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Gene: Nav1 MGI:2183683

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Gene Summary

Name:
neuron navigator 1
Synonyms:
POMFIL3,  C230080M11Rik,  9930003A20Rik,  steerin-1,  unc53H1

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Nav1em1(IMPC)Mbp HOM Early adult 0.00
decreased brain size Nav1em1(IMPC)Mbp HOM Early adult 0.00
prolonged RR interval Nav1em1(IMPC)Mbp HOM Early adult 6.73×10-09
abnormal brain morphology Nav1em1(IMPC)Mbp HOM Early adult 0.00
decreased grip strength Nav1em1(IMPC)Mbp HOM   Early adult 7.27×10-05
increased freezing behavior Nav1em1(IMPC)Mbp HOM Early adult 1.51×10-07
decreased heart rate Nav1em1(IMPC)Mbp HOM Early adult 1.15×10-06
hyperactivity Nav1em1(IMPC)Mbp HOM   Early adult 8.95×10-06
enlarged spleen Nav1em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Nav1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Nav1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Nav1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Nav1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nav1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia OMIM:617182
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Trimethylaminuria
Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Irritability, Bradycardia, Hepatomegaly, Cardiac arrest OMIM:618235
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatic steatosis, Left ventricular hypertrophy, Increased urine succin... OMIM:619048
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Bradycardia OMIM:616276
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Bradycardia OMIM:620265
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Hepatic steatosis, Ir... OMIM:212138
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:52416
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Micropenis, Hypospadias OMIM:618815
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Coproporphyria, Hereditary
Depression, Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegal... OMIM:121300
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Left... OMIM:163800
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Wild Type Attr Amyloidosis
Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Tubulointerstitial f... OMIM:232500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Bradycardia OMIM:616277
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Arrhythmia, Bradycardia, Dysphagia OMIM:609286
Hartnup Disorder
Neutral hyperaminoaciduria, Emotional lability, Attention deficit hyperactivity disorder, Hyperac... OMIM:234500
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly ORPHA:77260
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Glycine Encephalopathy 1
Hyperglycinuria, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Timothy Syndrome
Atrioventricular block, Cardiomegaly, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ascites, Left... OMIM:261740
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Tetanus
Elevated urinary norepinephrine level, Hypertension, Bradycardia, Tachycardia, Elevated urinary e... ORPHA:3299
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Ascites, Bradycardia OMIM:614702
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Babesiosis
Depression, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytop... ORPHA:108
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Pseudo-Torch Syndrome 2
Ascites, Bradycardia, Abnormal renal corticomedullary differentiation, Thrombocytopenia, Cerebral... OMIM:617397
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosi... ORPHA:439232
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Hepatic steatosis, Prolonged QT interval, Bradycardia, Hepatomegaly, Tachycardia, A... OMIM:613327
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype... ORPHA:3077
Phenylketonuria
Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid ... OMIM:261600
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome,... OMIM:105200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh... OMIM:602390
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Sepsis In Premature Infants
Hypotension, Oliguria, Reversible renal failure, Leukocytosis, Splenomegaly, Bradycardia, Anemia,... ORPHA:90051
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Emotional lability, Hematuria, Neutrophilia, Anorexia, Tachycardia, Hepatomegaly, J... ORPHA:99827
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder OMIM:607685
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Glossopharyngeal Neuralgia
Depression, Oral-pharyngeal dysphagia, Syncope, Bradycardia, Jaw claudication ORPHA:221098
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
D-Glyceric Aciduria
Aminoaciduria, Tongue thrusting, Micropenis, Bradycardia OMIM:220120
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Facial telangiectasia, Hydronephrosis, Aggressive behavior, Attention d... OMIM:620141
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... OMIM:619827
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Splenomegaly, Anemia, Cirrhosis, Hepa... OMIM:613313
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Neuroleptic Malignant Syndrome
Hypertensive crisis, Acute kidney injury, Hypotension, Pulmonary embolism, Leukocytosis, Bradycar... ORPHA:94093
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Hypotension, Methylmalonic aciduria, Cystathion... OMIM:277400
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Lymphopenia, Leukopenia, Renal insufficiency, Leukocytosis, Dysphag... ORPHA:319213
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Hypospadias, Bradycardia OMIM:619272
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Bradycardia ORPHA:226313
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Anorexia, H... ORPHA:79312
Necrotizing Enterocolitis
Hypotension, Shock, Ascites, Leukocytosis, Bradycardia, Peritonitis, Thrombocytopenia, Neutropenia ORPHA:391673
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Bradycardia OMIM:608800
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Bradycardia ORPHA:95716
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivit... OMIM:252920
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Tach... ORPHA:90037
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Persistent fetal circulation, Thrombocytopenia, Brad... OMIM:618775
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Abnormality of the... ORPHA:398124
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency 27A
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Lymphadenopathy, Anorexia, Anemia... OMIM:209950
Pediatric-Onset Graves Disease
Polydipsia, Sinus tachycardia, Congestive heart failure, Palpitations, Emotional lability, Spleno... ORPHA:525731
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S... ORPHA:848
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Illum Syndrome
Bradycardia OMIM:208155
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia, Aggressive behavior, Impulsivity OMIM:261990
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Jaundice, Tachycardia, Shock, Abnor... ORPHA:99826
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Legionnaires Disease
Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomega... ORPHA:549
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Attention deficit hyperactivity disorder, Depression, Bradycardia ORPHA:90674
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype... ORPHA:2414
Graves Disease
Abnormal abdomen morphology, Congestive heart failure, Irritability, Polyphagia, Hyperactivity OMIM:275000
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Follic... OMIM:603909
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic a... OMIM:601859
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest ORPHA:99745
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Chro... ORPHA:90033
Mcleod Syndrome
Depression, Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Hepatomegaly, C... OMIM:300842
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly OMIM:616589
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal ... OMIM:252900
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Splenomegaly, Telangiectasia, Cardiomegaly, Ar... OMIM:235200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... OMIM:612840
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Epistaxis, Ascites, Portal hypertension, Splenomegaly,... OMIM:619463
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Proximal Spinal Muscular Atrophy
Dysphagia, Bradycardia ORPHA:70
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... OMIM:263200
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Depression, Ascites, Hepatosplenomegaly, Pancytopenia, Hypers... ORPHA:77259
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal ... OMIM:252930
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Encephalitis Lethargica
Urinary incontinence, Bradycardia ORPHA:83600
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy ORPHA:79292
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Abno... ORPHA:100924
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Lymphadenopathy, Myocarditis,... ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Wilson Disease
Depression, Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Aggressive behavior, Ane... ORPHA:905
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Sheehan Syndrome
Palpitations, Hyposthenuria, Orthostatic hypotension, Bradycardia, Normochromic anemia ORPHA:91355
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Shock, Reduced left ventricular ejection fra... ORPHA:99829
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Bradycardia ORPHA:90673
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile du... OMIM:208540
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Bradycardia, Jaundice, Dysph... OMIM:617248
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation... OMIM:230800
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Depression, Spider hemangioma, Viral hepatitis, Ascites, Splenomegal... ORPHA:2137
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, Ureterocele... ORPHA:79404
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Polyuria, Hyperactivity, Self-biting, Renal potassium ... OMIM:618314
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231214
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morph... ORPHA:464329
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Bradycardia ORPHA:97297
Carney Triad
Gastrointestinal hemorrhage, Ascites, Hypertension, Arrhythmia, Lymphadenopathy, Anorexia, Anemia... ORPHA:139411
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly, Vasculitis in the skin OMIM:620296
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Argininemia
Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Irritability, Hyperactivity... OMIM:207800
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ... OMIM:232300
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonit... ORPHA:131
Familial Mediterranean Fever
Nephropathy, Vasculitis, Nephrocalcinosis, Depression, Ascites, Leukocytosis, Splenomegaly, Prote... ORPHA:342
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Hepatitis, Splenomegaly, Ducta... OMIM:613812
Polycythemia Vera
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
Mirizzi Syndrome
Cholelithiasis, Dark urine, Tachycardia, Pancreatitis, Gallbladder perforation, Anorexia, Abnorma... ORPHA:521219
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypertension, Emotional lability, Nephrolithiasis OMIM:219090
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Bradycardia ORPHA:226307
Tyrosinemia, Type I
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hypertroph... OMIM:276700
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Palpitations, Splenomegaly, Angina pectoris, Arrhythmia, Pancreatitis, Low-output... ORPHA:565612
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hydroneph... OMIM:617913
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Jaun... ORPHA:171
Tuberous Sclerosis Complex
Self-injurious behavior, Chronic kidney disease, Depression, Stage 5 chronic kidney disease, Rena... ORPHA:805
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Dysphagia, Sinus bradycardia OMIM:619482
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia OMIM:614437
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Hypospadias, Aortic valve stenosis, Abnormal fear-induced behavior, Vesi... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Hypospadias, Aortic valve stenosis, Abnormal fear-induced behavior, Vesi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Hypospadias, Aortic valve stenosis, Abnormal fear-induced behavior, Vesi... ORPHA:353277
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Holt-Oram Syndrome
Abdominal situs inversus, Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy,... OMIM:142900

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 Nav1

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 Nav1.

No publications found that use IMPC mice or data for Nav1.

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
Nav1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nav1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Nav1em1(IMPC)Mbp Exon Deletion Mice

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