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Gene: Wnk1 MGI:2442092

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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:
WNK lysine deficient protein kinase 1
Synonyms:
6430573H23Rik,  Prkwnk1,  EG406236,  Hsn2

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 Wnk1 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.

The table below shows human diseases associated to Wnk1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614492
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
OMIM:201300

The table below shows human diseases predicted to be associated to Wnk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Hypertension, Microscopic hematuria, Stage 5... OMIM:137950
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... OMIM:616818
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Hyponatremia, Decreased circulating renin level... OMIM:300539
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:613944
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephrit... OMIM:161900
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia OMIM:616949
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Renal salt wasting, Increased circulating renin level, Hyperkalemia OMIM:203400
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Functional abnormality of the bladder, En... ORPHA:223
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Hyponatremia, Renal salt wasting, Increased circulating renin level, Hyp... OMIM:610600
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Hypotension, Oliguria, Myocarditis, R... ORPHA:188
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhag... ORPHA:340
Renal Tubular Dysgenesis
Anuria, Hypotension, Abnormality of the urinary system, Renotubular dysgenesis OMIM:267430
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Renal sodi... ORPHA:556037
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Microscopic... ORPHA:54370
Yellow Fever
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Nephropathy, Oliguria, Congestive heart fai... ORPHA:99829
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:161950
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Acute kidney injury, Hypotension, Hypernatremia, Hyponatremia, Elevated... ORPHA:94093
Aneurysm, Intracranial Berry, 12
Arterial fibromuscular dysplasia, Internal carotid artery dissection, Subarachnoid hemorrhage, Ce... OMIM:618734
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Megacystis, Polyuria OMIM:304800
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Liddle Syndrome 3
Hypokalemia, Hypertension OMIM:618126
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Renal sodi... ORPHA:556030
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Telangiectasia of the skin, Oliguria, Congestive heart failure, Pulmonary ar... ORPHA:220393
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hypotension, Hyponatremia, Renal salt wasting OMIM:264350
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Ventricular tachycardia, Oliguria, Dicarboxylic aciduria, Cardiomyopathy ORPHA:159
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Microscopic Polyangiitis
Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Glomerulopathy, Olig... ORPHA:727
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Denys-Drash Syndrome
Hypertension, Nephropathy, Nephroblastoma, Nephrotic syndrome, Proteinuria ORPHA:220
Aneurysm Of Sinus Of Valsalva
Oliguria, Heart murmur, Congestive heart failure, Aortic regurgitation ORPHA:1054
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... ORPHA:427
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Pulmonic stenosis OMIM:615508
Familial Cervical Artery Dissection
Carotid artery dilatation, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, ... ORPHA:36382
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level OMIM:177735
Webb-Dattani Syndrome
Neurogenic bladder, Hypernatremia, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Hereditary Coproporphyria
Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Nephropathy, Tachycardia, A... ORPHA:79273
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Oliguria, Congestive heart failure, Myoc... ORPHA:31824
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Liddle Syndrome
Arrhythmia, Nephropathy, Hypertension, Hypokalemia, Cerebral ischemia, Renal insufficiency ORPHA:526
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pulmonary arterial hypertension, Hyperuricemia, Polyuria, Renal salt wasting, Chron... OMIM:613845
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Hypertension, Delayed pube... ORPHA:280679
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Hypertension, Myocardial infarction, Congestive heart failure, Nephroca... OMIM:614473
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Rhabdomyo... ORPHA:449285
Congenital Isolated Acth Deficiency
Hypotension, Hyponatremia ORPHA:199296
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Klippel-Trénaunay Syndrome
Atrial septal defect, Prolonged bleeding time, Hydrops fetalis, Gastrointestinal hemorrhage, Inte... ORPHA:90308
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Stroke-like episode, Abnormal left ventricle morphology... OMIM:300845
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Myocardial fibrosis, Joint he... ORPHA:465
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease... OMIM:603278
Cerebral Cavernous Malformations
Intracranial hemorrhage OMIM:116860
Congenital Factor Xiii Deficiency
Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage,... ORPHA:331
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Tachycardia, Heart block... ORPHA:542323
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypovo... ORPHA:411634
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium,... OMIM:602522
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Amyloidosis, Familial Visceral
Hematuria, Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria OMIM:105200
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Sepsis In Premature Infants
Hypotension, Reversible renal failure, Oliguria, Tachycardia, Bradycardia ORPHA:90051
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Bicuspid aortic val... OMIM:613426
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Hypotension, Glomerular sclerosis, Renal salt wast... OMIM:174000
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Stroke, Cerebral hemorrhage, Cerebral isc... ORPHA:136
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Nephrocalcinosis, Nephrolithi... OMIM:143880
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, ... OMIM:227500
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia ORPHA:91354
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Bartter Syndrome, Type 3
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal... OMIM:607364
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria, Hypertension OMIM:613677
Hyperkalemic Periodic Paralysis
Arrhythmia, Hyponatremia, Hypokalemia, Congestive heart failure, Elevated circulating creatine ki... ORPHA:682
Ethylene Glycol Poisoning
Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosis, Atrial fibr... ORPHA:31826
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Acute kidney injury, Hypertension OMIM:235400
Central Diabetes Insipidus
Nocturia, Hyponatremia ORPHA:178029
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Nephrotic range proteinuria, Hypertensive crisis, Hypertension, Olig... ORPHA:544482
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Capillary Malformation-Arteriovenous Malformation
Abnormality of the musculature of the limbs, Abnormal bleeding, Arteriovenous fistula, Cerebral a... ORPHA:137667
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Hypovolemic shock, Hyperkalemia ORPHA:171876
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Familial Multiple Nevi Flammei
Arrhythmia, Intracranial hemorrhage, Pulmonary embolism, Edema, Arteriovenous malformation, Venou... ORPHA:624
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, I... ORPHA:79
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Hypertension, Chronic kidney disease, Proteinuria OMIM:123550
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Hypertension, Stage 5 chronic kidney d... OMIM:618061
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, Menorrhagia, Gingiv... OMIM:227600
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Pseudoxanthoma Elasticum, Forme Fruste
Peau d'orange, Gastrointestinal hemorrhage, Angina pectoris, Medial calcification of medium-sized... OMIM:177850
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Hypertens... ORPHA:494424
Infant Botulism
Hypotension, Hyponatremia, Cardiac arrest, Hypertension ORPHA:178478
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... ORPHA:90065
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hypotension, Hyponatremia, Abn... ORPHA:173
Porphyria Variegata
Neurogenic bladder, Elevated urinary delta-aminolevulinic acid, Hyponatremia, Hypertension, Tachy... ORPHA:79473
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Facial palsy, Hypertension OMIM:182410
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Gastrointestinal hemorrhage, Enlarged kidney, Recurrent urinary tract infect... ORPHA:731
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Menkes Disease
Intracranial hemorrhage, Short stature, Intrauterine growth retardation OMIM:309400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr... ORPHA:99147
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Hypertension, Glomerular basement membrane lamellation, Stage 5 c... OMIM:203780
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, R... OMIM:248250
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Hydrops fetalis, Stillbirth, Intracranial hemorrhage, Flexion... ORPHA:85212
Exercise-Induced Malignant Hyperthermia
Abnormal pulse pressure, Acute kidney injury, Hypotension, Sinus tachycardia, ST segment depressi... ORPHA:466650
Legionnaires Disease
Arrhythmia, Hematuria, Pericarditis, Hypotension, Hyponatremia, Myocarditis, Renal insufficiency,... ORPHA:549
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Ascites, Bradycardia OMIM:617397
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulat... ORPHA:100924
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Left ventricular hypertrophy, Prolonged QT inte... ORPHA:251274
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Cerebral vasculitis, Stroke ORPHA:140989
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Vascular dilatation, Cerebral hemorrhage, Peripheral arteriov... ORPHA:53719
Acute Intermittent Porphyria
Dysuria, Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Hypertension, Urin... ORPHA:79276
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Neonatal de... OMIM:619167
Duplication Of Urethra
Dysuria, Unilateral renal hypoplasia, Bladder duplication, Penile hypospadias, Rectourethral fist... ORPHA:237
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Hartsfield Syndrome
Hypernatremia, Micropenis, Hypospadias OMIM:615465
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Familial Glucocorticoid Deficiency
Hypotension, Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Renal salt wasting... ORPHA:361
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Episodic hypokalemia, Hypomagnesemia, Nephrocal... ORPHA:564178
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Hyperuricemia, Increased circula... ORPHA:95409
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hyponatremia, Polyuria, Hypertriglyceridemia, Renal dysplasia, Hypoal... OMIM:618183
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failu... ORPHA:99901
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Necrotizing Enterocolitis
Hypotension, Hyponatremia, Bradycardia, Shock ORPHA:391673
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hype... OMIM:145600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Elevated pulmonary artery pressure,... OMIM:619351
Parkes Weber Syndrome
Abnormal bleeding, Arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemor... ORPHA:90307
Type 1 Diabetes Mellitus
Polyuria OMIM:222100
Familial Afibrinogenemia
Abnormal bleeding, Joint swelling, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Cerebral Cavernous Malformations 3
Cerebral hemorrhage OMIM:603285
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebral hemorrhage, Ascites, Bru... ORPHA:99828
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... ORPHA:2704
Diabetes Insipidus, Neurohypophyseal Type
Polyuria, Hydronephrosis OMIM:304900
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Oral cavity bleeding, Int... ORPHA:324636
Propionic Acidemia
Cerebellar hemorrhage, Dehydration, Limb hypertonia, Short stature, Cardiomyopathy OMIM:606054
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased circulating re... ORPHA:89938
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia, Hypertension OMIM:177200
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Pulmonary arteriovenous malform... OMIM:610655
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Aortic atherosclero... ORPHA:363618
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Hemoglobinuria, Hypertension, Myocardial infarction ORPHA:90038
Familial Dysautonomia
Orthostatic hypotension, Hyponatremia, Hypertension, Glomerulopathy, Tachycardia, Renal insuffici... ORPHA:1764
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... ORPHA:101016
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Hypertension, Uni... ORPHA:93110
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Hyponatremia, Myocardial infarction, Myoc... ORPHA:3452
Menkes Disease
Abnormal carotid artery morphology, Gastrointestinal hemorrhage, Intracranial hemorrhage, Spontan... ORPHA:565
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Abnorma... ORPHA:464329
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Hyponatremia, Increased circulating renin level, Renal salt wasting, Penoscrotal hyp... ORPHA:90791
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Lymphedema, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic aneurysm, Mitral valve prolapse, Hematochezia, Pulmonary arteriovenous malformation, Cereb... OMIM:175050
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Tachycardia, Gingival bleeding, Right ventricular hypertr... ORPHA:335
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Hypophosphatasia, Infantile
Intracranial hemorrhage, Disproportionate short-limb short stature, Polyhydramnios, Stillbirth OMIM:241500
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ... OMIM:263800
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Umbilical hernia, Dextrocardia, Bicuspid... ORPHA:536545
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Petechiae, Short stature, Intrauterine growth ... OMIM:617053
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Hypertension, Glomerulonephritis, Glomerular basement membrane la... OMIM:104200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Intracranial hemorrhage... ORPHA:163979
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Cer... OMIM:187300
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyponatremia, Chronic kidney disease, Hypoalbuminemia, Renal insufficiency, H... ORPHA:1667
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Cerebral hemorrhage, Stroke OMIM:263400
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Telangiectasia, Lymphedema, Myopathy, Short stature, Ar... ORPHA:109
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
Tempi Syndrome
Intracranial hemorrhage, Ascites, Telangiectasia, Transudative pleural effusion ORPHA:284227
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Hypovolemia, Hypotension, Hypernatriuria, Hyponat... ORPHA:168558
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Polycythemia Vera
Cerebral hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Gastrointestinal hemorrhage OMIM:263300
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay, Intraventricular hemorrhage, Abnormal heart morpho... ORPHA:79284
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Oligohydramnios, Increased muscle lipid content, ... OMIM:608836
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Hypovolemia, Hypotension, Hypernatriuria, Hyponat... ORPHA:289548
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypercalcemia ORPHA:199299
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Cer... OMIM:600376
Addison Disease
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Increased circulating renin le... ORPHA:85138
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Pituitary Apoplexy
Hypotension, Hyponatremia, Hypertension ORPHA:95613
Adenohypophysitis
Hyponatremia, Hyposthenuria, Orthostatic hypotension ORPHA:95512
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Stroke ORPHA:1163
Shigellosis
Acute kidney injury, Hyponatremia, Abnormal blood ion concentration, Hemolytic-uremic syndrome, H... ORPHA:810
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypovolemia, Hypotension, Hypernatriuria, Hyponatremia, Abnormal urine pota... ORPHA:275761
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart morphology, Subdural hemorrhage, Growth d... ORPHA:79282
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Renal sodium wasting OMIM:612780
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Intraventricular hemorrhage, Short stature OMIM:616507
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Camptodactyly, Patent ductus arteriosus, Thoracic aortic aneurysm, Mitra... OMIM:613795
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Perry Syndrome
Hypotension ORPHA:178509
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Supraventricular arrhythmia, Intracranial hemorrhage, Pleural effusion, Vasculiti... ORPHA:3260
Panhypophysitis
Hyponatremia, Hyposthenuria, Orthostatic hypotension ORPHA:95513
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Hyponatremia ORPHA:293978
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Delayed puberty, Right... OMIM:300967
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Analbuminemia
Hypotension OMIM:616000
Sheehan Syndrome
Palpitations, Hyposthenuria, Orthostatic hypotension, Hyponatremia, Bradycardia ORPHA:91355
Teratoma, Pineal
Polyuria OMIM:273120
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Low-to-normal blood pressure, Polyuria, Renal juxtaglomer... OMIM:601678
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Cystinosis, Nephropathic
Decreased plasma carnitine, Generalized aminoaciduria, Hypophosphatemic rickets, Hyponatremia, Po... OMIM:219800
Hydranencephaly
Antenatal intracerebral hemorrhage, Postnatal growth retardation, Abnormal cerebral artery morpho... ORPHA:2177
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Pulmonary arterial hypertension, Transient isch... ORPHA:740
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Abnormal left ventricular function, Cerebral artery atherosclerosis, Pr... ORPHA:391665
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Helix Syndrome
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria OMIM:617671
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Cockayne Syndrome Type 3
Premature coronary artery atherosclerosis, Subdural hemorrhage, Flexion contracture, Stroke, Mild... ORPHA:90324
Hepatocellular Carcinoma
Internal hemorrhage, Hypotension, Hyperbilirubinemia, Hyponatremia, Budd-Chiari syndrome, Hypokal... ORPHA:88673
Hellp Syndrome
Internal hemorrhage, Hypotension, Pleural effusion, Cerebral hemorrhage, Pulmonary edema, General... ORPHA:244242
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ... ORPHA:394
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Polyuria, Aminoaciduria, Hyperphosphaturia OMIM:239200
Nipah Virus Disease
Hypotension ORPHA:99825
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Low-to-normal blood pressure, Polyuria, Renal juxtaglomer... OMIM:241200
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Osteogenesis Imperfecta
Aortic regurgitation, Mitral valve prolapse, Abnormal endocardium morphology, Rhizomelia, Growth ... ORPHA:666
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Long penis, Hypovolemia, Hypotension, Hypernatriuria, Hyponatremia, Hyp... ORPHA:90794
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Multiple renal cysts, Hematuria, Abnormal ... ORPHA:534
Juvenile Polyposis Syndrome
Anasarca, Gastrointestinal hemorrhage, Hematochezia, Spontaneous, recurrent epistaxis, Pulmonary ... ORPHA:2929
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Abnormal vertebral artery morphology, Intern... ORPHA:247245
Holoprosencephaly
Arrhythmia, Abnormality of the urinary system, Hyponatremia, Hypoplasia of penis, Proteinuria ORPHA:2162
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation, Melena, Facial tel... ORPHA:100080
Adult Acute Respiratory Distress Syndrome
Hypotension, Vasculitis, Shock ORPHA:70578
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Epistaxis, Hypertrig... ORPHA:167
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Neonatal death, Intraventricular hemorrhage, Prolonged prothromb... OMIM:619055
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Abnormal heart morphology, Ventr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Abnormal heart morphology, Ventr... ORPHA:363958
Japanese Encephalitis
Hyponatremia ORPHA:79139
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Short stature, Hypertension ORPHA:90795
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100082
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation,... ORPHA:97287
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Increased renal tubular phosphate ... OMIM:211900
Nelson Syndrome
Intracranial hemorrhage, Lower limb muscle weakness, Hypertension, Quadriceps muscle atrophy ORPHA:199244
Acys Amyloidosis
Cerebral hemorrhage, Stroke ORPHA:100008
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension, Shock, Cere... ORPHA:90062
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
Aa Amyloidosis
Hypotension ORPHA:85445
Meningococcal Meningitis
Hypotension, Shock ORPHA:33475
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Enuresis ORPHA:293987
Meningioma
Lower limb muscle weakness, Syncope, Cerebral hemorrhage, Facial palsy, Upper limb muscle weakness ORPHA:2495
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, Hypotension, Tricuspid r... ORPHA:100075
Congenital Hypothyroidism
Hypotension, Arrhythmia, Hypertension ORPHA:442
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Riddle Syndrome
Conjunctival telangiectasia, Telangiectasia, Intraventricular hemorrhage, Short stature ORPHA:420741
Congenital Enterovirus Infection
Hypotension, Cardiomyopathy, Myocarditis ORPHA:292
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Peripheral arteriovenous fistula, Arteriovenous fistulas of celiac and mes... ORPHA:286
Mastocytosis
Hypotension, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin ORPHA:98292
Aggressive Systemic Mastocytosis
Hypotension, Portal hypertension, Gastrointestinal hemorrhage ORPHA:98850
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hematemesis, Hypotension,... ORPHA:100076
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock ORPHA:36238
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Poliomyelitis
Hypotension, Hypertension, Hypovolemic shock ORPHA:2912
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Bacterial Toxic-Shock Syndrome
Hypotension, Tachycardia, Shock, Myocarditis, Capillary leak ORPHA:36234
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Aortic regurgitation, Polyuria OMIM:617140
Visceral Steatosis, Congenital
Abnormal bleeding, Neonatal death, Myocardial steatosis OMIM:228100
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Internal hemorrhage, Hypertension, Pulmonary lymphangiomyomatosis, Aortic an... ORPHA:805
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia ORPHA:289176
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Syncope ORPHA:98849
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Facial paralysis, Cerebral hemorrhage, Corneal neovascularization, Retinal arter... OMIM:175780
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Cardiac arrest ORPHA:20
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Pmm2-Cdg
Anasarca, Pericarditis, Angina pectoris, Intracranial hemorrhage, Pericardial effusion, Lymphedem... ORPHA:79318
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Alexander Disease
Sudden cardiac death, Hypotension, Hypertension ORPHA:58
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Heart murmur, Tricuspid stenosis ORPHA:100079
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Prolactinoma
Hypotension ORPHA:2965
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Gitelman Syndrome
Palpitations, Low-to-normal blood pressure, ST segment depression, Prominent U wave, Abnormal T-w... ORPHA:358
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, First de... ORPHA:509
Plague
Hypotension, Arrhythmia, Tachycardia, Hematemesis ORPHA:707
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
OMIM:201300

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 Wnk1

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 Wnk1.

No publications found that use IMPC mice or data for Wnk1.

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MGI Allele Allele Type Produced
Wnk1tm82551(L1L2_Bact_P) Targeting vectors

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