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,  Hsn2,  EG406236

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Hypertension, Hyperchloremia, Hyperkalemia 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
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Hyper... OMIM:601894
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Lobular glomerulopathy, Nephropathy, Renal insufficiency, Proteinuria, Glomer... OMIM:137950
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... OMIM:616818
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... OMIM:300539
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Stage 5 chronic kidney disease... OMIM:612925
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612926
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:612922
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic... OMIM:161900
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia OMIM:616949
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia ORPHA:35710
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:203400
Nephrogenic Diabetes Insipidus
Hypovolemia, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladder, Re... ORPHA:223
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Hypotension, Myocarditis, Oliguria, Renal insuffici... ORPHA:188
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal sal... OMIM:610600
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Increased circulating renin level, Hypotension, Hyponatremia, Renal sodi... ORPHA:556037
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... ORPHA:94093
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:161950
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Arrhythmia, Oliguria, Renal insufficiency, Acute kidney inju... ORPHA:99845
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Hypernatremia, Megacystis OMIM:304800
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Oliguria, Renal insufficiency, Hypertensive crisis, Pulmonary arteria... ORPHA:220393
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Increased circulating renin level, Hypotension, Hyponatremia, Renal sodi... ORPHA:556030
Liddle Syndrome 3
Hypertension, Hypokalemia OMIM:618126
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... OMIM:300971
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:264350
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Oliguria, Dicarboxylic aciduria, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Microscopic Polyangiitis
Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomerulopathy, Gastrointestina... ORPHA:727
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Pal... ORPHA:340
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Aneurysm Of Sinus Of Valsalva
Oliguria, Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Familial Hypoaldosteronism
Proximal renal tubular acidosis, Orthostatic hypotension, Hypovolemia, Increased circulating reni... ORPHA:427
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia OMIM:615508
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Hereditary Coproporphyria
Dark urine, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Nephro... ORPHA:79273
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Facial palsy, Subarachnoid hemo... ORPHA:36382
Webb-Dattani Syndrome
Hydronephrosis, Vesicoureteral reflux, Neurogenic bladder, Hypernatremia OMIM:615926
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:177735
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension ORPHA:220
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage, Bicuspid aortic valve OMIM:300049
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Colchicine Poisoning
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Oliguria, Renal insufficien... ORPHA:31824
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Prolonged bleeding following circumcision, Subdural hemorrhage,... ORPHA:169802
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Hip contracture, Subdural hemorrhage, Subcutaneous hemorrhage, ... ORPHA:169805
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... OMIM:613845
Liddle Syndrome
Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension ORPHA:526
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Myocardial fibrosis, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... ORPHA:465
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Delayed puberty,... ORPHA:280679
Snakebite Envenomation
Muscle fiber necrosis, Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen... ORPHA:449285
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... OMIM:252011
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Myocardial infarction, Hypertension, Nephrocalcinosis, Congestive heart... OMIM:614473
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... ORPHA:331
Lassa Fever
Oliguria, Shock ORPHA:99824
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Congenital Isolated Acth Deficiency
Hypotension, Hyponatremia ORPHA:199296
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Pate... ORPHA:90308
Hemophilia A
Joint hemorrhage, Joint swelling, Bleeding with minor or no trauma, Intracranial hemorrhage, Intr... ORPHA:98878
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Short stature, Abnormal left ventricle morphology, Moyamoya phenomenon, Dila... OMIM:300845
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, S... OMIM:603278
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... ORPHA:411634
+173470 integrin, beta-3
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... OMIM:173470
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Oliguria, Shock, Renal insufficiency, Subconjunctival hemorrhage, Micro... ORPHA:319213
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Lacticaciduria, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypert... ORPHA:3008
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Intramuscular hematoma... OMIM:227500
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Sepsis In Premature Infants
Tachycardia, Hypotension, Reversible renal failure, Oliguria, Bradycardia ORPHA:90051
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Acute kidney in... ORPHA:542323
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Dural Sinus Malformation
Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor... ORPHA:97339
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia ORPHA:91354
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Acute kidney injury, Anuria, Hemolytic-uremic syndrome OMIM:235400
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage OMIM:614483
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Arteriovenous malformation, High-output congestive heart failure, Peri... ORPHA:137667
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... ORPHA:136
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Nephronophthisis-Like Nephropathy 2
Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, Stage 5 chron... OMIM:619468
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Arrhythmia, Hyponatremia, Hyperk... ORPHA:682
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Myocarditis, Oliguria, Acute kidney injury, Hypertensive crisis, Dec... ORPHA:544482
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Central Diabetes Insipidus
Nocturia, Hyponatremia ORPHA:178029
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Subdural hemorrhage, Persistent bleeding after trauma, Bruisin... OMIM:202400
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Intramuscular hematoma... OMIM:227600
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Upper limb muscle weakness, Vasculitis, Cerebral ischemia, Total... ORPHA:494424
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Hip contracture, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic card... ORPHA:464321
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Hypertension OMIM:123550
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:171876
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... OMIM:177850
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypote... ORPHA:173
Pseudo-Torch Syndrome 2
Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Patent ductus arteriosus, Pleural ... OMIM:617397
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Arrhythmia, Pulmonary embolism, Edema, Venou... ORPHA:624
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Infant Botulism
Hypotension, Cardiac arrest, Hypertension, Hyponatremia ORPHA:178478
Parkes Weber Syndrome
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:90307
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Nephrocalcin... OMIM:143880
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Familial Afibrinogenemia
Joint swelling, Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis ORPHA:98880
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polyuria, Hypercalciuria OMIM:613677
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... OMIM:618061
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Ethylene Glycol Poisoning
Renal tubular dysfunction, Tachycardia, Hematuria, Hypotension, Shock, Renal insufficiency, Renal... ORPHA:31826
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Pulmonary embolism, Abnormal glomerular visce... ORPHA:567548
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Fetal Gaucher Disease
Flexion contracture, Intracranial hemorrhage, Hydrops fetalis, Neonatal death, Arthrogryposis mul... ORPHA:85212
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... ORPHA:237
Bartter Syndrome, Type 3
Increased urinary potassium, Polyuria, Hypocalciuria, Hypotension, Renal potassium wasting, Hyper... OMIM:607364
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic ... ORPHA:79473
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Oliguria, Acute kid... ORPHA:466650
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, Enlarged kidn... ORPHA:731
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... ORPHA:251274
Legionnaires Disease
Arrhythmia, Hematuria, Myocarditis, Hypotension, Proteinuria, Hyponatremia, Renal insufficiency, ... ORPHA:549
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... ORPHA:31825
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... ORPHA:853
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri... ORPHA:100924
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia ORPHA:83601
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia, Hypertension OMIM:618114
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypotension, Hype... OMIM:145600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular septal defect, Second degree atrioventricular block, Ventric... ORPHA:369929
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Stroke, Intracranial hemorrhage ORPHA:140989
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... ORPHA:53719
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Acute Intermittent Porphyria
Dark urine, Dysuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic aci... ORPHA:79276
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Left ventricular non... OMIM:619167
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo... OMIM:618183
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, EMG: myopathic abnormalities, Sudden cardiac death, Dilated cardiomyopathy... ORPHA:99901
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Fetal megacystis, Pyeloneph... OMIM:619351
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Propionic Acidemia
Cerebellar hemorrhage, Short stature, Dehydration, Limb hypertonia, Cardiomyopathy OMIM:606054
Bartter Syndrome Type 4
Hyperprostaglandinuria, Impaired renal concentrating ability, Chronic kidney disease, Hypokalemia... ORPHA:89938
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Myocardial ... ORPHA:95409
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Hypotension, Hypernatriuria, Hyponatremia, Hypertrophic cardi... ORPHA:361
Hartsfield Syndrome
Hypospadias, Hypernatremia, Micropenis OMIM:615465
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Polyuria,... OMIM:248250
Necrotizing Enterocolitis
Hypotension, Shock, Hyponatremia, Bradycardia ORPHA:391673
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Gastroin... ORPHA:99828
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... ORPHA:324636
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Myocardial infarction, Acute kidney injury, Hypertension, Anuria ORPHA:90038
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Hy... ORPHA:2704
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Spinal arteriovenous malformation, Dil... OMIM:610655
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Renal insufficiency, Hypertension OMIM:177200
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Lymphedema, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Short stature OMIM:309400
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor... ORPHA:363618
Familial Dysautonomia
Abnormality of the kidney, Orthostatic hypotension, Tachycardia, Renal insufficiency, Hyponatremi... ORPHA:1764
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... OMIM:134600
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Whipple Disease
Myocarditis, Hypotension, Myocardial infarction, Hyponatremia, Gastrointestinal hemorrhage, Peric... ORPHA:3452
Menkes Disease
Abnormal carotid artery morphology, Intracranial hemorrhage, Aplasia/Hypoplasia of the abdominal ... ORPHA:565
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Pyelonephritis, Recurrent urinary tr... ORPHA:93110
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Abnormal lymphatic vessel morpho... ORPHA:464329
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Right axis deviation, Macroglo... OMIM:232300
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... ORPHA:774
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased circulating renin level, Hypotension, Penoscrotal hypospadias, Hyponatremi... ORPHA:90791
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Polyhydramnios, Intracranial hemorrhage, Stillbirth OMIM:241500
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Type 1 Diabetes Mellitus
Polyuria OMIM:222100
Cystinosis, Nephropathic
Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Hyponatremia... OMIM:219800
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Short stature, Intracranial... ORPHA:109
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hydronephrosis OMIM:304900
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Wolcott-Rallison Syndrome
Chronic kidney disease, Hyperbilirubinemia, Hyperammonemia, Renal insufficiency, Hyponatremia, Hy... ORPHA:1667
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites ORPHA:284227
Mirage Syndrome
Petechiae, Short stature, Intracranial hemorrhage, Patent ductus arteriosus, Intrauterine growth ... OMIM:617053
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Short s... ORPHA:536545
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia OMIM:263300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Short stature, Intracranial hemorrhage, Heart murmur, Ventricular septal de... ORPHA:163979
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... ORPHA:93108
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:403
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Pulmonary edema, Cerebral hemorrhage, Diffuse... ORPHA:90068
Familial Hyperaldosteronism Type Ii
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:404
Methylmalonic Acidemia With Homocystinuria Type Cblf
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morpho... ORPHA:79284
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Hypovolemia, Abnormal urine potassium concentrati... ORPHA:168558
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Gitelman Syndrome
Palpitations, Hypocalciuria, Polyuria, Nocturia, Hypotension, Ventricular tachycardia, Renal pota... OMIM:263800
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Aspergillosis
Intracranial hemorrhage, Stroke, Pleural effusion ORPHA:1163
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Hypovolemia, Abnormal urine potassium concentrati... ORPHA:289548
Immunodeficiency 82 With Systemic Inflammation
Vasculitis in the skin, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, H... OMIM:619381
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Alg8-Cdg
Hyponatremia ORPHA:79325
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass, Short stature OMIM:616507
Lysosomal Acid Lipase Deficiency
Hypovolemia, Abnormal urine potassium concentration, Hypotension, Hypertriglyceridemia, Hypernatr... ORPHA:275761
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stroke, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Dilated cardiomyop... ORPHA:79282
Pituitary Apoplexy
Hypotension, Hypertension, Hyponatremia ORPHA:95613
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... OMIM:613795
Adenohypophysitis
Orthostatic hypotension, Hyposthenuria, Hyponatremia ORPHA:95512
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Increased muscle lipid content, Dilated cardiomyopathy, Elbow flexion contracture, Kn... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Perry Syndrome
Hypotension ORPHA:178509
Addison Disease
Orthostatic hypotension, Increased circulating renin level, Hypotension, Hyponatremia, Hyperurice... ORPHA:85138
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Shock, Reduced left ventricular ejection fraction, Rena... ORPHA:99829
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... OMIM:613550
Shigellosis
Hypovolemic shock, Urethritis, Myocarditis, Abnormal blood ion concentration, Acute kidney injury... ORPHA:810
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Joint swelling, Vasculitis in the skin, Raynaud phenomenon, Intracra... ORPHA:3260
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Analbuminemia
Hypotension OMIM:616000
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Cerebral vasculitis, Growth delay, Subarachnoid hemorrhage OMIM:243700
Panhypophysitis
Orthostatic hypotension, Hyposthenuria, Hyponatremia ORPHA:95513
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Intracrania... ORPHA:906
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Hyponatremia ORPHA:293978
Hydranencephaly
Postnatal growth retardation, Abnormal internal carotid artery morphology, Abnormal cerebral arte... ORPHA:2177
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Hepatocellular Carcinoma
Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hypotension, Hypoalbuminemia, Hypercalcemi... ORPHA:88673
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Palpitations, Hypertension, Epistaxis ORPHA:231625
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Sheehan Syndrome
Orthostatic hypotension, Hyposthenuria, Palpitations, Hyponatremia, Bradycardia ORPHA:91355
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Internal hemorrhage, Pleural effusion, General... ORPHA:244242
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... ORPHA:391665
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polyuria, Hypocalciuria, Renal sodium wasting, Renal potassium wasting, Enuresis, Renal salt wasting OMIM:612780
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Abnormal mitral valve morphology, Stroke, Myocardial infarction, Ventricular hyp... ORPHA:740
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Flexion contracture, Mild... ORPHA:90324
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Nipah Virus Disease
Hypotension ORPHA:99825
Phace Syndrome
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Coarctation of aorta, Tet... ORPHA:42775
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Increased urinary potassium, Renal juxtaglomerular cell hypertrophy/hyper... OMIM:601678
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Teratoma, Pineal
Polyuria OMIM:273120
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
Classic Homocystinuria
Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Pulmonary embolism,... ORPHA:394
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Chronic kidney disease, Hypophosphatemia, Bica... ORPHA:3337
Alg12-Cdg
Micropenis, Hypospadias, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Short stature, Intrauterine growth retardation, Subdural hemorrhage, Skeletal muscle hypertrophy OMIM:619714
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Hypovolemia, Hyperkalemia, Hypotension, Long penis, Hypernatriuria, Sho... ORPHA:90794
Bardet-Biedl Syndrome 17
Renal cyst, Polyuria, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Abnormal renal... ORPHA:534
Osteogenesis Imperfecta
Cerebral hemorrhage, Bruising susceptibility, Flexion contracture, Short stature, Arterial dissec... ORPHA:666
Adult Acute Respiratory Distress Syndrome
Vasculitis, Shock, Hypotension ORPHA:70578
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Arteriovenous malformation, Growth delay, Hepatic arteriovenous malfo... ORPHA:2929
Helix Syndrome
Nephrolithiasis, Polyuria, Hypocalciuria, Renal insufficiency OMIM:617671
Neuroendocrine Tumor Of The Colon
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial tel... ORPHA:100080
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy OMIM:560000
Arachnoid Cyst
Encephalocele, Subarachnoid hemorrhage, Lower limb muscle weakness, Facial palsy ORPHA:2356
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Superficial Siderosis
Arteriovenous malformation, Persistent bleeding after trauma, Abnormal bleeding, Abnormal vertebr... ORPHA:247245
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension ORPHA:79455
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Intraventricular hemorrhage, Intrauterine growth retardation, Prolonged prothromb... OMIM:619055
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Increased urinary potassium, Renal juxtaglomerular cell hypertrophy/hyper... OMIM:241200
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Holoprosencephaly
Hypoplasia of penis, Abnormality of the urinary system, Arrhythmia, Proteinuria, Hyponatremia ORPHA:2162
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia... ORPHA:167
Neuroendocrine Tumor Of The Rectum
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100082
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria OMIM:239200
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Japanese Encephalitis
Hyponatremia ORPHA:79139
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage, Short stature ORPHA:90795
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Intraventricular hemorrhage, Hand... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Intraventricular hemorrhage, Hand... ORPHA:363958
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Nelson Syndrome
Hypertension, Intracranial hemorrhage, Quadriceps muscle atrophy, Lower limb muscle weakness ORPHA:199244
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Abnormal left ventricular function, Hypocalcemia, A... OMIM:619991
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogenic shock, Hypotension,... ORPHA:97287
Dpagt1-Cdg
Flexion contracture, Intracranial hemorrhage, Camptodactyly, Anasarca, Prolonged QT interval, Str... ORPHA:86309
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Acute Liver Failure
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Shock, Gastroin... ORPHA:90062
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Trichorhinophalangeal Syndrome, Type Ii
Growth delay, Bicuspid aortic valve, Mild postnatal growth retardation, Right ventricular hypertr... OMIM:150230
Neuroendocrine Tumor Of Stomach
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... ORPHA:100075
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100077
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Aa Amyloidosis
Hypotension ORPHA:85445
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Short stature, Intracranial hemorrhage, Branchial fistula, Contr... OMIM:613406
Meningioma
Cerebral hemorrhage, Upper limb muscle weakness, Lower limb muscle weakness, Syncope, Facial palsy ORPHA:2495
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Hypotension ORPHA:98850
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia, Short stature ORPHA:420741
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Upper limb muscle weakness, Dista... ORPHA:139417
Congenital Hypothyroidism
Hypertension, Arrhythmia, Hypotension ORPHA:442
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia, Enuresis ORPHA:293987
Mastocytosis
Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Hypotension ORPHA:98292
Congenital Enterovirus Infection
Hypotension, Cardiomyopathy, Myocarditis ORPHA:292
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Duodenal Neuroendocrine Tumor
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... ORPHA:100076
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arter... ORPHA:286
Marburg Hemorrhagic Fever
Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... ORPHA:99826
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Corneal neovascularization, Facial paralysis, Retinal hemorrhage, Retinal ar... OMIM:175780
Bacterial Toxic-Shock Syndrome
Tachycardia, Hypotension, Myocarditis, Shock, Capillary leak ORPHA:36234
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Poliomyelitis
Hypertension, Hypotension, Hypovolemic shock ORPHA:2912
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Arrhythmia, Hypotension ORPHA:2135
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Visceral Steatosis, Congenital
Abnormal bleeding, Myocardial steatosis, Neonatal death OMIM:228100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Internal hemorrhage, Aortic aneurysm, Pulmonary lymphangiomyomatosis, Hypert... ORPHA:805
Autosomal Dominant Hypocalcemia
Arrhythmia, Hypotension, Congestive heart failure ORPHA:428
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Pmm2-Cdg
Angina pectoris, Multiple joint contractures, Intracranial hemorrhage, Lymphedema, Anasarca, Peri... ORPHA:79318
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Alexander Disease
Hypertension, Sudden cardiac death, Hypotension ORPHA:58
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Zttk Syndrome
Unilateral renal agenesis, Polyuria, Aortic regurgitation, Horseshoe kidney OMIM:617140
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Polyuria, Pulmonary arterial hypertension, Hypertension OMIM:606721
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Palpitations, Hypotension, Heart murmur ORPHA:100079
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Prolactinoma
Hypotension ORPHA:2965
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Prominent U wa... ORPHA:358
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Subconjunctival hemorrhage, Pe... ORPHA:509
Plague
Tachycardia, Arrhythmia, Hematemesis, Hypotension 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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