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Gene: Guca2b MGI:1270851

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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:
guanylate cyclase activator 2b (retina)
Synonyms:
Gcap2,  uroguanylin

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 Guca2b 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 Guca2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein... OMIM:601894
Polycystic Kidney Disease 7
Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... OMIM:137950
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine conc... OMIM:161900
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... OMIM:603965
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Nail-Patella-Like Renal Disease
Glomerulopathy, Hypertension, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulu... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:613944
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
Glucose-Galactose Malabsorption
Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Hypernatremia, Osmotic diarrhea, Hypercalcemia, R... ORPHA:35710
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr... OMIM:613237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti... OMIM:162000
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Hypertension, Nephrotic syndrome, Micro... ORPHA:84090
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Liddle Syndrome
Hypokalemia, Renal insufficiency, Hypertension, Cerebral ischemia, Constipation, Arrhythmia, Neph... ORPHA:526
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:161950
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor... ORPHA:2843
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hypertension, Stage 5 chronic ... OMIM:618061
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Hypovolemia, Functional abnormality of the bladder... ORPHA:223
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Reduced left ventricular ejection fraction, Hypocalcemia, Elevated left ve... OMIM:620152
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Elevated urine acetoacetic acid level, Low plasma citrulline, Episodic vomiting, Hyper... OMIM:615751
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Vomiting, Constipation, Hypernatremia, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Vomiting, Constipation, Hypernatremia, Megacystis OMIM:304800
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Elevated systolic blood pressure, Decreased circulati... OMIM:300539
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, V... OMIM:203400
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu... OMIM:174000
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hyperechogenic kidneys, Reduced renal... OMIM:617610
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Hypertension, Beta 2-m... ORPHA:97362
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Proteinuria, Nephroblastoma, Nephropathy ORPHA:220
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperkalemia, Diarrhea, Hypotension, Vomiting, Hyponatremia OMIM:264350
Neuroleptic Malignant Syndrome
Urinary incontinence, Bradycardia, Myoglobinuria, Hypertension, Hypertensive crisis, Dysphagia, A... ORPHA:94093
Hereditary Coproporphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Episodic vomiting,... ORPHA:79273
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Hyperten... ORPHA:567544
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatrem... ORPHA:556037
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatrem... ORPHA:556030
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level, Hyp... OMIM:610600
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension OMIM:602079
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Cryoglobulinemia, Familial Mixed
Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated... OMIM:123550
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal obstruction, Decreased HDL cholesterol concentration, Gastrointestinal hemorrhage, Dec... ORPHA:85450
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Protein... OMIM:603278
Amyloidosis, Familial Visceral
Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy OMIM:105200
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Dysuria, Uric acid ... ORPHA:976
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Diarrhea, Hyperten... OMIM:121300
Webb-Dattani Syndrome
Gastroesophageal reflux, Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Hypernatremia,... OMIM:615926
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ... ORPHA:93598
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Orthostatic hypotension, Diarrhea, Hypotension, Hypovolemia, In... ORPHA:427
Oligomeganephronia
Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ... ORPHA:2260
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
C3 Glomerulopathy
Acute kidney injury, Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Mesangial hypercel... ORPHA:329918
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Oliguria, Diarrhea, Hypotension... ORPHA:31824
Snakebite Envenomation
Acute kidney injury, Diarrhea, Hypotension, Cerebral ischemia, Neuromuscular dysphagia, Vomiting,... ORPHA:449285
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612925
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Proteinuria, Hyp... OMIM:618913
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Pulmonary arterial hypertension, Increased blood ure... OMIM:613845
Liddle Syndrome 1
Decreased circulating renin level, Hypertension, Renal insufficiency, Hypokalemia OMIM:177200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612924
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612926
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Alport Syndrome 2, Autosomal Recessive
Hematuria, Hypertension, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, P... OMIM:203780
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Central Diabetes Insipidus
Diarrhea, Hyponatremia, Nocturia ORPHA:178029
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Diarrhea, Hypotension, Increased circulating renin level, Hyponatremia, Vomiting OMIM:177735
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerula... OMIM:104200
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hypotension, Increased circulating renin level OMIM:620125
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi... ORPHA:340
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Hypertension, Cardiomyopathy, Arrhythmia, Renal insufficiency ORPHA:3222
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Nephronophthisis 18
Nephronophthisis, Hypertension, Thickened glomerular basement membrane, Renal tubular atrophy, St... OMIM:615862
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Pulmonary ... OMIM:602088
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret... OMIM:620734
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, Hypotensi... OMIM:611489
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Decreased glomerular filtration rate, Glomerular sc... ORPHA:93126
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Neurogenic bladder... ORPHA:79473
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Vomiting, Increased circulating renin level OMIM:620126
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Hypertension, Chronic kidney disease ORPHA:3156
Cholera
Acute kidney injury, Hypokalemia, Tachycardia, Hypocalcemia, Diarrhea, Hypotension, Hypovolemic s... ORPHA:173
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Episodic v... ORPHA:100924
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Glycogen Storage Disease Ia
Intermittent diarrhea, Enlarged kidney, Decreased glomerular filtration rate, Hyperuricemia, Hype... OMIM:232200
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Elevated diastolic blood pressure, Elevated systo... ORPHA:275555
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Glutaric Aciduria Iii
Diarrhea, Glutaric aciduria, Hypertension, Vomiting OMIM:231690
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hypoglutaminemia, Hyperglutamatemia, Increased serum... ORPHA:3008
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia OMIM:614736
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Glycogen Storage Disease Ic
Hematuria, Decreased glomerular filtration rate, Hyperuricemia, Stomatitis, Spider hemangioma, Hy... OMIM:232240
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Elevated urinary norepinephrine level, Hypercalc... OMIM:171420
Non-Functioning Paraganglioma
Congestive heart failure, Hematuria, Hypertension associated with pheochromocytoma, Elevated urin... ORPHA:94080
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Vomiting OMIM:240200
Xanthinuria, Type Ii
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... OMIM:603592
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund... ORPHA:439232
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hypertension OMIM:613677
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Sudden cardiac death... OMIM:610947
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia, Eosinophilic infiltration of the esophagus, Hypoalbuminemia OMIM:615508
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ... ORPHA:488627
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hypokalemia, Hyperprostaglandinuria, Hypercalciuria, Imp... ORPHA:89938
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Acute colitis, Diarrhea, Anuria, Hypertension, Bloody diarrhea,... ORPHA:90038
Legionnaires Disease
Myocarditis, Hematuria, Diarrhea, Hypotension, Hyponatremia, Pericarditis, Proteinuria, Arrhythmi... ORPHA:549
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Hyp... ORPHA:93108
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infections, Hypertension, Multi... OMIM:613095
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Hypertension, Nephropathy, Proteinuria ORPHA:1192
Glycogen Storage Disease Ib
Enlarged kidney, Decreased glomerular filtration rate, Hyperuricemia, Hypertension, Hyperlipidemi... OMIM:232220
Familial Glucocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Diarrhea, Recurrent urinary tract infections, Hypotension, Hype... ORPHA:361
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,... OMIM:610205
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Hypertension, Nausea, Epistaxis, Increased urinar... ORPHA:231625
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Gastroesophageal reflux, Hypocalcemia, Hypertension, Renal artery stenos... OMIM:617913
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Hypertension, Nausea, Epistaxis, Increased urinar... ORPHA:231580
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Renal insufficiency, Mitral regurgitation OMIM:173900
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypokalemia, Hypercalciuria, Hypertension, Nausea, Epistaxis, Intracranial... ORPHA:251274
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Frasier Syndrome
Glomerulopathy, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria... ORPHA:347
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase... OMIM:615703
Mercury Poisoning
Acute kidney injury, Hypokalemia, Episodic vomiting, Hypertension, Hypotension, Nausea, Tachycardia ORPHA:330021
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:166300
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... OMIM:241150
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Sneddon Syndrome
Hypertension, Nephropathy, Intracranial hemorrhage ORPHA:820
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, H... OMIM:614473
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incontinence, Constipa... ORPHA:84085
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricemia, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria,... ORPHA:411536
Infant Botulism
Hypertension, Cardiac arrest, Hypotension, Bowel incontinence, Constipation, Hyponatremia, Dyspha... ORPHA:178478
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Hypertension, Nephrocalcinosis, Abnormal urine so... ORPHA:320
Familial Renal Glucosuria
Glycosuria, Recurrent urinary tract infections, Nephropathy, Renal tubular dysfunction ORPHA:69076
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Hypokalemia, Decreased circulating renin level, Hypertension, Nausea, Epi... ORPHA:231632
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Hyponatremia, Vomiting, Arrhy... ORPHA:171876
Fabry Disease
Congestive heart failure, Urinary mulberry cells, Angina pectoris, Diarrhea, Hypertension, Transi... OMIM:301500
Alport Syndrome
Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial fibrosis, Hypertension,... ORPHA:63
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Steatorrhea, Decrease... ORPHA:470
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Diarrhea, Hypertension, Dysuria... OMIM:176000
Rhabdoid Tumor
Renal neoplasm, Hematuria, Hypertension, Internal hemorrhage, Hypercalcemia ORPHA:69077
Hyperkalemic Periodic Paralysis
Hyperkalemia, Congestive heart failure, Hypokalemia, Elevated circulating creatine kinase concent... ORPHA:682
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Orthostatic hypotension, Hyperuricemia, Diarrhea, Hypotension, ... ORPHA:95409
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypertension, Hypospadias OMIM:201910
Attrv30M Amyloidosis
Diarrhea, Cardiomyopathy, Constipation, Abnormal renal physiology, Arrhythmia, Atrioventricular b... ORPHA:85447
Familial Dysautonomia
Abnormality of the kidney, Glomerulopathy, Orthostatic hypotension, Gastroesophageal reflux, Hype... ORPHA:1764
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:268200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Constipatio... OMIM:615112
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Alport Syndrome 1, X-Linked
Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, ... OMIM:301050
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Chronic diarrhea, Hypotension, N... ORPHA:85445
Hypomagnesemia 3, Renal
Hypertension, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentrat... OMIM:248250
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Nephroblastoma
Nephroblastoma, Hypertension, Hematuria ORPHA:654
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension, Abnormality of the urinary system OMIM:103900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Renal... OMIM:611773
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Renal inters... OMIM:614817
Congenital Isolated Acth Deficiency
Hyponatremia, Hypotension ORPHA:199296
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hematochezia, Secreto... OMIM:618183
Heme Oxygenase 1 Deficiency
Hematuria, Elevated circulating C-reactive protein concentration, Hypertension, Nephritis, Epista... OMIM:614034
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hematuria, Glomerular sclerosis, Hypertension associated with pheochrom... ORPHA:276621
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Myocarditis, Hypocalcemia, Acute colitis, Anuria, Nephrotic ra... ORPHA:544482
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Shigellosis
Myocarditis, Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Acute colitis, Bloody di... ORPHA:810
Generalized Pustular Psoriasis
Congestive heart failure, Elevated circulating C-reactive protein concentration, Hypocalcemia, Hy... ORPHA:247353
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Elevated urinary norepinephrine level, Renal art... OMIM:171300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Renal salt wasting, Penoscrotal hypospadias, Hypospadias, Hypotension, Increased ci... ORPHA:90791
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hypotension, Elevated circulating creatine kinase concentration, Tac... OMIM:145600
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Adrenal Hypoplasia, Congenital
Renal salt wasting, Hyponatremia OMIM:300200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Hypertension, ... OMIM:612780
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Cystinosis, Nephropathic
Generalized aminoaciduria, Hypophosphatemia, Dysphagia, Stage 5 chronic kidney disease, Reduced b... OMIM:219800
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho... OMIM:256700
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Exocrine pancreatic insufficiency, Chronic kidn... ORPHA:1667
Pseudo-Torch Syndrome 3
Acute kidney injury, Hypertension, Proteinuria, Cerebral hemorrhage, Increased circulating ferrit... OMIM:618886
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Vomiting, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia OMIM:620423
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Hypertension, Abnormal renal cort... OMIM:616733
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... OMIM:203500
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Tetanus
Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norepinephrine le... ORPHA:3299
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Hypertens... ORPHA:411709
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618126
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Hypertension, Renal tubular atrophy, ... OMIM:613159
Polyarteritis Nodosa
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Hypertension, C... ORPHA:767
Familial Hyperaldosteronism Type Ii
Hypokalemia, Hypertension, Nausea, Epistaxis, Intracranial hemorrhage ORPHA:404
Necrotizing Enterocolitis
Bradycardia, Diarrhea, Bloody diarrhea, Hypotension, Vomiting, Hyponatremia, Peritonitis, Shock ORPHA:391673
Familial Hyperaldosteronism Type I
Hypokalemia, Hypertension, Nausea, Epistaxis, Intracranial hemorrhage ORPHA:403
Potocki-Shaffer Syndrome
Nephroblastoma, Hypertension, Micropenis ORPHA:52022
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hypertension, Nephrolithiasis, Pulmonary arterial hypertension, Nausea, Epistaxis, I... ORPHA:369929
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hypertension, Hyperchloremia OMIM:614496
Mirage Syndrome
Hyperkalemia, Hypospadias, Gastroesophageal reflux, Recurrent urinary tract infections, Chronic d... OMIM:617053
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hypertension, Hyperlipidemia, Focal segmental glomeruloscleros... ORPHA:567546
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Hypertension, Nephrolithiasis ORPHA:2833
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension OMIM:600666
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Glomerular sclerosis, Gastroesophageal reflux, Diarrhea, Hypertension, I... OMIM:223900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Diarrhea, Anuria, Hypertension, Hyperlipidemia, I... OMIM:235400
Adenohypophysitis
Hyposthenuria, Hyponatremia, Orthostatic hypotension, Nausea ORPHA:95512
Papillorenal Syndrome
Stage 5 chronic kidney disease, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinu... OMIM:120330
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Bilateral renal agenesis, Hypertension, Proteinuria OMIM:191830
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Hypertension, Elevated urinary norepinephrine level, Elev... OMIM:171400
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Shock, Hematuria, Prol... ORPHA:31826
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hematuria, Glomerular sclerosis, Hypertension associated with pheochrom... ORPHA:29072
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Narcolepsy Type 1
Syncope, Hypertension, Nocturia, Constipation ORPHA:2073
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Hypertension, Renal hypoplasia, Hyperechogenic kidn... OMIM:617595
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Hyperuricemia, Hprt-Related
Renal insufficiency, Hyperuricosuria, Nephrolithiasis, Hyperuricemia OMIM:300323
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension, Hyperechogenic kidneys OMIM:619111
Hartsfield Syndrome
Hypernatremia, Micropenis, Hypospadias OMIM:615465
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Secretory diarrhea OMIM:214700
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Gastritis, Elevated circulating C-reactive protein concentration, Diarrhea,... OMIM:619381
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Steatorrhea, Diarrhea, Hypotension, Pulmo... ORPHA:275761
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Panhypophysitis
Hyposthenuria, Hyponatremia, Orthostatic hypotension, Nausea ORPHA:95513
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Urogenital sinus anomaly, Abnormal circulating cholesterol conc... ORPHA:168558
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hypertension, Hyperchloremia OMIM:614492
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Hypertension, Portal hypertension, Increased ... ORPHA:84081
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hypertension ORPHA:71529
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Hypertens... OMIM:263200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Urogenital sinus anomaly, Abnormal circulating cholesterol conc... ORPHA:289548
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Episodic vomiting, Hypertension, Arrhyt... OMIM:540000
Methanol Poisoning
Diarrhea, Hypertension, Hyperlipidemia, Permanent atrial fibrillation, Vomiting, Inflammatory art... ORPHA:31825
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Hypertension, Nephrolithiasis, Pulmonary arterial... OMIM:615474
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Large vessel vasculitis, Hematuria, Eleva... ORPHA:49041
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Vomiting, ... OMIM:308940
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Hypertension, Bowel incontinence, Ab... ORPHA:3027
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypertension, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuri... ORPHA:251004
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis, Hyperuricemia ORPHA:214
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal telangiectasia OMIM:620157
Mitochondrial Complex I Deficiency, Nuclear Type 32
Vomiting, Hyponatremia, Patent urachus OMIM:618252
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:218030
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Cirrhosis, Familial
Increased level of L-fucose in urine, Increased level of propylene glycol in blood, Hypertension,... OMIM:215600
Addison Disease
Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Hyperuricemia, Diarrhea, Hypotension, ... ORPHA:85138
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Alg8-Cdg
Diarrhea, Hyponatremia, Vomiting ORPHA:79325
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Hyponatremia, Pericarditis, Myoc... ORPHA:3452
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas... ORPHA:91500
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Hyposthenuria, Constipation, Hyponatremia, Nausea, Palpitat... ORPHA:91355
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stress urinary incontinence, Ischemic stroke, Hypertension, Transient ischemic attack, Cerebral i... ORPHA:136
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc... OMIM:614227
Simple Cryoglobulinemia
Abnormality of the kidney, Gastrointestinal hemorrhage, Congestive heart failure, Vasculitis, Hyp... ORPHA:91139
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Glomerulopathy, Myocardial infarction, Hematuria, Intestin... ORPHA:183
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia OMIM:267200
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Penoscrotal hypospadias, Hypospadias, Scrotal hypospadias, Microphallus, Hyponatrem... OMIM:201810
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension OMIM:615954
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Gastrointestinal hemorrhage, Increased serum bile acid conc... ORPHA:731
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension OMIM:605115
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hyperuricemia, Diarrhea, Hypotension, Constipation, Hyponatremia, Hyperc... ORPHA:199299
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid... ORPHA:3337
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, Vomiting, Hypomethi... ORPHA:2169
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Hypertension, Budd-Chiari syndro... ORPHA:447
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Hypertension, Pulmonary arterial hypertension, Hypoalbuminemia, Second degree atrioven... OMIM:617021
Cocaine Intoxication
Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Acute ki... ORPHA:90068
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Gastroesophageal reflux, Hypertensive crisis, Pulmonary arterial hypert... ORPHA:220393
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon, Dysphagia, Achalasia OMIM:615750
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Increased serum pyruvate, Hypertension, Hypertrophic cardiomyopathy, Di... ORPHA:1349
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Hypertension, Secretory diarrhea OMIM:616069
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Glomerular sclerosis, Hypertension, Cardiomyopathy, Proteinuria, Pun... ORPHA:247691
Adrenocortical Carcinoma
Hypokalemia, Palpitations, Hypertension, Abnormality of urine homeostasis, Increased urinary cort... ORPHA:1501
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:145981
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hypertension ORPHA:280356
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hypertension OMIM:613877
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Minimal change glomerulonephritis, Nephrotic range pro... ORPHA:1830
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Elevated circulating crea... OMIM:615980
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction, Chronic kidney disease OMIM:208060
Familial Cervical Artery Dissection
Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage, Subara... ORPHA:36382
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infe... OMIM:619487
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, El... OMIM:266900
Serotonin Syndrome
Acute kidney injury, Diarrhea, Hypertension, Hypotension, Nausea, Tachycardia ORPHA:43116
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Beta-Ketothiolase Deficiency
Hyperuricemia, Diarrhea, Hypertension, Hypotension, Vomiting, Hyperammonemia, Ketonuria ORPHA:134
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hyperkalemia, Long penis, Elevated urinary epinephrine level, Urogenital sinu... ORPHA:90794
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Scorpion Envenomation
Myocarditis, Acute kidney injury, Congestive heart failure, Increased circulating NT-proBNP conce... ORPHA:466677
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypokalemia, Renal insufficiency, Hy... ORPHA:534
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Hypertension, Renal cyst, Portal hypertension, Stage... OMIM:216360
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass... OMIM:601678
Lead Poisoning
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertension, V... ORPHA:330015
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hypertension OMIM:608600
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension ORPHA:95613
Denys-Drash Syndrome
Enlarged kidney, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse me... OMIM:194080
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Vomiting ORPHA:90790
Neuroblastoma
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho... ORPHA:635
Fabry Disease
Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Transient ischemic attack... ORPHA:324
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension, Chronic constipation, Episodic vomiting OMIM:619483
Schimke Immunoosseous Dysplasia
Hypertension, Transient ischemic attack, Cerebral ischemia, Focal segmental glomerulosclerosis, P... OMIM:242900
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Micropenis OMIM:613870
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypophosphatemic rickets, Hypertension, Renal artery stenosis, Dilated ... OMIM:208000
Gaisböck Syndrome
Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten... ORPHA:90041
Rabin-Pappas Syndrome
Hyponatremia, Retinal telangiectasia OMIM:620155
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Hypokalemia, Long penis, Decr... ORPHA:90795
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hypertension OMIM:615238
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Overlap Myositis
Abnormal circulating lipid concentration, Abnormality of the kidney, Hypertension, Elevated circu... ORPHA:206572
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Xero... OMIM:617671
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Sickle Cell Disease
Hypertension, Hematuria, Renal insufficiency OMIM:603903
Alg12-Cdg
Hypospadias, Gastroesophageal reflux, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia, Micropenis ORPHA:79324
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypertension, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria,... OMIM:617729
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
3-Methylglutaconic aciduria, Hypospadias, Gastroparesis, Hypertension, Hyperalaninemia, Hypertrop... OMIM:614052
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Nephrolithiasis, Hypokalemia OMIM:219090
Takayasu Arteritis
Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Hypertensive crisis... ORPHA:3287
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Abnormal cardiovascular system ph... ORPHA:79086
Xfe Progeroid Syndrome
Hypoalbuminemia, Hypertension, Renal insufficiency, Proteinuria OMIM:610965
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Primary Progressive Freezing Gait
Urinary incontinence, Hypertension, Dysphagia ORPHA:75567
Pheochromocytoma/Paraganglioma Syndrome 4
Elevated urinary catecholamine level, Hypertension associated with pheochromocytoma, Renal cell c... OMIM:115310
Holoprosencephaly
Gastroesophageal reflux, Hypoplasia of penis, Constipation, Hyponatremia, Proteinuria, Arrhythmia... ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Hyper... OMIM:610505
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Gastroesophageal reflux, Hyponatremia, Vomiting, Hypokalemia OMIM:618426
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Alopecia Universalis
Abnormal circulating lipid concentration, Hypertension ORPHA:701
Granulomatosis With Polyangiitis
Intestinal obstruction, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Elevated circulat... ORPHA:900
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Hypertension, Nephrolithiasis, Premature ventricular contraction OMIM:620504
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Hypospadias, Hypocalcemia, Chronic gastritis, Alpha-aminobutyric... OMIM:619991
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hypertension ORPHA:363400
Wagro Syndrome
Nephroblastoma, Hypertension, Proteinuria OMIM:612469
Japanese Encephalitis
Diarrhea, Hyponatremia, Vomiting ORPHA:79139
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hyperuricemia OMIM:604367
Morgagni-Stewart-Morel Syndrome
Hypertension, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hypotension ORPHA:293978
Seckel Syndrome 10
Hypertriglyceridemia, Congestive heart failure, Hypertension, Glycosuria, Elevated hemoglobin A1c OMIM:617253
Riboflavin Transporter Deficiency
Hypertension, Dysphagia ORPHA:97229
Spondyloenchondrodysplasia
Hematuria, Vasculitis, Hypertension, Proteinuria, Raynaud phenomenon, Chronic kidney disease ORPHA:1855
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Hypertension OMIM:610489
Alagille Syndrome
Renal hypoplasia/aplasia, Hypertension, Abnormality of the ureter, Nephrotic syndrome, Telangiect... ORPHA:52
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Dia... ORPHA:653
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hyperuricemia, Tubulointerstitial fibrosis, Diarrhea, Hype... ORPHA:79259
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hypertension, Renal cell carcinoma, Hyperlipidemia, Nephrolithiasis, Increased urinary cortisol l... ORPHA:189427
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypertension, Hypotension, Bowel incontinence, Urinary bladder sphincter dysfunctio... ORPHA:93256
Pierson Syndrome
Hypoproteinemia, Hypertension, Retinal hemorrhage, Nephrotic syndrome, Diffuse mesangial sclerosi... OMIM:609049
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Hypertension, Absence of renal corticomedullary differentiation OMIM:619758
Postinfectious Vasculitis
Gastrointestinal inflammation, Ischemic stroke, Hematuria, Elevated circulating C-reactive protei... ORPHA:48435
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage ORPHA:280679
Postorgasmic Illness Syndrome
Palpitations, Hypertension, Xerostomia ORPHA:279947
Cockayne Syndrome Type 1
Diarrhea, Hypertension, Increased blood urea nitrogen, Proteinuria, Renal insufficiency ORPHA:90321
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Nelson Syndrome
Increased urinary cortisol level, Hypertension, Intracranial hemorrhage, Hypokalemia ORPHA:199244
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypertension, Hypokalemia ORPHA:786
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hypercholesterolemia... OMIM:615812
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Hyponatremia, Epistaxis, Increased circulating ferritin co... ORPHA:167
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Hypertension... ORPHA:2036
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Hyperuricemia, Hypertension, Hypertrophic cardiom... ORPHA:79083
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased urinary 11-deoxycorticosterone level, Hypokalemia, Decreased circulating r... ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypertension, Hypokalemia, Long penis OMIM:202010
Von Hippel-Lindau Disease
Myocarditis, Elevated urinary catecholamine level, Hypertension, Cardiomyopathy, Renal cell carci... ORPHA:892
Joubert Syndrome 14
Hypertension, Intracranial hemorrhage, Renal cyst OMIM:614424
Familial Cerebral Saccular Aneurysm
Hypertension, Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage ORPHA:231160
Alstrom Syndrome
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hyperuri... OMIM:203800
Acute Transverse Myelitis
Urinary incontinence, Orthostatic hypotension, Decreased circulating copper concentration, Gastro... ORPHA:139417
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Hypertension, Aortic valve stenosis, Papillary re... ORPHA:363618
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, Myocarditis, Reti... ORPHA:99827
Werner Syndrome
Congestive heart failure, Renal neoplasm, Hypertension, Telangiectasia of the skin, Myocardial in... ORPHA:902
Hurler Syndrome
Angina pectoris, Chronic diarrhea, Hypertension, Cardiomyopathy, Mucopolysacchariduria ORPHA:93473
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Prolong... ORPHA:79443
Pediatric-Onset Graves Disease
Congestive heart failure, Atrial fibrillation, Diarrhea, Sinus tachycardia, Hypertension, Palpita... ORPHA:525731
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Hypertension, Elevated circulating C-reactive prot... ORPHA:79126
Aicardi-Goutieres Syndrome 7
Hematemesis, Diarrhea, Vasculitis, Hypertension, Bloody diarrhea, Hypertrophic cardiomyopathy, Ne... OMIM:615846
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ... OMIM:178600
Alkaptonuria
Hypertension, Nephrolithiasis, Aortic valve stenosis, Mitral stenosis, Dark urine, Elevated urina... ORPHA:56
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Hypospadias, Vesicovaginal fistula, Decreased circulating renin level, Hypertension... OMIM:201750
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Enuresis ORPHA:293987
Systemic Lupus Erythematosus
Hematuria, Pyuria, Hypertension, Proteinuria, Raynaud phenomenon, Lupus nephritis ORPHA:536
Monosomy 18P
Hypertension ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Tuberous Sclerosis Complex
Abnormality of the kidney, Polycystic kidney dysplasia, Hypertension, Renal cell carcinoma, Renal... ORPHA:805
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension, Vomiting, Nausea, Dysphagia, Paralytic ileus ORPHA:2912
Au-Kline Syndrome
Gastroesophageal reflux, Hypertension, Vesicoureteral reflux, Constipation, Hydronephrosis, Chron... OMIM:616580
Hardikar Syndrome
Hematemesis, Hydroureter, Recurrent urinary tract infections, Hyperbilirubinemia, Vesicoureteral ... OMIM:301068
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Gaucher Disease, Type I
Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Epistaxis, Mitral regurgita... OMIM:230800
Von Hippel-Lindau Syndrome
Hypertension, Renal cell carcinoma, Multiple renal cysts OMIM:193300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage OMIM:300845
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis, Hypertensive crisis ORPHA:1358
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hypertension, Hydronephrosis, Exocrine pancreatic insufficiency, Proteinuria... ORPHA:2750
Extracranial Carotid Artery Aneurysm
Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:494424
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Ischemic stroke, Hyperhomocystinemia, Hypertension, Tel... ORPHA:542643
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Unilateral renal agenesis, Hypertension, Supraventricular tachycardia, ... OMIM:181270
Cockayne Syndrome
Urinary incontinence, Unilateral renal agenesis, Gastroesophageal reflux, Hyperuricemia, Neurogen... ORPHA:191
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Multiple Endocrine Neoplasia Type 1
Hematemesis, Melena, Gastroesophageal reflux, Hypercalciuria, Diarrhea, Hypertension, Nephrolithi... ORPHA:652
Homozygous Familial Hypercholesterolemia
Renal steatosis, Abnormal left ventricular function, Angina pectoris, Increased LDL cholesterol c... ORPHA:391665
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Transient hyperphenylalaninemia ORPHA:98808
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Hypertension, Renal cyst, Reduced re... OMIM:266920
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia, Hyperte... OMIM:619573
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Vasculitis, Renal artery aneurysm, Hyperte... OMIM:615688
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Orthostatic hypotension, Diarrhea, Hypertension, Pulmonary arteri... OMIM:606721
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Gastroesophageal reflux, Hypertension, Cardiac arrest, Eso... ORPHA:3342
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia ORPHA:69663
Williams-Beuren Syndrome
Abnormal renal morphology, Hypertension, Pulmonic stenosis, Nephrocalcinosis, Urethral stenosis, ... OMIM:194050
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collecting system, Ga... OMIM:270400
Blau Syndrome
Large vessel vasculitis, Hypertension, Pulmonary arterial hypertension, Pericarditis, Clear cell ... ORPHA:90340
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Hypertension, Cerebral ischemia, P... ORPHA:904
Cockayne Syndrome B
Renal insufficiency, Hypertension, Proteinuria, Arrhythmia, Micropenis OMIM:133540
Cockayne Syndrome A
Renal insufficiency, Hypertension, Proteinuria, Arrhythmia, Micropenis OMIM:216400
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Hypertension, Micropenis OMIM:209900
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Hypokalemia, Supraventricular arrhythmia, Hypertension, Hypotension, Vo... ORPHA:91347
Mucopolysaccharidosis Type 2, Severe Form
Chronic diarrhea, Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Heart murmur... ORPHA:217085
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Gastroesophageal reflux ORPHA:449291
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hypospadias OMIM:123790
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Vesicoureteral reflux, Hypertens... ORPHA:95699
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Neurogenic bl... ORPHA:110
Mucopolysaccharidosis Type 2, Attenuated Form
Chronic diarrhea, Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Heart murmur... ORPHA:217093
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Gastroesophageal reflux, Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia OMIM:614653
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Hypertension, Arrhythmia, Tachycardia ORPHA:139411
Alexander Disease
Hypertension, Hypotension, Bowel incontinence, Constipation, Dysphagia, Sudden cardiac death ORPHA:58
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Hypertension, Proteinuria OMIM:311200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Myhre Syndrome
Epispadias, Abnormal penis morphology, Hypertension, Hypospadias ORPHA:2588
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypophosphatemic rickets, Hypertension, Medullary nephroca... ORPHA:51608
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Hypertension, Renal insufficiency, Renal cyst OMIM:613610
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Hypertension, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Congenital Disorder Of Glycosylation, Type Iim
Gastroesophageal reflux, Vesicovaginal fistula, Hypertension, Ureteropelvic junction obstruction,... OMIM:300896
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Hypertension, Hypertrophic cardiomyopathy, Vomiting, Hyperammonemia, Dysphagia, Mitr... OMIM:220111
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hypercholesterolemia OMIM:151660
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hypertension, Mitr... OMIM:614008
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Hunter-Macdonald Syndrome
Hypertension, Mitral regurgitation, Hypospadias, Aortic regurgitation OMIM:611962
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypertension, Transient ischemic attack, Hypovolemia, Suba... ORPHA:91387
Prader-Willi Syndrome
Vomiting, Xerostomia, Hypertension, Gastroparesis ORPHA:739
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Xq21 Microdeletion Syndrome
Hypertension, Renal artery stenosis ORPHA:1435
Smooth Muscle Dysfunction Syndrome
Hypoperistalsis, Hypertension, Pulmonary arterial hypertension OMIM:613834
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Hypertension, Cerebral ischemia, Intracranial hemorrhage, Pulmonary ... ORPHA:394
Cushing Disease
Increased urinary cortisol level, Myocardial infarction, Hypertension, Capillary fragility ORPHA:96253
Apert Syndrome
Hypertension ORPHA:87
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypospadias, Gastroesophageal reflux, Hy... ORPHA:567
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Acromegaly
Long penis, Dysuria, Hypertension, Hypertrophic cardiomyopathy, Wide penis, Mitral regurgitation ORPHA:963
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Shortened PR interval, Wolff-Parkinson-White syndrome OMIM:614947
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, H... ORPHA:99413
Turner Syndrome
Gastrointestinal inflammation, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, H... ORPHA:881
Mosaic Monosomy X
Gastrointestinal inflammation, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, H... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, H... ORPHA:99226
Atypical Werner Syndrome
Hypertriglyceridemia, Congestive heart failure, Renal neoplasm, Hypertension, Aortic valve stenos... ORPHA:79474
Marshall-Smith Syndrome
Premature ventricular contraction, Hypertension, Pulmonary arterial hypertension OMIM:602535
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gastroesophageal reflux, Polycystic kidney dysplasia, Hyperbilirubinemia, Hypertension, Renal cys... OMIM:210710
Somatomammotropinoma
Hypertrophic cardiomyopathy, Dysuria, Hypertension, Mitral regurgitation ORPHA:314769
Yunis-Varon Syndrome
Hypospadias, Hypertension, Renal artery stenosis, Cardiomyopathy, Pulmonary arterial hypertension... ORPHA:3472
Neurofibromatosis, Type I
Hypertension, Renal artery stenosis OMIM:162200
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypertension, Aortic regurgitation, Heart murmur ORPHA:402075
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Aortic regurgitation, Angina pectoris, Hypertension, Trans... ORPHA:740
Mucopolysaccharidosis Type 2
Chronic diarrhea, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:580
17Q11 Microdeletion Syndrome
Hypertension, Renal artery stenosis, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension... ORPHA:97685
Neurofibromatosis Type 1
Hypertension, Abnormality of the upper urinary tract ORPHA:636
Cushing Syndrome Due To Ectopic Acth Secretion
Diarrhea, Hypertension, Capillary fragility, Increased urinary cortisol level, Myocardial infarction ORPHA:99889
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Corneal neovascularization, Unilateral renal agenesis, Hypospadias, Hypertension, Renal agenesis,... OMIM:308205
Blau Syndrome
Pericarditis, Hypertension OMIM:186580
Vascular Ehlers-Danlos Syndrome
Hypospadias, Hypokalemia, Hypertension, Transient ischemic attack, Internal hemorrhage, Renovascu... ORPHA:286
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Hypertension, Hyperlipidemia, Recurrent cystitis, Sta... ORPHA:64
Adams-Oliver Syndrome 1
Pulmonic stenosis, Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension OMIM:100300
Keutel Syndrome
Pulmonic stenosis, Hypertension OMIM:245150
Carney Complex
Congestive heart failure, Hypertension 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 Guca2b

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 Guca2b.

No publications found that use IMPC mice or data for Guca2b.

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MGI Allele Allele Type Produced
Guca2btm380375(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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