPHA:403
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Gaucher Disease Type 1
Proteinuria, Anorexia, Osteoarthritis, Hematuria, Increased circulating antibody level ORPHA:77259
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Agel Amyloidosis
Deficit in phonologic short-term memory, Proteinuria, Stage 5 chronic kidney disease, Depression,... ORPHA:85448
Pseudo-Torch Syndrome 3
Lymphadenitis, Acute kidney injury, Proteinuria OMIM:618886
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, ... ORPHA:91500
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... ORPHA:556
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Depression, Hematuria, Arthr... ORPHA:536
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Lead Poisoning
Skin rash, Anorexia, Chronic kidney disease, Increased circulating IgE level, Depression, Renal t... ORPHA:330015
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os... ORPHA:90291
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Complex Regional Pain Syndrome
Abnormality of hair growth, Allodynia ORPHA:83452
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia ORPHA:251274
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Insulin-Resistance Syndrome Type B
Proteinuria, Pneumonia, Skin rash, Increased circulating IgA level, Osteoarthritis, Increased cir... ORPHA:2298
Pure Mitochondrial Myopathy
Fatigable weakness of bulbar muscles, Fatigable weakness of swallowing muscles, Fatigable weaknes... ORPHA:254854
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Paresthesia, Palpitations, ... OMIM:263800
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Aggressive behavior, Malformation of the hepa... ORPHA:84081
Septo-Optic Dysplasia Spectrum
Polydipsia, Anosmia, Obesity, Hypohidrosis ORPHA:3157
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Agitation, Man... ORPHA:90068
Wilson Disease
Hyperphosphaturia, Proteinuria, Osteoarthritis, Atypical or prolonged hepatitis, Nephrolithiasis,... OMIM:277900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Bardet-Biedl Syndrome 17
Hyposmia, Polydipsia, Anosmia, Obesity OMIM:615994
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Aspira... ORPHA:1018
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Ochoa Syndrome
Hypertension, Polydipsia ORPHA:2704
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Irritability, Mild proteinuria OMIM:619685
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... ORPHA:2035
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris ORPHA:140905
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Hypovolemia, Anorexia ORPHA:223
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Depression, Hematuria, Nephrotic synd... ORPHA:324
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Scarring, Hepatocellular carcinoma, Portal inflam... ORPHA:101330
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Decreased circul... OMIM:212065
Ohdo Syndrome
Proteinuria OMIM:249620
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Hepatic Lipase Deficiency
Angina pectoris OMIM:614025
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Spondyloenchondrodysplasia
Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... ORPHA:1855
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... ORPHA:505248
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Fish-Eye Disease
Angina pectoris ORPHA:79292
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Hypertension, Dysdiadochokinesis, Polydipsia, Intention tremor OMIM:612780
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... ORPHA:342
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Erdheim-Chester Disease
Ataxia, Congestive heart failure, Hyperhidrosis, Weight loss, Polydipsia ORPHA:35687
Glycogen Storage Disease Vii
Hematuria, Gout, Exercise-induced myoglobinuria OMIM:232800
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... ORPHA:533
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... ORPHA:139402
East Syndrome
Polydipsia, Salt craving, Ataxia, Action tremor ORPHA:199343
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Gout, Nephrocalcinosis, Enterocolit... ORPHA:79259
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Agitation, Aspiration pneumonia, Dysphagia, Myoglobinuria, Acu... ORPHA:94093
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Proteinuria, Multiple bladder diverticula ORPHA:2728
Hurler Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Hypertension, Angina pectoris ORPHA:93473
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Oculocerebrorenal Syndrome Of Lowe
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Compulsive behaviors, Chronic... ORPHA:534
Ogden Syndrome
Global glomerulosclerosis, Eczema, Irritability, Polycystic kidney dysplasia, Dysphagia, Recurren... OMIM:300855
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Gaucher Disease Type 3
Hematuria, Dementia, Proteinuria, Increased circulating antibody level ORPHA:77261
Neurotrophic Keratopathy
Allodynia, Corneal scarring ORPHA:137596
Zygomycosis
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... ORPHA:73263
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski... ORPHA:900
Primary Unilateral Adrenal Hyperplasia
Hypertension, Polydipsia, Palpitations, Epistaxis ORPHA:231580
Apparent Mineralocorticoid Excess
Hypertension, Polydipsia, Failure to thrive ORPHA:320
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney, Attention deficit hyperactivit... ORPHA:459061
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Tall stature ORPHA:109
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... OMIM:122470
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Irritabi... ORPHA:2331
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Confusion ORPHA:71212
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Renal Nutcracker Syndrome
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, Elevated diastolic bloo... ORPHA:90041
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Secondary Non-Traumatic Avascular Necrosis
Abnormality of connective tissue, Addictive alcohol use ORPHA:399180
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Trigeminal Neuralgia
Allodynia ORPHA:221091
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Pancreatitis OMIM:251000
Benign Schwannoma
Abnormality of the liver, Allodynia, Abnormality of peripheral nervous system electrophysiology ORPHA:252164
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Brain-Lung-Thyroid Syndrome
Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Abnormal drinking behavior, Choreoatheto... ORPHA:209905
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Proteinuria, Confusion, Anorexia, Erythema nodosum, Myocarditis, Orchitis, Ep... ORPHA:99827
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria OMIM:201475
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polydipsia OMIM:613677
Dysbetalipoproteinemia
Angina pectoris, Obesity ORPHA:412
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Chordee, Proteinuria OMIM:300519
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... ORPHA:289390
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Cockayne Syndrome Type 1
Conjunctivitis, Renal insufficiency, Proteinuria, Uveitis ORPHA:90321
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Dysphagia, Renal cortical microcysts, Hydronephrosis OMIM:214100
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Peritonitis, Hemoglobinuria, Irritability, Acute kidney injury, Pancreatitis, Acute colitis ORPHA:90038
Apolipoprotein A-I Deficiency
Angina pectoris ORPHA:425
Nephronophthisis 1
Hypertension, Polydipsia OMIM:256100
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hepatomegaly, Polydipsia, Failure to thrive OMIM:239200
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis ORPHA:35858
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria, Oral-pharyngeal dysphagia OMIM:616878
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder OMIM:274300
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive OMIM:125800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive OMIM:304800
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Dysphagia, Hemoglobinu... ORPHA:447
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Weight loss, Dysphagia, Lipoma, Polydipsia, Pancreatitis, Chondrocalci... ORPHA:143
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Thick hair, Low anterior hairline, Premature graying of hair... ORPHA:769
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Polydipsia, Ataxia ORPHA:3463
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... ORPHA:731
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Acquired Generalized Lipodystrophy
Acute pancreatitis, Panniculitis, Proteinuria ORPHA:79086
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Tremor, Shortened PR interval, Obesity, Weight loss, Hyperhidrosis, Impair... ORPHA:79102
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sudden cardiac death, Weight loss, Dysphagia, Polydipsia ORPHA:537
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis OMIM:614582
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Nephronophthisis 3
Polydipsia, Hepatic fibrosis OMIM:604387
Gaucher Disease
Osteomyelitis, Proteinuria, Osteoarthritis, Hepatitis, Depression, Hematuria, Increased circulati... ORPHA:355
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Weight loss, Dysphagia, Slender build, Allodynia OMIM:603041
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Hepatitis OMIM:194380
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Absent specific antibody response, Inflammatory abnormality of the s... OMIM:102700
Isolated Osteopoikilosis
Keloids, Addictive alcohol use ORPHA:166119
Herpes Simplex Virus Encephalitis
EEG abnormality, Addictive alcohol use ORPHA:1930
Adrenocortical Carcinoma
Increased body weight, Hyperhidrosis, Weight loss, Hypertension, Palpitations ORPHA:1501
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Dysphagia, Lipoma, Polydipsia, Pancreatitis, Chondrocalcinosis ORPHA:99880
Panhypophysitis
Polydipsia, Orthostatic hypotension ORPHA:95513
Teratoma, Pineal
Polydipsia OMIM:273120
Nephronophthisis 11
Polydipsia, Hepatic fibrosis OMIM:613550
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Abdominal obesity, Increased body weight OMIM:615954
Helix Syndrome
Anhidrosis, Polydipsia, Hypohidrosis OMIM:617671
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:79240
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... ORPHA:90349
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria, Pancreatitis OMIM:619471
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Bicarbonaturia, Proximal renal tubul... OMIM:309000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Impaired pain sensation, Obesity, Hypohidrosis, Self-injurious behavior, Com... ORPHA:293987
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Impaired temperature sensation, Increased body weight, Abdominal obesity, Compulsive... ORPHA:398069
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia ORPHA:565612
Holoprosencephaly
Hypoplasia of penis, Abnormality of the urinary system, Proteinuria, Cognitive impairment ORPHA:2162
Marchiafava-Bignami Disease
Addictive alcohol use, Aggressive behavior ORPHA:221074
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:264580
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressiv... ORPHA:353281
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Dysphagia, Glycosuria ORPHA:699
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Cockayne Syndrome A
Renal insufficiency, Micropenis, Dementia, Proteinuria OMIM:216400
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis ORPHA:2750
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Sotos Syndrome
Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... OMIM:117550
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Increased body weight OMIM:615830
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Methanol Poisoning
Addictive alcohol use ORPHA:31825
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Compulsive behavio... ORPHA:904
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Decreased circul... ORPHA:227990
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Low-to-normal blood pressure, Paresthesia, Polydipsia, Failure to thrive OMIM:241200
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Decreased circul... ORPHA:227982
Glycogen Storage Disease Xii
Hemoglobinuria, Cholecystitis OMIM:611881
Nephronophthisis 4
Polydipsia OMIM:606966
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Hypomagnesemia 3, Renal
Polydipsia, Failure to thrive OMIM:248250
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Cirrhotic Cardiomyopathy
Hepatomegaly, Jaundice, Addictive alcohol use, Cirrhosis ORPHA:57777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... ORPHA:353277
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms, Proteinuria OMIM:616682
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hypertension, Abdominal obesity, Increased body weight ORPHA:189427
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Lacticaciduria, Depression, Tubulointerstitial nephritis, Aminoaciduria, Emotional l... OMIM:124000
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use ORPHA:36238
Cushing Disease
Myocardial infarction, Fatiguable weakness of proximal limb muscles, Increased body weight, Trunc... ORPHA:96253
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use ORPHA:90065
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... ORPHA:79078
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... OMIM:619525
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Myocardial infarction, Fatiguable weakness of proximal limb muscles, Increased body wei... ORPHA:99889
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Sarcoidosis
Renal insufficiency, Maculopapular exanthema, Erythema nodosum, Nephrolithiasis, Hypercalciuria, ... ORPHA:797
Ethylene Glycol Poisoning
Addictive alcohol use ORPHA:31826
Pmm2-Cdg
Pericarditis, Angina pectoris, Ataxia, Intracranial hemorrhage, Hypertrophic cardiomyopathy, Fail... ORPHA:79318
Carney Complex
Congestive heart failure, Increased body weight, Hypertension, Abdominal obesity, Tall stature ORPHA:1359

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 Trpv1

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 Trpv1.

No publications found that use IMPC mice or data for Trpv1.

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
Trpv1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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