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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
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
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
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 17
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618176
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... OMIM:619263
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Severe Primary Trimethylaminuria
Aggressive behavior, Trimethylaminuria, Anxiety, Emotional lability, Low self esteem, Depression,... ORPHA:468726
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Nephrotic Syndrome, Type 26
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:620049
Focal Segmental Glomerulosclerosis 5
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:613237
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... OMIM:601894
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis OMIM:182690
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... OMIM:137950
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:600995
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria OMIM:161900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Colitis,... OMIM:617006
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... 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, Proteinuria, Nephrotic syndrome OMIM:614199
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:161950
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... OMIM:615008
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... OMIM:614377
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... OMIM:616892
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Irritability, Foa... ORPHA:656
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... OMIM:616818
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:603278
Nephrotic Syndrome, Type 4
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... OMIM:256370
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Nail-Patella-Like Renal Disease
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria ORPHA:2613
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:614455
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Serositis, Glomerulonep... ORPHA:567544
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... ORPHA:54370
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:617731
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... OMIM:617609
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:301006
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... OMIM:613496
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... OMIM:617575
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... ORPHA:567548
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:618347
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Frasier Syndrome
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:136680
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... ORPHA:63
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... OMIM:256300
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... ORPHA:84090
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613913
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cognitive impairment, Skin rash, Apathy, Glomerular sclerosis, Nephropathy, Pneumonia, Progressiv... ORPHA:247691
Galloway-Mowat Syndrome 4
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... OMIM:617730
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:618348
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Imerslund-Grasbeck Syndrome 1
Proteinuria, Dementia, Microscopic hematuria OMIM:261100
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:608709
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Proteinuria, Hematuria ORPHA:2134
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Cognitive impairment, Low-molecular-weight proteinuria, Neph... OMIM:300555
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Gout, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease OMIM:617056
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria OMIM:619428
Frasier Syndrome
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... ORPHA:347
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:203780
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Decreased glomerular filtration rate, Renal ... OMIM:162000
Chronic Recurrent Multifocal Osteomyelitis
Fever, Osteomyelitis, Palmoplantar pustulosis OMIM:259680
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Arteri... ORPHA:93126
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... OMIM:609057
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic paroxysmal anxiety, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Eleva... ORPHA:276621
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Proteinuria OMIM:105200
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Microscopic hematuria ORPHA:79087
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Par... ORPHA:439232
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Nephrotic syndrome, Abnormality of the kidney, Arthritis... ORPHA:91139
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:104200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Progressive neurologic deterioration, Proteinuria, Nephrotic syndrome ORPHA:1192
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Mental deterioration, Renal insuffi... OMIM:254900
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Focal segmental glomerulosclerosis, Recurr... OMIM:607426
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Septic arthritis, Myocarditis, Anuria, Increased circulating interle... ORPHA:544482
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chilblains, Irritability, Glo... OMIM:619487
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Proteinuria,... ORPHA:69126
Heme Oxygenase 1 Deficiency
Proteinuria, Hematuria, Increased circulating interleukin 6 concentration, Nephritis OMIM:614034
Hereditary Pheochromocytoma-Paraganglioma
Episodic paroxysmal anxiety, Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glome... ORPHA:29072
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Arthritis, Hematuria, Proteinuria, Renal insufficiency ORPHA:375
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Pediatric Systemic Lupus Erythematosus
Malar rash, Cognitive impairment, Nephrotic syndrome, Discoid lupus rash, Skin rash, Arthritis, H... ORPHA:93552
Nephrotic Syndrome, Type 21
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... OMIM:618594
Myh9-Related Disease
Nephropathy, Renal insufficiency, Nephritis, Proteinuria ORPHA:182050
Systemic Lupus Erythematosus
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis OMIM:152700
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Recurrent pneumonia, Incre... OMIM:617303
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Peritonitis, Erysipelas, Proteinuria, Renal amyloidosis OMIM:134610
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Decreased circulating IgA level, Nephrotic syndrome OMIM:215250
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease ORPHA:275555
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Stage 5 chronic kidney disease, Decreased circulating antibody level, Abnorma... OMIM:242900
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... OMIM:619609
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria ORPHA:54057
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Proteinuria, Membranoproliferative glomerulonephritis, Chilblains OMIM:619858
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis OMIM:278300
Senior-Loken Syndrome 8
Stage 5 chronic kidney disease, Nephronophthisis, Global glomerulosclerosis, Glomerular subepithe... OMIM:616307
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... OMIM:301050
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N... ORPHA:1830
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... ORPHA:567546
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... OMIM:613388
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... ORPHA:228302
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc... OMIM:602522
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis OMIM:619603
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria OMIM:166300
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria, Irritability ORPHA:369
Melas
Recurrent pancreatitis, Proximal tubulopathy, Bipolar affective disorder, Dementia, Nephropathy, ... ORPHA:550
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperhidrosis, Agitation, Tremor, Tachycardia, Increased body weight ORPHA:276608
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Bence Jones Proteinuria ORPHA:100024
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Complement Factor I Deficiency
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... OMIM:610984
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Diffuse mesangial scler... OMIM:617729
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... OMIM:134600
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... OMIM:300009
Glycogen Storage Disease Ia
Enlarged kidney, Gout, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeru... OMIM:232200
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Lcat Deficiency
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... ORPHA:650
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... OMIM:614376
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria OMIM:610205
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:70578
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Giant cell hepatitis, Nephrocalci... OMIM:613404
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Resting tremor, Congestive heart failure, Tremor, Obesity, Focal EEG discharges wi... ORPHA:3077
Glycogen Storage Disease Ib
Enlarged kidney, Gout, Inflammation of the large intestine, Decreased glomerular filtration rate,... OMIM:232220
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Panuve... OMIM:607665
Pediatric-Onset Graves Disease
Hyperhidrosis, Hyperactivity, Sinus tachycardia, Congestive heart failure, Hypertension, Failure ... ORPHA:525731
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Emotional lability, Glomerular sclerosis OMIM:223900
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... OMIM:308940
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... OMIM:615862
Cryoglobulinemia, Familial Mixed
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease OMIM:123550
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... ORPHA:276556
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis... ORPHA:261222
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Familial Cold Urticaria
Hyperhidrosis, Dysesthesia, Polydipsia ORPHA:47045
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency, Emotional lability OMIM:300653
Cerebrotendinous Xanthomatosis
Abnormality of central somatosensory evoked potentials, Pseudobulbar paralysis, Angina pectoris, ... OMIM:213700
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... ORPHA:449395
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Ataxia, Polyphagia, Obesity ORPHA:411515
Cryoglobulinemic Vasculitis
Glomerulopathy, Arthritis, Keratoconjunctivitis sicca, Hematuria, Viral hepatitis, Proteinuria, R... ORPHA:91138
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... ORPHA:276575
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria OMIM:615605
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Glomerulopathy, Skin rash, Inflammatory abnormality of the eye, Arthritis, Hematu... ORPHA:36412
Glycogen Storage Disease Ic
Chronic pancreatitis, Hematuria, Stomatitis, Gout, Inflammation of the large intestine, Decreased... OMIM:232240
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... OMIM:194080
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Syncope, Large for gestational age, Agitation, Palpitations, Polyphagi... ORPHA:324575
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Nephrotic syndrome, Nephritis, Increased circulating IgA level, Increased circulating... OMIM:603909
Fabry Disease
Hypohidrosis, Paresthesia, Transient ischemic attack, Congestive heart failure, Angina pectoris, ... OMIM:301500
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Pr... ORPHA:251004
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerular sclerosis, Ureterocele, Ab... ORPHA:158684
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria OMIM:612926
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... OMIM:146255
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria OMIM:612924
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Proteinuria, Hematuria OMIM:616901
Majeed Syndrome
Glomerulopathy, Osteomyelitis, Inflammatory abnormality of the skin, Synovitis, Pustule, Abnormal... ORPHA:77297
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Aggressive behavior, Nephrotic syndrome, Decreased glomerular filtr... ORPHA:488627
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... ORPHA:85450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Fatigable weakness of swallowing muscles, Proteinur... ORPHA:436271
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Polyphagia, Hypertension ORPHA:71529
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:251300
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Progressive forgetfulness, Hematuria, Dementia OMIM:192315
Fixed Subaortic Stenosis
Systolic heart murmur, Left ventricular outflow tract obstruction, Diastolic heart murmur, Syncop... ORPHA:3092
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Angina pect... ORPHA:85451
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Bulimia, Aortic regurgitation, Mitral regurgitation, Overweight,... OMIM:614651
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria OMIM:230400
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... OMIM:300554
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Skin rash, Arthritis, Hematuria, Myos... ORPHA:183
Insulinoma
Hyperhidrosis, Paresthesia, Abnormality of pain sensation, Tremor, Palpitations, Polyphagia, Incr... ORPHA:97279
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Nephrocalcinosis, Renal insufficiency, Renal Fanconi syndr... OMIM:276700
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... ORPHA:255249
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurrent myoglobinuria, Chronic... ORPHA:368
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria OMIM:616026
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Fatigable weakness of swallowing muscles, My... ORPHA:99845
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Chorea, Arterial occlusion, Transient ischem... ORPHA:464343
Cystinosis
Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency, Renal tubular dysfunction ORPHA:213
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Proteinuria, Renal Fanconi syndrome, Progressive neurologic deterioration ORPHA:263455
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Wagro Syndrome
Nephroblastoma, Aggressive behavior, Emotional lability, Low frustration tolerance, Anxiety, Prot... OMIM:612469
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Recurrent urinar... ORPHA:33001
Bardet-Biedl Syndrome 9
Obesity, Polyphagia, Polydipsia, Truncal obesity OMIM:615986
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Dementia, Nephrop... OMIM:277400
Galloway-Mowat Syndrome
Nephropathy, Cognitive impairment, Proteinuria, Nephrotic syndrome ORPHA:2065
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure OMIM:265400
Joubert Syndrome 32
Large for gestational age, Ataxia, Hypertrophic cardiomyopathy, Tall stature, Polymicrogyria OMIM:617757
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kidney disease OMIM:613845
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Nephritis, Sinusitis, Parotitis, Mental deterior... ORPHA:449427
Sweet Syndrome
Oligoarthritis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis ... ORPHA:3243
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hypertension, Intracranial hemorrhage, Epistaxis, Second degree ... ORPHA:369929
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Pustule, Superficial dermal perivascular inf... ORPHA:284426
Legionnaires Disease
Endocarditis, Infectious encephalitis, Hepatitis, Hematuria, Pericarditis, Proteinuria, Renal ins... ORPHA:549
Aregenerative Anemia
Cognitive impairment, Emotional lability, Dementia, Fatigable weakness of skeletal muscles, Abnor... ORPHA:101096
Obesity Due To Sim1 Deficiency
Hypotension, Polyphagia, Attention deficit hyperactivity disorder, Obesity, Postural hypotension ... ORPHA:369873
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Proteinuria, Nephrotic syndrome ORPHA:330001
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute kid... ORPHA:542323
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Gout, Focal... ORPHA:358
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Hand tremor, Impulsivity, Attention deficit hyperactivity disorder, Increased body weight ORPHA:589905
Alstrom Syndrome
Tubulointerstitial nephritis, Chronic active hepatitis, Nephritis, Recurrent pneumonia, Otitis me... OMIM:203800
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Renal artery stenosis, Proteinuria OMIM:209010
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Allodynia, Decreased body weight ORPHA:51890
Whipple Disease
Hypotension, Cachexia, Ataxia, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, ... ORPHA:3452
Central Diabetes Insipidus
Weight loss, Failure to thrive, Polydipsia ORPHA:178029
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Nail-Patella Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Arthritis, Hematur... ORPHA:2614
Plasminogen Deficiency, Type I
Conjunctivitis, Periodontitis, Nephrolithiasis, Nephritis OMIM:217090
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Partial Atrioventricular Septal Defect
Heart murmur, Transient ischemic attack, Syncope, Angina pectoris, Mitral regurgitation, Palpitat... ORPHA:1330
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia ORPHA:403
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Agel Amyloidosis
Stage 5 chronic kidney disease, Deficit in phonologic short-term memory, Keratoconjunctivitis sic... ORPHA:85448
Renal Cysts And Diabetes Syndrome
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... OMIM:137920
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... ORPHA:411709
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Hyperlysinuria, Cognitive impairment, Decreased circulating antibod... ORPHA:470
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Lymphadenitis OMIM:618886
Malakoplakia
Inflammatory abnormality of the skin, Dysuria, Urinary urgency, Skin rash, Hematuria, Urinary bla... ORPHA:556
Infantile Nephropathic Cystinosis
Aminoaciduria, Cognitive impairment, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial m... ORPHA:411629
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... OMIM:264800
Polycythemia Vera
Pulmonary embolism, Weight loss, Intermittent claudication, Angina pectoris, Hypertension, Epista... ORPHA:729
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... ORPHA:3337
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Anuria, Increased circulating interleukin 6 concentration, Acute tu... ORPHA:340
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... OMIM:614748
Smith-Magenis Syndrome
Impaired pain sensation, Hyperactivity, EEG abnormality, Increased body weight OMIM:182290
Juvenile Dermatomyositis
Mucosal telangiectasiae, Weight loss, Bundle branch block, Telangiectasia of the skin, Vasculitis... ORPHA:93672
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval, Polydipsia ORPHA:251274
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Angina pectoris, Congestive heart failure OMIM:176670
Gitelman Syndrome
Hypotension, Paresthesia, Ataxia, Failure to thrive, Prolonged QT interval, Ventricular tachycard... OMIM:263800
Microsporidiosis
Lymphadenitis, Endocarditis, Myocarditis, Rhinitis, Osteomyelitis, Prostatitis, Abnormality of th... ORPHA:2552
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Increased cir... ORPHA:85443
Relapsing Polychondritis
Conjunctivitis, Glomerulopathy, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Arthritis, I... ORPHA:728
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, EEG with generalized epileptiform discharges, Abnormality of neuronal migration, E... ORPHA:163681
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Pure Mitochondrial Myopathy
Fatigable weakness of bulbar muscles, Fatigable weakness of swallowing muscles, Recurrent myoglob... ORPHA:254854
Complex Regional Pain Syndrome
Allodynia, Abnormality of hair growth ORPHA:83452
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... ORPHA:157
Insulin-Resistance Syndrome Type B
Glycosuria, Skin rash, Nephritis, Increased circulating IgA level, Proteinuria, Pneumonia, Increa... ORPHA:2298
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Bardet-Biedl Syndrome 17
Obesity, Anosmia, Hyposmia, Polydipsia OMIM:615994
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Septo-Optic Dysplasia Spectrum
Hypohidrosis, Obesity, Anosmia, Polydipsia ORPHA:3157
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... ORPHA:48435
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria OMIM:171420
Fabry Disease
Glomerulopathy, Cognitive impairment, Anxiety, Nephrotic syndrome, Abnormal renal tubule morpholo... ORPHA:324
Systemic Sclerosis
Osteomyelitis, Acute kidney injury, Abnormality of the kidney, Arthritis, Pericarditis, Glomerulo... ORPHA:90291
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology, Microscopic hematuria OMIM:274150
Immunoglobulin A Vasculitis
Glomerulopathy, Infectious encephalitis, Skin rash, Arthritis, Hematuria, Pustule, Proteinuria, E... ORPHA:761
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease OMIM:208500
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria ORPHA:713
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria ORPHA:86818
Cystinosis, Nephropathic
Aminoaciduria, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematuria, Medullar... OMIM:219800
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... OMIM:118450
Lead Poisoning
Tubulointerstitial nephritis, Memory impairment, Cognitive impairment, Skin rash, Depression, Inc... ORPHA:330015
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris ORPHA:140905
Feingold Syndrome Type 1
Vesicoureteral reflux, Renal dysplasia, Abnormality of the kidney, Nephritis, Horseshoe kidney, R... ORPHA:391641
Psoriasis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of tumor necrosis factor secretion,... ORPHA:85436
Lymphatic Filariasis
Lymphadenitis, Nephrotic syndrome, Abnormality of the kidney, Hematuria, Epididymitis, Glomerulon... ORPHA:2035
Ochoa Syndrome
Hypertension, Polydipsia ORPHA:2704
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Diffuse Alveolar Hemorrhage
Proteinuria, Hematuria ORPHA:90060
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, EEG abnormality, Ataxia, EEG with abnormally slow frequencies, Tremor, Dysphagia, ... ORPHA:98794
Gaucher Disease Type 1
Increased circulating antibody level, Proteinuria, Hematuria, Osteoarthritis ORPHA:77259
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Irritability, Mild proteinuria OMIM:619685
Ohdo Syndrome
Proteinuria OMIM:249620
Senior-Boichis Syndrome
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Malformation of the hepatic ductal pl... ORPHA:84081
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... ORPHA:91500
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Nephrotic syndrome, Renal cyst, Pericarditis, Decreased circulating IgA lev... OMIM:212065
Hand-Foot-Genital Syndrome
Vesicoureteral reflux, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruction, Renal ins... OMIM:140000
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Hepatic Lipase Deficiency
Angina pectoris OMIM:614025
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Dysdiadochokinesis, Hypertension, Ataxia, Salt craving, Intention tremor, Polydipsia OMIM:612780
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Hepatitis, Skin rash, Arthritis, Hematuria, Proteinuria, Pneumonia... ORPHA:1855
Familial Mediterranean Fever
Nephrotic syndrome, Skin rash, Arthritis, Erysipelas, Pericarditis, Nephropathy, Proteinuria, Orc... ORPHA:342
Arima Syndrome
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... OMIM:243910
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Osteoarthritis, Atypical or prolonged hepatitis, Re... OMIM:277900
Primary Lipodystrophy
Hypertension, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:90970
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Fish-Eye Disease
Angina pectoris ORPHA:79292
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Conjunctivitis, Decreased circulating IgG level, Nephrotic syndrome, Enlarged kidney, Increased c... ORPHA:505248
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Erdheim-Chester Disease
Hyperhidrosis, Weight loss, Congestive heart failure, Ataxia, Polydipsia ORPHA:35687
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Glycogen Storage Disease Vii
Gout, Exercise-induced myoglobinuria OMIM:232800
East Syndrome
Salt craving, Polydipsia, Action tremor, Ataxia ORPHA:199343
Listeriosis
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit... ORPHA:533
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Cognitive impairment, Enterocolitis, Periodontitis, Stage 5 chronic kidney disease, Enlarged kidn... ORPHA:79259
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Stage 5 chronic kidney disease, Hematuria, Nephropathy, Keratitis, Proteinu... ORPHA:1018
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndrome, Hepatitis, Skin rash, ... ORPHA:139402
Nephrogenic Diabetes Insipidus
Failure to thrive, Hypovolemia, Polydipsia ORPHA:223
Central Precocious Puberty
Overgrowth, Obesity, Increased body weight ORPHA:759
Gaucher Disease Type 3
Increased circulating antibody level, Proteinuria, Hematuria, Dementia ORPHA:77261
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Recurrent otitis media, Multiple bladder diverticula ORPHA:2728
Zygomycosis
Endocarditis, Enterocolitis, Infectious encephalitis, Hepatitis, Fasciitis, Peritonitis, Nephriti... ORPHA:73263
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Hypertensi... ORPHA:758
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage OMIM:177850
Hurler Syndrome
Hypertension, Abnormal nerve conduction velocity, Angina pectoris, Cardiomyopathy ORPHA:93473
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... ORPHA:3093
Neurotrophic Keratopathy
Allodynia, Corneal scarring ORPHA:137596
Granulomatosis With Polyangiitis
Glomerulopathy, Prostatitis, Skin rash, Inflammatory abnormality of the eye, Hematuria, Pericardi... ORPHA:900
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension, Polydipsia ORPHA:231580
Apparent Mineralocorticoid Excess
Failure to thrive, Hypertension, Polydipsia ORPHA:320
Ogden Syndrome
Enlarged kidney, Polycystic kidney dysplasia, Eczema, Recurrent otitis media, Global glomeruloscl... OMIM:300855
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria, Hypospadias OMIM:619147
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Cachexia, Intracranial hemorrhage, Angina pectoris, Tall stature ORPHA:109
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Self-injurious behavior, Renal cyst, Reduced renal corticomedullary differ... OMIM:122470
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
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
Renal Nutcracker Syndrome
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Primary Sjögren Syndrome
Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephritis, Parotitis, Ly... ORPHA:289390
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Focal segmental glomerulosclerosis OMIM:619127
Pheochromocytoma
Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis OMIM:171300
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Benign Schwannoma
Abnormality of peripheral nervous system electrophysiology, Allodynia, Abnormality of the liver ORPHA:252164
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Aminoaciduria, Self-injurious behavior, Anxiety, Periodontitis, Abnormal renal tu... ORPHA:534
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Stage 5 chronic kidney disease, Methylmalonic aciduria, Pancreatitis, Tubulointerstitial nephritis OMIM:251000
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Kawasaki Disease
Conjunctivitis, Myocarditis, Hepatitis, Skin rash, Arthritis, Pericarditis, Sterile pyuria, Chole... ORPHA:2331
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Abnormality of the kidney, Enuresis, Anxiety ORPHA:459061
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Pyelonephritis, Megacystis, Peritonitis, Fetal megacystis OMIM:619351
Gaisböck Syndrome
Hypovolemia, Hypertension, Angina pectoris, Obesity, Myocardial infarction, Overweight, Elevated ... ORPHA:90041
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Chorea, Hyperactivity, Choreoathetosis, Ataxia, Failure to thriv... ORPHA:209905
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polydipsia OMIM:613677
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Osteomyelitis, Nephrotic syndrome, Crusting erythematous dermatitis... ORPHA:37042
X-Linked Lymphoproliferative Disease
Decreased circulating total IgM, Fulminant hepatitis, Decreased circulating antibody level, Nephr... ORPHA:2442
Dysbetalipoproteinemia
Obesity, Angina pectoris ORPHA:412
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Necrotizing enterocolitis OMIM:201475
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Proteinuria, Chordee OMIM:300519
Neuroleptic Malignant Syndrome
Urinary incontinence, Aspiration pneumonia, Acute kidney injury, Anxiety, Proteinuria, Myoglobinuria ORPHA:94093
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Trigeminal Neuralgia
Allodynia ORPHA:221091
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Renal hypoplasia, Renal insufficien... OMIM:617595
Cockayne Syndrome Type 1
Conjunctivitis, Renal insufficiency, Uveitis, Proteinuria ORPHA:90321
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Attention deficit hyperactivity disorder, Increased body weight OMIM:274300
Cocaine Intoxication
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Colitis, Protei... ORPHA:90068
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Hemoglobinuria, Peritonitis, Irritability, Acute colitis, Pancreatitis ORPHA:90038
Nephronophthisis 1
Hypertension, Polydipsia OMIM:256100
Apolipoprotein A-I Deficiency
Angina pectoris ORPHA:425
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Splenomegaly, Polydipsia, Hepatomegaly OMIM:239200
Hellp Syndrome
Acute kidney injury, Hemoglobinuria, Proteinuria ORPHA:244242
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polydipsia OMIM:125800
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Duplication of ren... ORPHA:2036
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia OMIM:304800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Proteinuria ORPHA:35858
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Weight loss, Lipoma, Dysphagia, Chondrocalcinosis, Pancreatitis, Polyd... ORPHA:143
Eisenmenger Syndrome
Pulmonary arterial hypertension, Supraventricular tachycardia, Right bundle branch block, Heart m... ORPHA:97214
Acquired Generalized Lipodystrophy
Acute pancreatitis, Proteinuria, Panniculitis ORPHA:79086
Rabson-Mendenhall Syndrome
Premature graying of hair, Reduced subcutaneous adipose tissue, Hirsutism, Polydipsia, Hypertrich... ORPHA:769
Wolfram Syndrome
Ataxia, Polydipsia, Gastrointestinal hemorrhage, Cardiomyopathy ORPHA:3463
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... ORPHA:731
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hypospadias, Albuminuria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis OMIM:614582
Toxic Epidermal Necrolysis
Sudden cardiac death, Weight loss, Gastrointestinal hemorrhage, Dysphagia, Polydipsia ORPHA:537
Hardikar Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Recurrent urinary tract infections, Hydroureter... OMIM:301068
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Thyrotoxic Periodic Paralysis
Hyperhidrosis, Impaired myocardial contractility, Abnormality of peripheral nerve conduction, Wei... ORPHA:79102
Pierson Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp... OMIM:609049
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Nephronophthisis 3
Hepatic fibrosis, Polydipsia OMIM:604387
Cockayne Syndrome
Urinary incontinence, Malar rash, Cognitive impairment, Nephrotic syndrome, Neurogenic bladder, K... ORPHA:191
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Inflammatory abnormality of the skin, Skin rash, Decreased circu... OMIM:102700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatitis, Hemoglobinuria OMIM:194380
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Erythema nodosum, Morbilliform rash, Hematuria, Emotional lability, Epididymitis,... ORPHA:99827
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Lipoma, Dysphagia, Chondrocalcinosis, Pancreatitis, Polydipsia ORPHA:99880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Teratoma, Pineal
Polydipsia OMIM:273120
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Allodynia, Cachexia, Dysphagia, Slender build OMIM:603041
Nephronophthisis 11
Hepatic fibrosis, Polydipsia OMIM:613550
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... ORPHA:1686
Gaucher Disease
Osteomyelitis, Increased circulating antibody level, Hepatitis, Hematuria, Depression, Proteinuri... ORPHA:355
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Hypertension, Increased body weight OMIM:615954
Adrenocortical Carcinoma
Hyperhidrosis, Weight loss, Hypertension, Palpitations, Increased body weight ORPHA:1501
Goodpasture Syndrome
Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Macrosco... OMIM:233450
Panhypophysitis
Orthostatic hypotension, Polydipsia ORPHA:95513
Autosomal Recessive Cutis Laxa Type 1
Vesicoureteral reflux, Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum,... ORPHA:90349
Helix Syndrome
Hypohidrosis, Anhidrosis, Polydipsia OMIM:617671
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Hemoglobinuria, Glycosuria, Proteinuria, Hemosiderinuria, Renal insufficienc... ORPHA:447
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:370
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:79240
Holoprosencephaly
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis, Cognitive impairment ORPHA:2162
Bardet-Biedl Syndrome 20
Proteinuria, Pancreatitis, Micropenis OMIM:619471
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Palpitations, Arrhythmia, Cardiomyopathy ORPHA:565612
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Aggressive behavior, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal r... OMIM:309000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:264580
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Left ventricular diastolic dysfunction, Weight loss, Transient i... ORPHA:740
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Jaundice, Eleva... ORPHA:93111
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Renal insufficiency, Pyelonephritis, Unilateral renal agenesis OMIM:181270
Cockayne Syndrome A
Renal insufficiency, Dementia, Micropenis, Proteinuria OMIM:216400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Proteinuria, Renal insufficiency, Chronic otitis media, Hydronephrosis ORPHA:2750
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Increased body weight OMIM:615830
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Renal tubula... ORPHA:99885
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Conjunctivitis, Rhinitis, Inflammatory abnormality of the skin, Acute kidney injury, Dysuria, Ren... ORPHA:95455
Pearson Syndrome
Glycosuria, Lacticaciduria, Renal cyst, Proteinuria, Renal insufficiency ORPHA:699
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
Sotos Syndrome
Overgrowth, Attention deficit hyperactivity disorder, Tall stature, Increased body weight OMIM:117550
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Impulsivity, Polyphagia, Impaired temperature sensation, Abdominal obesity, In... ORPHA:398069
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Impaired pain sensation, Polyphagia, Obesity, Polydipsia ORPHA:293987
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Decreased circulating antibody l... ORPHA:227990
Bartter Syndrome, Type 2, Antenatal
Paresthesia, Small for gestational age, Low-to-normal blood pressure, Failure to thrive, Polydipsia OMIM:241200
Nephronophthisis 4
Polydipsia OMIM:606966
Glycogen Storage Disease Xii
Hemoglobinuria, Cholecystitis OMIM:611881
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Decreased circulating antibody l... ORPHA:227982
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Williams Syndrome
Vesicoureteral reflux, Renal duplication, Anxiety, Recurrent urinary tract infections, Hypoplasia... ORPHA:904
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis, Bronchiectasis ORPHA:90348
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Pituitary Dermoid And Epidermoid Cysts