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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
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... OMIM:620152
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension... OMIM:612925
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612926
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Decreased circulating renin level, Hyponatremia... OMIM:300539
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:620125
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Micros... OMIM:161900
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Abnormal renal tubule morphology, Myocard... ORPHA:188
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia ORPHA:35710
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Increased circulating re... OMIM:610600
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Renal Tubular Dysgenesis
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Neuroleptic Malignant Syndrome
Hypertensive crisis, Acute kidney injury, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hyp... ORPHA:94093
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Late-Onset Familial Hypoaldosteronism
Hypotension, Renal sodium wasting, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased... ORPHA:556037
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, A... ORPHA:99845
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Polyuria, Megacystis OMIM:304800
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ... ORPHA:220393
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Oliguria, Congestive heart failure ORPHA:1054
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Early-Onset Familial Hypoaldosteronism
Hypotension, Renal sodium wasting, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased... ORPHA:556030
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hypotension, Hyperkalemia OMIM:264350
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Oliguria, Cardiomyopathy, Dicarboxylic aciduria, Arrhythmia, Ventricular tachycardia ORPHA:159
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Renal ins... ORPHA:727
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru... ORPHA:84090
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Familial Hypoaldosteronism
Hypotension, Hyponatremia, Hypovolemia, Decreased urinary potassium, Orthostatic hypotension, Pro... ORPHA:427
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:177735
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret... OMIM:620734
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Hereditary Coproporphyria
Nephropathy, Dark urine, Abnormal circulating porphyrin concentration, Increased urinary porphobi... ORPHA:79273
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Colchicine Poisoning
Hypotension, Oliguria, Cardiogenic shock, Congestive heart failure, Renal insufficiency, Arrhythm... ORPHA:31824
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Webb-Dattani Syndrome
Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia OMIM:615926
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Cere... ORPHA:449285
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension ORPHA:526
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... OMIM:252011
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... ORPHA:465
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, De... ORPHA:280679
Lassa Fever
Shock, Oliguria ORPHA:99824
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Left ventricular non... OMIM:617228
Congenital Isolated Acth Deficiency
Hyponatremia, Hypotension ORPHA:199296
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... ORPHA:98878
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Proteinuria, Hypon... OMIM:613845
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Pulmonic stenosis, Hypernatremia OMIM:615508
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Edema, Congestive heart... ORPHA:90308
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Renal insufficiency, Bradycardia, Myocarditis, Subconjunctival hemo... ORPHA:319213
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Aminoaciduria, Proximal tubulopath... ORPHA:411634
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Sepsis In Premature Infants
Hypotension, Oliguria, Reversible renal failure, Bradycardia, Tachycardia ORPHA:90051
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... OMIM:619468
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Decreas... ORPHA:542323
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Postnatal... OMIM:300845
Central Diabetes Insipidus
Hyponatremia, Nocturia ORPHA:178029
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Abnormal bleeding, Chylothorax, Congestive heart failure, ... ORPHA:137667
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:235400
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Decreased urine output, Myocarditis, ... ORPHA:544482
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... OMIM:174000
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Hyponatremia, Arrhythmia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Ascites, Pleural effusion, Petechiae, Bradycardia, Cerebral hemorr... OMIM:617397
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Peau ... OMIM:177850
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Lower limb muscle... ORPHA:90307
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypertension, Polyuria OMIM:613677
Cholera
Hypovolemic shock, Acute kidney injury, Hypotension, Hypocalcemia, Hypokalemia, Hyponatremia, Dec... ORPHA:173
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Increased urinary potassium, Impa... OMIM:607364
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... ORPHA:494424
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... ORPHA:567548
Fetal Gaucher Disease
Neonatal death, Stillbirth, Intracranial hemorrhage, Hydrops fetalis, Arthrogryposis multiplex co... ORPHA:85212
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria OMIM:143880
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage ORPHA:98880
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Infant Botulism
Hyponatremia, Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Polycy... OMIM:618061
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Hypernatremia OMIM:620423
Liddle Syndrome 1
Hypokalemia, Hypertension, Renal insufficiency, Decreased circulating renin level OMIM:177200
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Subdural hemorrhage, Multiple joint contractures, Polyhydramnios, Spina ... OMIM:618291
Exercise-Induced Malignant Hyperthermia
Hypotension, Acute kidney injury, Oliguria, Abnormal pulse pressure, Sinus tachycardia, Abnormal ... ORPHA:466650
Legionnaires Disease
Hypotension, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Hyponatremia, Myocarditis, ... ORPHA:549
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Recurrent urinary tract infections, R... ORPHA:731
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... OMIM:620300
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618126
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria... OMIM:145600
Joubert Syndrome 14
Growth delay, Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hyp... OMIM:614424
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell... ORPHA:99901
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Short stature, Dehydration OMIM:606054
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Hy... ORPHA:100924
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased urinary potassium, Hypertension, Reduced circulating cortisol... OMIM:611489
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... ORPHA:79276
Familial Glucocorticoid Deficiency
Hypotension, Hypernatriuria, Recurrent urinary tract infections, Hypertrophic cardiomyopathy, Hyp... ORPHA:361
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Elevat... OMIM:619351
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Hypocalcemia, Hypokalem... OMIM:617913
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting, Polyuria OMIM:618314
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Polyhydr... OMIM:615368
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Edema, Intracranial hemorrhage, ... ORPHA:324636
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... ORPHA:89938
Acute Adrenal Insufficiency
Hypotension, Renal insufficiency, Hyperuricemia, Hyponatremia, Hypovolemia, Decreased urinary pot... ORPHA:95409
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Renal insufficiency, Hypocalcemia, Hyponatremia, Eleva... ORPHA:247353
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Hemoglobinuria, Hypertension, Myocardial infarction ORPHA:90038
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal telangiectasia OMIM:620157
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphedema ORPHA:3226
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Familial Dysautonomia
Renal insufficiency, Hyponatremia, Glomerulopathy, Orthostatic hypotension, Abnormality of the ki... ORPHA:1764
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyc... OMIM:618183
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Menkes Disease
Short stature, Intrauterine growth retardation, Intracranial hemorrhage OMIM:309400
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Hartsfield Syndrome
Micropenis, Hypospadias, Hypernatremia OMIM:615465
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Dehydration, Cardiomyopathy OMIM:251000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias... ORPHA:90791
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Abnormal lymphatic vesse... ORPHA:464329
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Dilatation of the cerebral artery, Limb muscle weakness, Pleural... OMIM:232300
Necrotizing Enterocolitis
Hyponatremia, Hypotension, Shock, Bradycardia ORPHA:391673
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Intrauterine growth retarda... ORPHA:565
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc... OMIM:620278
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Hyponatremia, Myocarditis, Myocardial infarction, Peric... ORPHA:3452
Type 1 Diabetes Mellitus
Polyuria OMIM:222100
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Renal sodium wasting, Hypertension, Polyuria, Renal salt wasting, Renal ... OMIM:612780
Hypophosphatasia, Infantile
Polyhydramnios, Intracranial hemorrhage, Disproportionate short-limb short stature, Stillbirth OMIM:241500
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Mirage Syndrome
Intrauterine growth retardation, Petechiae, Short stature, Intracranial hemorrhage, Patent ductus... OMIM:617053
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen ovale, Card... OMIM:620371
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Aminoaciduria, Genera... OMIM:219800
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Skeletal muscle atrophy, Lymphedema, Subcutaneous hemorrhage, Myopath... ORPHA:109
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Myopathy, Subarachnoi... OMIM:185070
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth retardation, Oligohydramnios, Neona... OMIM:311900
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Oligohydramnios, Increased nuchal translucency, Fetal intraventricular hemorrhage, Limb hypertoni... OMIM:618480
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intrauterine growth retardation, Intraventricular hemorrhage, Growth d... ORPHA:79284
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Ascites, Transudative pleural effusion ORPHA:284227
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Aspergillosis
Stroke, Intracranial hemorrhage, Pleural effusion ORPHA:1163
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Hypernatremia, Hyp... OMIM:619381
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Short stature, Heart mu... ORPHA:163979
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial... ORPHA:536545
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem... OMIM:201810
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Ascite... ORPHA:99827
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Palpitations, Ventricular tachycar... OMIM:263800
Late-Onset Isolated Acth Deficiency
Hypotension, Hyperuricemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia ORPHA:199299
Alg8-Cdg
Hyponatremia ORPHA:79325
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Hypotension, Abnormal circulating cholesterol concentration, Hypernatriuria... ORPHA:168558
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Perry Syndrome
Hypotension ORPHA:178509
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... OMIM:605714
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Hypotension, Abnormal circulating cholesterol concentration, Hypernatriuria... ORPHA:289548
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Adenohypophysitis
Hyponatremia, Hyposthenuria, Orthostatic hypotension ORPHA:95512
Lysosomal Acid Lipase Deficiency
Hypotension, Hypernatriuria, Abnormal urine potassium concentration, Hyponatremia, Pulmonary arte... ORPHA:275761
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Oligohydramnios, Increased muscle lipid conten... OMIM:608836
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Intra... ORPHA:79282
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... OMIM:300967
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Yellow Fever
Acute kidney injury, Anuria, Shock, Reduced left ventricular ejection fraction, Renal insufficien... ORPHA:99829
Pituitary Apoplexy
Hyponatremia, Hypotension, Hypertension ORPHA:95613
Shigellosis
Hypovolemic shock, Acute kidney injury, Urethritis, Hyponatremia, Myocarditis, Abnormal blood ion... ORPHA:810
Panhypophysitis
Hyponatremia, Hyposthenuria, Orthostatic hypotension ORPHA:95513
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart... ORPHA:3260
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Analbuminemia
Hypotension OMIM:616000
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Addison Disease
Hypotension, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Orthostatic hypotension, R... ORPHA:85138
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Rabin-Pappas Syndrome
Hyponatremia, Retinal telangiectasia OMIM:620155
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... ORPHA:244242
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Abnormal internal carotid artery m... ORPHA:2177
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Nipah Virus Disease
Hypotension ORPHA:99825
Sheehan Syndrome
Palpitations, Hyponatremia, Hyposthenuria, Orthostatic hypotension, Bradycardia ORPHA:91355
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro... ORPHA:90324
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Elevated circulat... OMIM:610505
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphology, Abnormal cerebral artery mo... ORPHA:42775
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Patent urachus OMIM:618252
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Teratoma, Pineal
Polyuria OMIM:273120
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... ORPHA:100080
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcutaneous hemorrh... ORPHA:394
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hypotension ORPHA:293978
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Abnormal onset of bleeding, Arteriovenous m... ORPHA:2929
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Micropenis, Hypospadias ORPHA:79324
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Lower limb muscle weakness, Abnormal vertebral art... ORPHA:247245
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Oculocerebrorenal Syndrome Of Lowe
Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insuf... ORPHA:534
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Short stature, Intrauterine growth retardation, Subdural hemorrhage, Skeletal muscle hypertrophy OMIM:619714
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Long penis, Hypernatriuria, Shock, Hyponatremia, Elevated urinary epinephrine level,... ORPHA:90794
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Rhizomelia, Aortic root aneurysm, Aortic dissection, B... ORPHA:666
Helix Syndrome
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis OMIM:617671
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100082
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Intraventricular hemorrhage, Prolonged prothrombin time, Neonata... OMIM:619055
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Arachnoid Cyst
Subarachnoid hemorrhage, Facial palsy, Encephalocele, Lower limb muscle weakness ORPHA:2356
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Subarachnoid hemorrhage, Growth delay, Cerebral vasculitis OMIM:243700
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Intracranial hemorrhage, Hypertension ORPHA:90795
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hand muscle atrophy, Ven... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hand muscle atrophy, Ven... ORPHA:363958
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypercalciuria, Polyuria, Hyperphosphaturia OMIM:239200
Bronchial Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:97287
Japanese Encephalitis
Hyponatremia ORPHA:79139
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Holoprosencephaly
Abnormality of the urinary system, Hyponatremia, Proteinuria, Arrhythmia, Hypoplasia of penis ORPHA:2162
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Intraventricular hemorrhage OMIM:616430
Chédiak-Higashi Syndrome
Epistaxis, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia, Hypo... ORPHA:167
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Dpagt1-Cdg
Anasarca, Stroke-like episode, Camptodactyly, Prolonged QT interval, Intracranial hemorrhage, Fle... ORPHA:86309
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Nelson Syndrome
Quadriceps muscle atrophy, Intracranial hemorrhage, Hypertension, Lower limb muscle weakness ORPHA:199244
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension ORPHA:35708
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Liver Disease, Severe Congenital
Aminoaciduria, Hypospadias, Abnormal left ventricular function, Increased circulating ferritin co... OMIM:619991
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:100075
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Polyhydramnios, Intraventricular hemorrhage OMIM:613603
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Aa Amyloidosis
Hypotension ORPHA:85445
Trichorhinophalangeal Syndrome, Type Ii
Mild postnatal growth retardation, Right ventricular hypertrophy, Bicuspid aortic valve, Cerebral... OMIM:150230
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polyuria, Nephrolithiasis OMIM:617994
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Polyhydramnios, Congenital diaphragmatic hern... OMIM:613406
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Meningioma
Upper limb muscle weakness, Lower limb muscle weakness, Syncope, Cerebral hemorrhage, Facial palsy ORPHA:2495
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia, Short stature ORPHA:420741
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Acute Transverse Myelitis
Upper limb muscle weakness, Distal lower limb muscle weakness, Subarachnoid hemorrhage, Orthostat... ORPHA:139417
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Congenital Enterovirus Infection
Myocarditis, Hypotension, Cardiomyopathy ORPHA:292
Acute Radiation Syndrome
Telangiectasia, Hypotension ORPHA:454831
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Hyperte... OMIM:201750
Vascular Ehlers-Danlos Syndrome
Mitral valve prolapse, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric... ORPHA:286
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Dehydration,... ORPHA:99826
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Enuresis ORPHA:293987
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Facial paralysis, Retinal arteriolar tortuosity, Ischemic strok... OMIM:175780
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Dilated cardiomyopathy ORPHA:20
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Aortic aneurysm, Internal hemorrhage, Hypert... ORPHA:805
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Alexander Disease
Hypertension, Hypotension, Sudden cardiac death ORPHA:58
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, ... ORPHA:79318
Neuroendocrine Neoplasm Of Appendix
Hypotension, Tricuspid stenosis, Palpitations, Heart murmur ORPHA:100079
Shwachman-Diamond Syndrome 1
Short stature, Myocardial necrosis OMIM:260400
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Hypertension, Polyuria, Orthostatic hypotension OMIM:606721
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy, Cerebral edema ORPHA:68
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Aortic regurgitation, Polyuria OMIM:617140
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr... ORPHA:91347
Prolactinoma
Hypotension ORPHA:2965
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia ORPHA:289176
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... ORPHA:358
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... ORPHA:509
Plague
Hypotension, Tachycardia, Arrhythmia, Hematemesis ORPHA:707
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
OMIM:201300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wnk1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wnk1.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wnk1tm82551(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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