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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,  Hsn2,  EG406236

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, Decreased circulating renin level 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
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... ORPHA:976
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... OMIM:612925
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612924
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612926
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... OMIM:615751
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... OMIM:300539
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... ORPHA:97362
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... ORPHA:223
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Increased circulating re... OMIM:610600
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentration, Urina... ORPHA:94093
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556037
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Megacystis, Polyuria OMIM:304800
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... ORPHA:220393
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension, Renal salt wasting OMIM:264350
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges... ORPHA:727
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur ORPHA:1054
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... ORPHA:84090
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556030
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... OMIM:617610
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu... ORPHA:36382
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... ORPHA:427
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:177735
Denys-Drash Syndrome
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma ORPHA:220
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Colchicine Poisoning
Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Oliguria, Hypotension, C... ORPHA:31824
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypotension ORPHA:199296
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b... ORPHA:169805
Webb-Dattani Syndrome
Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis OMIM:615926
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... ORPHA:169802
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... ORPHA:449285
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... OMIM:252011
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... ORPHA:280679
Hereditary Coproporphyria
Hyponatremia, Dark urine, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... ORPHA:79273
Lassa Fever
Shock, Oliguria ORPHA:99824
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... ORPHA:90308
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis OMIM:615508
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ... OMIM:227500
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke OMIM:182410
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Myocarditis, Oliguria, Subconjunctival hemorrhage, Bradycardia, Hypot... ORPHA:319213
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Sepsis In Premature Infants
Tachycardia, Oliguria, Bradycardia, Reversible renal failure, Hypotension ORPHA:90051
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Lacticaciduria, Hyperammonemia, Hy... ORPHA:3008
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... ORPHA:97339
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma... OMIM:300845
Central Diabetes Insipidus
Hyponatremia, Nocturia ORPHA:178029
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury OMIM:235400
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:614736
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Infection-Related Hemolytic Uremic Syndrome
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... ORPHA:544482
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ... ORPHA:494424
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia ORPHA:171876
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Hyperaldosteronism, Familial, Type Iii
Hypertension, Polyuria, Hypercalciuria OMIM:613677
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... ORPHA:173
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Porphyria Variegata
Hyponatremia, Tachycardia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chro... ORPHA:79473
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Fetal Gaucher Disease
Flexion contracture, Hydrops fetalis, Intracranial hemorrhage, Stillbirth, Neonatal death, Arthro... ORPHA:85212
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:143880
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... ORPHA:31826
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Liddle Syndrome 1
Hypertension, Hypokalemia, Renal insufficiency, Decreased circulating renin level OMIM:177200
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Oliguria, ST segment depression, Hypotension, Abnorma... ORPHA:466650
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... ORPHA:731
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac... OMIM:619167
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Polyhydramnios, Flexion contracture, Subdur... OMIM:618291
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618126
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension, Gro... OMIM:614424
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Hematuria, Hypotension... ORPHA:549
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Propionic Acidemia
Short stature, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Limb hypertonia OMIM:606054
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In... ORPHA:100924
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Acute Intermittent Porphyria
Hyponatremia, Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphy... ORPHA:79276
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokalemia, Aminoaci... OMIM:617913
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting OMIM:618314
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Urethral obstructi... ORPHA:2704
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium OMIM:611489
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Hypernatriuri... ORPHA:361
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Renal insufficiency, Hypercalcemia, Myocardial infarction,... ORPHA:95409
Lethal Congenital Contracture Syndrome 5
Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrh... OMIM:615368
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Congest... ORPHA:247353
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Oral cavity bleeding, Men... ORPHA:324636
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... ORPHA:99828
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Necrotizing Enterocolitis
Hyponatremia, Shock, Bradycardia, Hypotension ORPHA:391673
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury ORPHA:90038
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal telangiectasia OMIM:620157
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:251000
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Lymphedema ORPHA:3226
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Short stature OMIM:309400
Hartsfield Syndrome
Micropenis, Hypernatremia, Hypospadias OMIM:615465
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormal... ORPHA:1764
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... OMIM:232300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, H... ORPHA:90791
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypoma... OMIM:618183
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... ORPHA:464329
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural... OMIM:620278
Type 1 Diabetes Mellitus
Polyuria OMIM:222100
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypocalciuria, Renal sodium wasting, Renal ... OMIM:612780
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:565
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypo... ORPHA:3452
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth, Disproportionate short-limb short stature, Polyhydramnios OMIM:241500
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Tarp Syndrome
Subdural hemorrhage, Neonatal death, Atrial septal defect, Intrauterine growth retardation, Tetra... OMIM:311900
Stormorken Syndrome
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Myopat... OMIM:185070
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Short stature, Lymphedema, Telangiectasia, Intracranial... ORPHA:109
Cystinosis, Nephropathic
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia, Proteinur... OMIM:219800
Mirage Syndrome
Short stature, Patent ductus arteriosus, Intracranial hemorrhage, Intrauterine growth retardation... OMIM:617053
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Hyper... ORPHA:1667
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension ORPHA:199299
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Short stature, Increased nuchal translucency, Limb hypertonia, Fetal intraventricular hemorrhage,... OMIM:618480
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Heart murmur, Intracranial he... ORPHA:163979
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia ORPHA:284227
Methylmalonic Acidemia With Homocystinuria Type Cblf
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morpho... ORPHA:79284
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature,... ORPHA:536545
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c... OMIM:619381
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... OMIM:201810
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Stroke ORPHA:1163
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo... OMIM:263800
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Hypovolemia, Abnormal urine potassium concentrati... ORPHA:168558
Alg8-Cdg
Hyponatremia ORPHA:79325
Perry Syndrome
Hypotension ORPHA:178509
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Hypovolemia, Abnormal urine potassium concentrati... ORPHA:289548
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Hyposthenuria ORPHA:95512
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hypovolemia, Hyperkalemia, Abnormal urine... ORPHA:275761
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion contracture, ... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension ORPHA:95613
Yellow Fever
Shock, Renal insufficiency, Anuria, Supraventricular arrhythmia, Hematemesis, Capillary leak, Red... ORPHA:99829
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Addison Disease
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Renal salt wasting, Decreased urinary potas... ORPHA:85138
Shigellosis
Hyponatremia, Hemolytic-uremic syndrome, Myocarditis, Urethritis, Abnormal blood ion concentratio... ORPHA:810
Analbuminemia
Hypotension OMIM:616000
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Hyposthenuria ORPHA:95513
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... ORPHA:3260
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Growth delay, Subarachnoid hemorrhage OMIM:243700
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Rabin-Pappas Syndrome
Hyponatremia, Retinal telangiectasia OMIM:620155
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... ORPHA:244242
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Hyposthenuria, Palpitations, Bradycardia ORPHA:91355
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Hydranencephaly
Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent... ORPHA:2177
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Nipah Virus Disease
Hypotension ORPHA:99825
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Carotid artery occlusion, Mit... ORPHA:740
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Mild postnatal growth retardation, Flexion contracture, Subdural hemorrh... ORPHA:90324
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... OMIM:601678
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent... OMIM:610505
Teratoma, Pineal
Polyuria OMIM:273120
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... OMIM:243910
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia, Hypotension ORPHA:293978
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Alg12-Cdg
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis ORPHA:79324
Superficial Siderosis
Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Abnormal vertebral artery... ORPHA:247245
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Patent urachus OMIM:618252
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... ORPHA:534
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... ORPHA:100080
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy, Intrauterine growth retardation, Subdural hemorrhage, Short stature OMIM:619714
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Shock, Renal salt wasting, Long penis, Hypovolemia, Hyperkalemia, Elevated urinary ... ORPHA:90794
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Helix Syndrome
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria OMIM:617671
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Short stature, Rhizomelia, Cerebral hemorr... ORPHA:666
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time, Intrauterine growth reta... OMIM:619055
Arachnoid Cyst
Encephalocele, Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage ORPHA:2356
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... OMIM:241200
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100082
Hyperparathyroidism, Neonatal Severe
Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria OMIM:239200
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Short stature ORPHA:90795
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... ORPHA:363958
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass, Short stature OMIM:616507
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Abnormality of the urinary system, Arrhythmia ORPHA:2162
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Hypo... ORPHA:167
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Short stature OMIM:616430
Japanese Encephalitis
Hyponatremia ORPHA:79139
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Lower limb muscle weakness, Quadriceps muscle atrophy ORPHA:199244
Dpagt1-Cdg
Prolonged QT interval, Flexion contracture, Stroke-like episode, Intracranial hemorrhage, Anasarc... ORPHA:86309
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens... ORPHA:97287
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Polyhydramnios OMIM:613603
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... ORPHA:90062
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... ORPHA:100075
Trichorhinophalangeal Syndrome, Type Ii
Scapular winging, Internal carotid artery dissection, Bicuspid aortic valve, Mild postnatal growt... OMIM:150230
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Aa Amyloidosis
Hypotension ORPHA:85445
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Congenital diaphragmatic hernia, Polyhydramnios, Contracture of... OMIM:613406
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Meningioma
Facial palsy, Cerebral hemorrhage, Upper limb muscle weakness, Syncope, Lower limb muscle weakness ORPHA:2495
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Short stature, Telangiectasia ORPHA:420741
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Enuresis, Hyperlipidemia, Hyperkalemia ORPHA:293987
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... OMIM:211900
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Dista... ORPHA:139417
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypospadias, Vesicovaginal fistula, Hyperkalemia, Horseshoe kidney, Hypertension, C... OMIM:201750
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Short stature, Varicose... ORPHA:286
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... ORPHA:99826
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... OMIM:175780
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hypertension, Pulmonary lymphangiomyomatosis, Internal hemorrhage, Aortic an... ORPHA:805
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int... ORPHA:79318
Neuroendocrine Neoplasm Of Appendix
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension ORPHA:100079
Zttk Syndrome
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Lipodystrophy, Familial Partial, Type 7
Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension, Polyuria OMIM:606721
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Prolactinoma
Hypotension ORPHA:2965
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Plague
Hematemesis, Tachycardia, Arrhythmia, 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.

Order Mouse and ES Cells

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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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