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

IMPC Data Collections

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

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.

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
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Severe Primary Trimethylaminuria
Trimethylaminuria, Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low se... ORPHA:468726
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections, Fever ORPHA:183713
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Decreased specific pneumococca... OMIM:617006
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Focal segmental glomeruloscler... OMIM:618349
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Irritability, Foam... ORPHA:656
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Cognitive impairment, Chronic kidney disease, Nephropathy, Gout, Focal segmental glom... OMIM:617056
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Immunodeficiency, Common Variable, 6
Enlarged kidney, Chronic decreased circulating total IgG, Complete or near-complete absence of sp... OMIM:613496
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Paraproteinemia, Mesangial hyperc... ORPHA:329918
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis, Paroxysmal bursts of laughter OMIM:618347
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Mental deterioration, S... OMIM:617575
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Glomerular sclerosis, Congenital nephrotic syndrome, Proteinuria, Re... OMIM:256300
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cognitive impairment, Glomerular sclerosis, Memory impairment, Pneumonia, Proteinuria, Anxiety, A... ORPHA:247691
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, E... OMIM:618348
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Dent Disease 2
Nephrocalcinosis, Cognitive impairment, Proximal tubulopathy, Hypercalciuria, Chronic kidney dise... OMIM:300555
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Imerslund-Grasbeck Syndrome 1
Dementia, Proteinuria OMIM:261100
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insufficiency, Focal segme... ORPHA:347
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Acute kidney injury, Proteinuria, Decreased glomerular filtration rate, Scl... ORPHA:93126
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Renal tubular atrophy, Nephritis, Nephropathy, Renal insuff... OMIM:162000
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Palmoplantar pustulosis, Fever OMIM:259680
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Panic attack, Elevated u... ORPHA:276621
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Nephropathy, Skin rash OMIM:105200
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Nephrotic ... ORPHA:91139
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Progressive neurologic deterioration, Nephropathy, Proteinuria ORPHA:1192
Aapoaiv Amyloidosis
Glomerular sclerosis, Paraproteinemia, Proteinuria, Renal amyloidosis, Renal interstitial amyloid... ORPHA:439232
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Oliguria, Pneumonia, Decreased urine output, A... ORPHA:544482
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Glomerular sclerosis, Chilblains, Proteinuria, Micropenis, Thickened glomerul... OMIM:619487
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Proteinuria, Increased inflammatory response, Acne, Increased circulat... ORPHA:69126
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Panic attack, Elevated u... ORPHA:29072
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Proteinuria, Abnormal immunoglobulin level, Renal insufficiency, Focal segmen... OMIM:242900
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Pandas
Abnormal fear/anxiety-related behavior, Enuresis, Emotional lability, Irritability, Separation in... ORPHA:66624
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Nephrotic syndrome, Proteinuria, Increased circulating IgM ... OMIM:617303
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Pediatric Systemic Lupus Erythematosus
Cognitive impairment, Nephrotic syndrome, Myositis, Hematuria, Proteinuria, Nephritis, Abnormalit... ORPHA:93552
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level, Nephrotic syndrome OMIM:215250
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pr... OMIM:619609
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria ORPHA:54057
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Proteinuria ORPHA:275555
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Schimke Immuno-Osseous Dysplasia
Proteinuria, Microscopic hematuria, Nephropathy, Pancreatitis, Nephrotic range proteinuria, Stage... ORPHA:1830
Fanconi Renotubular Syndrome 1
Glycosuria, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Renal insuffic... OMIM:134600
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria OMIM:166300
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:540
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Nephropathy, Stage 5 chronic kid... OMIM:194080
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria, Stage 5 chroni... ORPHA:567546
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Nephritis OMIM:609057
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617729
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Melas
Memory impairment, Recurrent pancreatitis, Proteinuria, Proximal tubulopathy, Anxiety, Dementia, ... ORPHA:550
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:619603
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Irritability, Abnormality of the kidney, Proteinuria ORPHA:369
Mu-Heavy Chain Disease
Increased circulating antibody level, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Renal tubular epithelial necrosis, ... ORPHA:228302
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Dementia, Os... OMIM:277900
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Pancreatitis... OMIM:232200
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Pancreatitis... OMIM:232220
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Phosphoglycerate Kinase 1 Deficiency
Emotional lability, Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Stag... ORPHA:650
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membranous nephropathy, Renal interstitial i... ORPHA:449395
Heme Oxygenase 1 Deficiency
Nephritis, Hematuria, Proteinuria OMIM:614034
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Chronic tubulointerstitial nephritis, Stage 5 ... OMIM:614376
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Anterior uveitis, Panuveitis, Re... OMIM:607665
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Cerebrotendinous Xanthomatosis
EEG with generalized slow activity, Pseudobulbar paralysis, Myocardial infarction, Ataxia, Angina... OMIM:213700
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Thickened glomerular basement membrane, Abnormal renal physiology, Nephro... OMIM:308940
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Cryoglobulinemic Vasculitis
Viral hepatitis, Hematuria, Proteinuria, Keratoconjunctivitis sicca, Glomerulopathy, Renal insuff... ORPHA:91138
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Progressive psychomotor deterioration, Membr... ORPHA:251004
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Hypocomplementemic Urticarial Vasculitis
Uveitis, Hematuria, Proteinuria, Arthritis, Inflammatory abnormality of the eye, Episcleritis, Gl... ORPHA:36412
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Fabry Disease
Hypohidrosis, Arrhythmia, Congestive heart failure, Myocardial infarction, Paresthesia, Transient... OMIM:301500
Glycogen Storage Disease Ic
Hematuria, Proteinuria, Decreased glomerular filtration rate, Chronic pancreatitis, Renal insuffi... OMIM:232240
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Tremor, Increased body weight, Hyperhidrosis ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypertrophic cardiomyopathy, Palpitations, Episodic hyperhidrosis, Pol... ORPHA:276556
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Chro... OMIM:146255
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612926
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Renal insufficie... OMIM:276700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Increased circulating IgG level, Increased circulating IgM level, Increased c... OMIM:603909
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... ORPHA:436271
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Dementia, Progressive forgetfulness, Hematuria, Proteinuria OMIM:192315
Familial Cold Urticaria
Polydipsia, Dysesthesia, Hyperhidrosis ORPHA:47045
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Renal dysplasia, Abnormalit... ORPHA:158684
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, EEG abnormality, Ataxia ORPHA:411515
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Chronic kidney disease, Tu... ORPHA:488627
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Majeed Syndrome
Proteinuria, Acne, Osteomyelitis, Glomerulopathy, Synovitis, Microscopic hematuria, Inflammatory ... ORPHA:77297
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Nocturia, Renal interstiti... ORPHA:85450
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria OMIM:230400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypertrophic cardiomyopathy, Palpitations, Episodic hyperhidrosis, Pol... ORPHA:276575
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Polydipsia, Tremor, Failure to thrive, Atrial fibril... ORPHA:525731
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:251300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypertrophic cardiomyopathy, Palpitations, Episodic hyperhidrosis, Pol... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Small for gestational age, Palpitations, Episodic hyperhidrosis, Polyp... ORPHA:324575
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Hypertension, Childhood-onset truncal obesity ORPHA:71529
Retinal Venous Beading
Nephritis OMIM:180080
Birk-Landau-Perez Syndrome
Cognitive impairment, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Renal tubular... OMIM:603860
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Homocystinuria, Methylmalonic aciduria, Hemolytic-uremic syndrome, Proteinuria,... OMIM:277400
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidney disease, ... OMIM:300554
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myositis, Hematuria, Proteinuria, Increased inflammatory response, Endocarditis, Tubul... ORPHA:183
Insulinoma
Tremor, Abnormality of pain sensation, Paresthesia, Polyphagia, Palpitations, Increased body weig... ORPHA:97279
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperechogenic kidneys OMIM:613845
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Congestive heart failure, Obesity, Focal EEG discharges with secondary generaliza... ORPHA:3077
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Renal duplication, Proteinuria, Tubulointerstitial nephritis, Glomerul... ORPHA:33001
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Renal Fanconi syndrome, Progressive neurologic deterioration, Proteinuria ORPHA:263455
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Aminoaciduria OMIM:616026
Galloway-Mowat Syndrome
Cognitive impairment, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Cystinosis
Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropathy, Renal insufficiency ORPHA:213
Genetic Recurrent Myoglobinuria
Oliguria, Myositis, Acute kidney injury, Recurrent myoglobinuria, Fatigable weakness of swallowin... ORPHA:99845
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Mental deterioration, Neph... ORPHA:449427
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Joubert Syndrome 32
Large for gestational age, Hypertrophic cardiomyopathy, Ataxia, Polymicrogyria, Tall stature OMIM:617757
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Myocarditis, Myocardial infarction, Pulmonary arterial hypertension, Transien... ORPHA:464343
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Angina pectoris, Syncope, Right ventricular failure OMIM:265400
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Chronic kidney disease, Dark urine, Recurrent myoglobinuria, Exercise-induce... ORPHA:368
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... OMIM:220110
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Reduced ejection fraction, Arrhythmia, Abnormal left ventricular funct... ORPHA:45452
Legionnaires Disease
Hematuria, Proteinuria, Infectious encephalitis, Endocarditis, Myocarditis, Hepatitis, Pancreatit... ORPHA:549
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Superficial dermal perivascular inflammatory infiltrate, Acute kidney injury, Chronic kidney dise... ORPHA:284426
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Gitelman Syndrome
Renal tubular acidosis, Renal Fanconi syndrome, Decreased urinary potassium, Proteinuria, Renal p... ORPHA:358
Aregenerative Anemia
Cognitive impairment, Abnormality of interleukin secretion, Dementia, Emotional lability, Depress... ORPHA:101096
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Wild Type Attr Amyloidosis
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:330001
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Obesity, Truncal obesity OMIM:615986
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Decreased... ORPHA:542323
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Familial Cutaneous Collagenoma
Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Athetosis, Pulmonary arterial hypertension, Hypertension, P... ORPHA:369929
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Alstrom Syndrome
Recurrent pneumonia, Tubulointerstitial nephritis, Nephritis, Otitis media, Chronic active hepati... OMIM:203800
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Abnormality of the kidney, Thickened glomerular basem... ORPHA:2614
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Juvenile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Proteinuria, Proximal tubulopathy, Chronic kidney disease, Lo... ORPHA:411634
Polycythemia Vera
Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Hypertension, Budd-Chiari s... ORPHA:729
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Multiple glomerular cysts, Decreased numbers o... OMIM:137920
Partial Atrioventricular Septal Defect
Atrial flutter, Atrial arrhythmia, Palpitations, Syncope, Transient ischemic attack, Heart murmur... ORPHA:1330
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Restrictive cardiomyop... OMIM:264800
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria, Deficit in phonologic short-term memory, Keratoconju... ORPHA:85448
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Decreased body weight, Allodynia ORPHA:51890
Malakoplakia
Urinary bladder inflammation, Hematuria, Proteinuria, Dysuria, Orchitis, Urinary hesitancy, Urina... ORPHA:556
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, Chronic k... ORPHA:3337
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Renal Hypodysplasia/Aplasia 1
Renal agenesis, Renal dysplasia, Proteinuria OMIM:191830
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Oroticaciduria, Cognitive impairment, Proteinuria, Hyperlysinur... ORPHA:470
Infantile Nephropathic Cystinosis
Glycosuria, Cognitive impairment, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphospha... ORPHA:411629
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Whipple Disease
Gastrointestinal hemorrhage, Myocardial infarction, Hypotension, Myocarditis, Ataxia, Cachexia, P... ORPHA:3452
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:2715
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Proteinuria OMIM:618886
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Renal tubular atrophy, Ren... OMIM:614748
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Proteinuria, Bilateral renal agenesis, Ureteral agenes... ORPHA:411709
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Oliguria, Acute tubulointerstitial nephritis, ... ORPHA:340
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Arrhythmia, Mucosal telangiectasiae, Bundle branch block, Telangiect... ORPHA:93672
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopath... OMIM:212065
Relapsing Polychondritis
Chondritis of pinna, Pericarditis, Uveitis, Hematuria, Proteinuria, Arthritis, Inflammatory abnor... ORPHA:728
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Weight loss ORPHA:178029
Microsporidiosis
Sinusitis, Myositis, Pneumonia, Lymphadenitis, Cholangitis, Infectious encephalitis, Abnormality ... ORPHA:2552
Familial Hyperaldosteronism Type I
Polydipsia, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Insulin-Resistance Syndrome Type B
Glycosuria, Increased circulating IgG level, Pneumonia, Proteinuria, Increased circulating IgA le... ORPHA:2298
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:157
Pure Mitochondrial Myopathy
Fatigable weakness of swallowing muscles, Fatigable weakness of neck muscles, Fatigable weakness ... ORPHA:254854
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:86818
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria OMIM:171420
Postinfectious Vasculitis
Viral hepatitis, Pneumonia, Hematuria, Proteinuria, Gastrointestinal inflammation, Increased circ... ORPHA:48435
Al Amyloidosis
Nephrotic syndrome, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits, ... ORPHA:85443
Benign Schwannoma
Abnormality of the liver, Allodynia, Abnormality of peripheral nervous system electrophysiology ORPHA:252164
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Polydipsia, Intracranial hemorrhage, Epistaxis ORPHA:251274
Immunoglobulin A Vasculitis
Hematuria, Proteinuria, Orchitis, Infectious encephalitis, Episcleritis, Glomerulopathy, Pustule,... ORPHA:761
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria OMIM:274150
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Alagille Syndrome 1
Renal tubular acidosis, Multiple small medullary renal cysts, Renal hypoplasia, Renal dysplasia, ... OMIM:118450
Systemic Sclerosis
Recurrent skin infections, Acute kidney injury, Proteinuria, Arthritis, Glomerulonephritis, Chron... ORPHA:90291
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria OMIM:210550
Fabry Disease
Abnormal renal tubule morphology, Cognitive impairment, Nephrotic syndrome, Hematuria, Proteinuri... ORPHA:324
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Lymphatic Filariasis
Nephrotic syndrome, Lymphadenitis, Hematuria, Proteinuria, Orchitis, Knee osteoarthritis, Abnorma... ORPHA:2035
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Proteinuria, Chronic kidney disease, Nephritis, Renal insufficiency OMIM:208500
Cystinosis, Nephropathic
Glycosuria, Generalized aminoaciduria, Renal Fanconi syndrome, Nephrolithiasis, Proteinuria, Poly... OMIM:219800
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis OMIM:616629
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris ORPHA:140905
Proximal Renal Tubular Acidosis
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, G... ORPHA:47159
Gitelman Syndrome
Ventricular tachycardia, Polydipsia, Hypotension, Ataxia, Paresthesia, Failure to thrive, Prolong... OMIM:263800
Complex Regional Pain Syndrome
Abnormality of hair growth, Allodynia ORPHA:83452
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Hand-Foot-Genital Syndrome
Pyelonephritis, Chordee, Micropenis, Hypospadias, Ureteropelvic junction obstruction, Renal insuf... OMIM:140000
Ohdo Syndrome
Proteinuria OMIM:249620
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Tubulointerstitial Nephritis And Uveitis Syndrome
Beta 2-microglobulinuria, Scleritis, Renal neutrophilic tubulitis, Microscopic hematuria, Mild pr... ORPHA:91500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Spondyloenchondrodysplasia
Pneumonia, Hematuria, Proteinuria, Chronic kidney disease, Hepatitis, Juvenile rheumatoid arthrit... ORPHA:1855
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:228308
Gaucher Disease Type 1
Increased circulating antibody level, Osteoarthritis, Hematuria, Proteinuria ORPHA:77259
Smith-Magenis Syndrome
Impaired pain sensation, EEG abnormality, Increased body weight OMIM:182290
Bardet-Biedl Syndrome 17
Polydipsia, Hyposmia, Anosmia, Obesity OMIM:615994
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Enlarged kidney, Nephrotic syndrome, Proteinuria, Increased circ... ORPHA:505248
Familial Mediterranean Fever
Erysipelas, Nephrocalcinosis, Nephrotic syndrome, Proteinuria, Arthritis, Peritonitis, Orchitis, ... ORPHA:342
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Iritis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Iridocycli... ORPHA:85436
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Abnormality of the kidney, Renal dysplasia, Nephritis, Renal in... ORPHA:391641
Hepatic Lipase Deficiency
Angina pectoris OMIM:614025
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Irritability, Mild proteinuria OMIM:619685
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Multiple bladder diverticula, Proteinuria ORPHA:2728
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Renal insufficiency OMIM:161200
Primary Lipodystrophy
Angina pectoris, Cardiomyopathy, Hypertension, Congestive heart failure ORPHA:90970
Fish-Eye Disease
Angina pectoris ORPHA:79292
Gaucher Disease Type 3
Increased circulating antibody level, Dementia, Hematuria, Proteinuria ORPHA:77261
Listeriosis
Pyelonephritis, Pneumonia, Acute kidney injury, Infectious encephalitis, Cholecystitis, Peritonit... ORPHA:533
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Cognitive impairment, Nephrolithiasis, Proteinuria, Periodonti... ORPHA:79259
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Hematuria, Proteinuria, Chronic kidney disease, Nephropathy, Keratitis, Sta... ORPHA:1018
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Interictal epileptiform activity, Obesity, Ataxia, EEG with g... ORPHA:163681
Septo-Optic Dysplasia Spectrum
Polydipsia, Anosmia, Obesity, Hypohidrosis ORPHA:3157
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Retinal hemorrhage OMIM:177850
Glycogen Storage Disease Vii
Gout, Exercise-induced myoglobinuria OMIM:232800
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Sudden cardiac death, Telangiectasia of the skin... ORPHA:758
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephritis, Pancreatitis OMIM:251000
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Tubulointerstitial nephrit... ORPHA:139402
Ochoa Syndrome
Polydipsia, Hypertension ORPHA:2704
Hurler Syndrome
Angina pectoris, Abnormal nerve conduction velocity, Hypertension, Cardiomyopathy ORPHA:93473
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Granulomatosis With Polyangiitis
Sinusitis, Ureteral stenosis, Hematuria, Proteinuria, Inflammatory abnormality of the eye, Hydron... ORPHA:900
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Zygomycosis
Sinusitis, Gastritis, Infectious encephalitis, Colitis, Endocarditis, Myocarditis, Peritonitis, E... ORPHA:73263
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Mild proteinuria, Renal insufficiency OMIM:619147
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Erdheim-Chester Disease
Congestive heart failure, Ataxia, Polydipsia, Weight loss, Hyperhidrosis ORPHA:35687
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria ORPHA:228305
Nephrogenic Diabetes Insipidus
Polydipsia, Hypovolemia, Failure to thrive ORPHA:223
Primary Sjögren Syndrome
Optic neuritis, Cognitive impairment, Chronic hepatitis, Arteritis, Depression, Thyroiditis, Arth... ORPHA:289390
Bannayan-Riley-Ruvalcaba Syndrome
Tall stature, Cachexia, Telangiectasia, Angina pectoris, Intracranial hemorrhage ORPHA:109
Cornelia De Lange Syndrome 1
Ectopic kidney, Renal cyst, Reduced renal corticomedullary differentiation, Pneumonia, Proteinuri... OMIM:122470
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
East Syndrome
Polydipsia, Salt craving, Action tremor, Ataxia ORPHA:199343
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Neurotrophic Keratopathy
Corneal scarring, Allodynia ORPHA:137596
Gaisböck Syndrome
Hypovolemia, Elevated diastolic blood pressure, Obesity, Myocardial infarction, Overweight, Hyper... ORPHA:90041
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Nephrocalcinosis, Nephrolithiasis, Hematuria, Proteinuria, Hype... ORPHA:534
Renal Nutcracker Syndrome
Renal artery stenosis, Microscopic hematuria, Hematuria, Proteinuria ORPHA:71273
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Cholestasis, Polydipsia, Reduced number of intrahepatic ... ORPHA:84081
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Lead Poisoning
Cognitive impairment, Memory impairment, Renal tubular dysfunction, Chronic kidney disease, Tubul... ORPHA:330015
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive, Hypertension ORPHA:320
Pheochromocytoma
Elevated urinary norepinephrine, Renal artery stenosis, Proteinuria OMIM:171300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pyelonephritis, Renal cortical hyperechogenicity, Anuria, Peritonitis, Megacystis, Fetal megacystis OMIM:619351
Martin-Probst Syndrome
Micropenis, Renal insufficiency, Chordee, Proteinuria OMIM:300519
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Anxiety, Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Primary Unilateral Adrenal Hyperplasia
Palpitations, Polydipsia, Hypertension, Epistaxis ORPHA:231580
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Necrotizing enterocolitis, Exercise-induced myoglobinuria OMIM:201475
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating IgM level... ORPHA:2442
Dysbetalipoproteinemia
Angina pectoris, Obesity ORPHA:412
Neuroleptic Malignant Syndrome
Acute kidney injury, Proteinuria, Anxiety, Myoglobinuria, Urinary incontinence, Aspiration pneumonia ORPHA:94093
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Nephrotic syndrome, Recurrent skin infections, Pneumonia, Gastritis, Colitis, Interstit... ORPHA:37042
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Kawasaki Disease
Proteinuria, Sterile pyuria, Arthritis, Cholecystitis, Myocarditis, Cheilitis, Irritability, Hepa... ORPHA:2331
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Scalp-Ear-Nipple Syndrome
Renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency OMIM:181270
Cocaine Intoxication
Hematuria, Acute kidney injury, Proteinuria, Colitis, Glomerulonephritis, Tubulointerstitial neph... ORPHA:90068
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Tubulointerstitial nephritis, Emotional lability, Aminoaciduria, Depression OMIM:124000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Peritonitis, Hemoglobinuria, Acute colitis, Irritability, Pancreatitis ORPHA:90038
Cockayne Syndrome Type 1
Renal insufficiency, Uveitis, Conjunctivitis, Proteinuria ORPHA:90321
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Apolipoprotein A-I Deficiency
Angina pectoris ORPHA:425
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Bicarbonaturia, Proteinuria, Hyperphosphaturia, Aggressive behavior, Amin... OMIM:309000
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Proteinuria ORPHA:35858
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Ureteral duplication, Abnormality of the kidney, Duplication of renal pelvis, Rec... ORPHA:2036
Hellp Syndrome
Acute kidney injury, Hemoglobinuria, Proteinuria ORPHA:244242
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypertension OMIM:613677
Trigeminal Neuralgia
Allodynia ORPHA:221091
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Intention tremor, Ataxia, Dysdiadochokinesis, Polydipsia, Salt craving OMIM:612780
Eisenmenger Syndrome
Right-to-left shunt, Elevated jugular venous pressure, Ventricular tachycardia, Left-to-right shu... ORPHA:97214
Acquired Generalized Lipodystrophy
Acute pancreatitis, Panniculitis, Proteinuria ORPHA:79086
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Urethral diverticulum, Pyelonephritis, Recurrent urinary tract infections, V... ORPHA:90349
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Aminoaciduria, Albuminuria, Hypospadias OMIM:214100
Nephronophthisis 1
Polydipsia, Hypertension OMIM:256100
Brain-Lung-Thyroid Syndrome
Dystonia, Choreoathetosis, Intention tremor, Ataxia, Pulmonary arterial hypertension, Failure to ... ORPHA:209905
Pierson Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hyperechogenic kidneys, Stage 5 chr... OMIM:609049
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis OMIM:614582
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria OMIM:609015
Cockayne Syndrome
Unilateral renal agenesis, Cognitive impairment, Nephrotic syndrome, Proteinuria, Renal hypoplasi... ORPHA:191
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Hardikar Syndrome
Pyelonephritis, Cholangitis, Hydronephrosis, Bladder exstrophy, Irritability, Recurrent urinary t... OMIM:301068
Gaucher Disease
Hematuria, Proteinuria, Osteoarthritis, Increased circulating antibody level, Osteomyelitis, Hepa... ORPHA:355
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... ORPHA:1686
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive, Splenomegaly, Hepatomegaly OMIM:239200
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Increased circulating IgG level, Erythema nodosum, Hematuria, Proteinuria, Mo... ORPHA:99827
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive OMIM:304800
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Portal hypertension, Hepatosplenomegaly, Periportal fibrosis, Cholestasis, Cholan... ORPHA:731
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria ORPHA:71212
Rabson-Mendenhall Syndrome
Premature graying of hair, Reduced subcutaneous adipose tissue, Thick hair, Low anterior hairline... ORPHA:769
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatitis, Hemoglobinuria OMIM:194380
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Increased body weight, Abdominal obesity OMIM:615954
Parathyroid Carcinoma
Lipoma, Chondrocalcinosis, Dysphagia, Pancreatic adenocarcinoma, Pancreatitis, Polydipsia, Weight... ORPHA:143
Adrenocortical Carcinoma
Weight loss, Hypertension, Palpitations, Increased body weight, Hyperhidrosis ORPHA:1501
Wolfram Syndrome
Polydipsia, Ataxia, Cardiomyopathy, Gastrointestinal hemorrhage ORPHA:3463
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Glomerulonephritis, Macroscopic hematuria, Cylindruri... OMIM:233450
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Hem... ORPHA:447
Nephronophthisis 3
Polydipsia, Hepatic fibrosis OMIM:604387
Bardet-Biedl Syndrome 20
Micropenis, Pancreatitis, Proteinuria OMIM:619471
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:370
Holoprosencephaly
Cognitive impairment, Hypoplasia of penis, Abnormality of the urinary system, Proteinuria ORPHA:2162
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Aortic valve steno... ORPHA:740
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Myoglobinuria OMIM:616878
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Diffuse mesangial sclerosis, Recurrent pneumonia, Pneumonia, Sin... OMIM:102700
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sudden cardiac death, Dysphagia, Polydipsia, Weight loss ORPHA:537
Triglyceride Deposit Cardiomyovasculopathy
Arrhythmia, Cardiomyopathy, Low-output congestive heart failure, Palpitations, Angina pectoris ORPHA:565612
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:264580
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Cockayne Syndrome A
Micropenis, Dementia, Renal insufficiency, Proteinuria OMIM:216400
Nephronophthisis 11
Polydipsia, Hepatic fibrosis OMIM:613550
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Chondrocalcinosis, Dysphagia, Pancreatic adenocarcinoma, Pancreatitis, Polydipsia ORPHA:99880
Teratoma, Pineal
Polydipsia OMIM:273120
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Moderate albuminuria, Renal tubular dysfunction, Abnormality of the upper urinary tra... ORPHA:99885
Helix Syndrome
Polydipsia, Hypohidrosis, Anhidrosis OMIM:617671
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Increased body weight OMIM:615830
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Orofaciodigital Syndrome Type 1
Proteinuria, Hydronephrosis, Multicystic kidney dysplasia, Chronic otitis media, Renal insufficiency ORPHA:2750
Panhypophysitis
Polydipsia, Orthostatic hypotension ORPHA:95513
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Pearson Syndrome
Glycosuria, Renal cyst, Lacticaciduria, Proteinuria, Renal insufficiency ORPHA:699
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Moderate albuminuria, Hematuria, Acute kidney injury, Dysuria, Anxiety, Abnormal penis... ORPHA:95455
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Jaundice, Elevated hepatic transa... ORPHA:93111
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Failure to thrive, Abdominal obesity, Polyphagia, Increased body ... ORPHA:398069
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Impaired pain sensation, Polydipsia, Obesity, Polyphagia ORPHA:293987
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Decreased circulating antibody level, Iridocyclitis, Rheumatoid art... ORPHA:227990
Cockayne Syndrome B
Micropenis, Renal insufficiency, Proteinuria OMIM:133540
Williams Syndrome
Nephrocalcinosis, Bladder diverticulum, Nephrolithiasis, Renal duplication, Proteinuria, Hypercal... ORPHA:904
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Periodontitis, Moderate albuminuria OMIM:619269
Autoimmune Polyendocrinopathy Type 3
Hashimoto thyroiditis, Tubulointerstitial nephritis, Decreased circulating antibody level, Iridoc... ORPHA:227982
Intermediate Uveitis
Anterior uveitis, Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis ORPHA:279914
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth OMIM:117550
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Paresthesia, Failure to thrive, Low-to-normal blood pressure, Polydipsia OMIM:241200
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bronchiectasis, Bladder diverticulum ORPHA:90348
Nephronophthisis 4
Polydipsia OMIM:606966
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Increased body weight, Abdominal obesity ORPHA:189427
Homozygous Familial Hypercholesterolemia
Abnormal left ventricular function, Sudden cardiac death, Myocardial infarction, Supravalvular ao... ORPHA:391665
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Increased body weight, Abdominal obesity ORPHA:189439
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hypomagnesemia 3, Renal
Polydipsia, Failure to thrive OMIM:248250
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Cushing Disease
Capillary fragility, Fatiguable weakness of proximal limb muscles, Myocardial infarction, Truncal... ORPHA:96253
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Recurrent otitis media, Microscopic hematuria, Moderate... OMIM:619525
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgM level, Increased circulating IgA level, Increased circulating... ORPHA:79078
Sarcoidosis
Nephrocalcinosis, Uveitis, Nephrolithiasis, Erythema nodosum, Parotitis, Hypercalciuria, Maculopa... ORPHA:797
Cushing Syndrome Due To Ectopic Acth Secretion
Capillary fragility, Weight loss, Fatiguable weakness of proximal limb muscles, Myocardial infarc... ORPHA:99889
Pmm2-Cdg
Hypertrophic cardiomyopathy, Ataxia, Failure to thrive, Pericarditis, Angina pectoris, Intracrani... ORPHA:79318
Carney Complex
Congestive heart failure, Hypertension, Abdominal obesity, Tall stature, Increased body weight 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.