Gene Summary

butyrophilin-like 4
Btn3a3,  EG632126,  NG11

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
prolonged QT interval Btnl4em1(IMPC)Tcp HOM Early adult 2.02×10-05
prolonged RR interval Btnl4em1(IMPC)Tcp HOM Early adult 9.88×10-06
abnormal skin morphology Btnl4em1(IMPC)Tcp HOM Early adult 0.00
prolonged ST segment Btnl4em1(IMPC)Tcp HOM Early adult 2.29×10-05
enlarged lymph nodes Btnl4em1(IMPC)Tcp HOM Early adult 0.00
enlarged spleen Btnl4em1(IMPC)Tcp 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.

Eye Morphology

Images Ophthalmoscopy

90 Images

Gross Pathology and Tissue Collection


7 Images

Eye Morphology

Images Slit Lamp

3 Images



1 Images

Human diseases caused by Btnl4 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 Btnl4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Increased left ventricular end-diastolic volu... OMIM:601494
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Syncope, Atrial fibrillat... OMIM:163800
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... ORPHA:90647
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Nathalie Syndrome
Abnormal EKG OMIM:255990
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Aplastic anemia, Arrhythmia, Hem... ORPHA:398124
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Dilated cardiomyopathy, Noncompaction car... OMIM:610198
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Cirrhotic Cardiomyopathy
Fourth heart sound, Hepatomegaly, Cirrhosis, Left ventricular hypertrophy, Left ventricular diast... ORPHA:57777
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, ST segment depression, Left ventricular hypertrophy, Cerebral ... ORPHA:90065
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia OMIM:601005
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, T-w... OMIM:608751
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... ORPHA:251274
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventr... ORPHA:85451
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia OMIM:607685
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Tachycardia, Atrial fibrillation, Hepatic steatosis, Prolonged QT int... OMIM:613327
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia,... ORPHA:26793
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Tachycardia, Hypertension, Jaundice OMIM:121300
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:602390
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Splenomegaly ORPHA:796
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Fish-Eye Disease
Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Prolonged QTc interval, Pericarditis ORPHA:231111
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Gaucher Disease Type 2
Cardiac arrest, Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia, Cardiomyopathy, Congestive heart... OMIM:613313
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Scorpion Envenomation
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... ORPHA:466677
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Dilated cardiomyopathy, Normochr... ORPHA:66634
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure, Splenomegaly ORPHA:90037
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Gastrointestinal hemorrhage, Ne... ORPHA:79301
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prolonged QTc interval, Syncope, Bidirectional ventricular ectopy, Prominent U wave... OMIM:170390
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Hepatic steatosis, Congestive heart failure, Bradycardia OMIM:619048
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Amyloidosis, Familial Visceral
Hypertension, Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Atrioventricular block, Hepatomegaly, Abnormal P wave, Right ventr... ORPHA:1329
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Wild Type Attr Amyloidosis
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... ORPHA:330001
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Prolong... ORPHA:71212
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Arrhythmia, Hemolytic anemia, Congestive heart failure ORPHA:98375
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Ethylene Glycol Poisoning
Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges... ORPHA:31826
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertrophy, Eosinophilia, Pa... ORPHA:75566
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Sinus tachycardia, Left ventricular hypertrophy, Right... ORPHA:563
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Prolonged QTc interval, Ventricular tachycardia, Ventricular fibrillation, Hy... OMIM:616878
Gitelman Syndrome
Neoplasm of the pancreas, Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitation... ORPHA:358
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy ORPHA:37748
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Ventricular tachycardia, Hepatic st... OMIM:212138
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Sinus tachycardia, ... ORPHA:466650
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypert... ORPHA:2414
Gitelman Syndrome
Palpitations, Prolonged QT interval, Ventricular tachycardia, Hypotension OMIM:263800
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Cardiomega... OMIM:261740
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia ORPHA:542306
Thyrotoxic Periodic Paralysis
Palpitations, Shortened PR interval, Second degree atrioventricular block, Ventricular fibrillati... ORPHA:79102
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... ORPHA:3093
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Lymphadenopathy, Cardiomyopathy, Congestive ... ORPHA:3386
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Hepatomegaly, Splenomegaly, Epistaxis, Arrhythmia, Gastrointestinal hemorrhage, Cardiac arrest ORPHA:99745
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Neutropenia OMIM:617248
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice, Con... ORPHA:90033
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Myocardial infarction, Thrombocytopenia... ORPHA:108
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:93476
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Telangiectasia, Asci... OMIM:235200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran... OMIM:255160
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hep... ORPHA:848
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hepatomegaly, Hepatoblastoma, Splenomegaly, Pancreatic islet-cell hyperplasi... ORPHA:373
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Abnormality of the spleen, Pancreatic hypoplasia, T-wave inversion, Abnormal EKG, Abnormality of ... ORPHA:1666
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Idiopathic Congenital Hypothyroidism
Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, T... ORPHA:3226
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Cerebral vasculi... OMIM:613179
Muscular Dystrophy, Duchenne Type
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure OMIM:310200
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Hepatomegaly, Left ventricular outflow tract obstruction, Right ventricular hypert... ORPHA:860
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Essential Thrombocythemia
Splenomegaly, Myocardial infarction, Abnormal platelet morphology, Transient ischemic attack, Acu... ORPHA:3318
Gaucher Disease, Type I
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... OMIM:230800
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Immunodeficiency 32B
Splenomegaly OMIM:226990
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:79312
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Abnormal EKG, Telangiectasia, Ascites ORPHA:93400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... OMIM:617394
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Prolonged QT interval ORPHA:529962
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Jaundice, Intrahepatic cholesta... OMIM:211600
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... ORPHA:276
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... ORPHA:829
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Adams-Oliver Syndrome 6
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly OMIM:616589
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Illum Syndrome
Bradycardia OMIM:208155
Al Amyloidosis
Hepatomegaly, Abnormal P wave, Jaw claudication, Arrhythmia, Abnormal EKG, Postural hypotension w... ORPHA:85443
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval ORPHA:79443
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Left ventricular outflow tract obstruction, Hypertro... ORPHA:439232
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Reduced left ventricular ejection fraction, Abnormal EKG, Right bu... ORPHA:268
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Arrhythmia, Myocarditis, Hypotension, Hepatitis, Bone ma... ORPHA:549
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Subarachnoid he... OMIM:232300
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Myocardial infarction, Splenomegaly OMIM:205400
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... OMIM:602347
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Splenomegaly, Epi... ORPHA:729
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Gastroint... ORPHA:131
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Vasculitis, Gastrointes... ORPHA:91138
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Pancytopenia, Thr... ORPHA:85212
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Prolonged QT interval, Anemia, Hepatomegaly, Intracranial hemorrhage ORPHA:86309
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:231625
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Primary Lipodystrophy
Angina pectoris, Pancreatitis, Splenomegaly, Cirrhosis, Hypertension, Hepatic steatosis, Cardiomy... ORPHA:90970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope OMIM:616812
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Arrhythmia, Hypotension, Mastocytosis, Ch... ORPHA:98292
Necrotizing Enterocolitis
Leukocytosis, Peritonitis, Hypotension, Shock, Neutropenia, Thrombocytopenia, Ascites, Bradycardia ORPHA:391673
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Vasculitis, Thrombocytopenia, Lymphadenopathy OMIM:617718
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... OMIM:278000
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Hyperte... OMIM:603903
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Scrub Typhus
Hypotension, Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Acanthocytosis, Dilated cardiomyopathy, Atrial fibrillation, Cardiomy... OMIM:300842
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612387
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval ORPHA:1772
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Thrombocytopenia, Ascites, Bradycardia OMIM:617397
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... OMIM:263200
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Bradycardia, Hypertrophic cardiomyopathy, Normochromic anemia, ... OMIM:618775
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Splenomegaly, Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Epistaxis OMIM:153670
Sepsis In Premature Infants
Hepatomegaly, Leukocytosis, Splenomegaly, Tachycardia, Hypotension, Neutropenia, Anemia, Thromboc... ORPHA:90051
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, ... ORPHA:465508
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Cerebral ischemia, Syncope, Thrombocytosis, Transient... ORPHA:71493
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... OMIM:618935
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Hematochezia, Dilated cardi... OMIM:615895
Felty Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Pericarditis, Neutr... ORPHA:47612
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... OMIM:251880
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231214
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Hepatomegaly, Neutrophilia, Subdural hemorrhage, Hemothorax, Myocarditis,... ORPHA:99827
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG, Anemia ORPHA:230
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Myocardial infarction, Prolonged QT interval, Hepatic fibro... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Myocardial infarction, Prolonged QT interval, Hepatic fibro... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Myocardial infarction, Prolonged QT interval, Hepatic fibro... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Myocardial infarction, Prolonged QT interval, Hepatic fibro... ORPHA:99226
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools OMIM:613812
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Familial Thyroid Dyshormonogenesis
Bradycardia, Prolonged neonatal jaundice ORPHA:95716
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Epistaxis, Splenomegaly OMIM:139090
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Pancreatitis, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Palpitations, ... ORPHA:565612
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Wolman Disease
Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Epidural hemorrhage, ... ORPHA:464329
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly ORPHA:93474
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic... OMIM:208540
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Myeloproliferative disorder, ... ORPHA:70591
Absence Of The Pulmonary Artery
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr... ORPHA:980
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myocarditis, Hemolytic anemi... ORPHA:809
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation OMIM:613027
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Pulmonary arterial hypertension, ... OMIM:616028
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormality of neu... ORPHA:33226
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Pancreatitis, Shortened QT interval ORPHA:99880
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Pancreatitis, Shortened QT interval ORPHA:143
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thrombocytopenia, Biliary tract obstruction, P... ORPHA:77259
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, ... OMIM:607765
Myeloproliferative disorder, Splenomegaly OMIM:254450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Gaucher Disease, Type Iiic
Mitral stenosis, Hepatomegaly, Splenomegaly, Pancytopenia, Cardiomegaly OMIM:231005
Glossopharyngeal Neuralgia
Jaw claudication, Bradycardia, Syncope ORPHA:221098
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Q Fever
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Myocarditis, ... ORPHA:781
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... OMIM:615512
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Myocarditis, Incr... ORPHA:2442
Reynolds Syndrome
Hepatomegaly, Raynaud phenomenon, Splenomegaly, Palmar telangiectasia, Lip telangiectasia, Gastro... OMIM:613471
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Raynaud phenomenon, Hepatosplenomegaly, Le... OMIM:615688
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad... ORPHA:3260
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Vasculitis, Hemolytic anemia, Lymphadenop... ORPHA:1572
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Familial Mediterranean Fever
Pancreatitis, Splenomegaly, Peritonitis, Arrhythmia, Vasculitis, Myocardial infarction, Pericardi... ORPHA:342
D-Glyceric Aciduria
Bradycardia OMIM:220120
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Thymoma, Melena, Hematemesis, Insulinoma, Hypertension, Shortened QT in... ORPHA:652
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil... ORPHA:567983
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Concentric hypertrophic card... OMIM:229310
Lujo Hemorrhagic Fever
Lymphopenia, Leukocytosis, Leukopenia, Fulminant hepatitis, Myocarditis, Hypotension, Shock, Subc... ORPHA:319213
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cirrhosis... OMIM:300972
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic ane... OMIM:616084
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233710
Neuroleptic Malignant Syndrome
Leukocytosis, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Thrombocytosis, Hypertens... ORPHA:94093
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Myocarditis, Third degree atrioventri... ORPHA:3385
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy OMIM:601992
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T lymphocytopenia, Neutropeni... OMIM:300755
Marburg Hemorrhagic Fever
Pancreatitis, Lymphopenia, Hypovolemia, Leukopenia, Tachycardia, Abnormal lymphocyte morphology, ... ORPHA:99826
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233690
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Prolonged neonatal jaundice ORPHA:90673
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Vasculitis in the skin, Splenomegaly, Cervical lymphadenopathy, Abno... ORPHA:50918
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hypertension, Tachycardia, Retinal hemorrhage, Bradycardia OMIM:614653
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Enlarged... OMIM:232220
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
Encephalitis Lethargica
Bradycardia ORPHA:83600
Yellow Fever
Supraventricular arrhythmia, Neutrophilia, Leukocytosis, Hematemesis, Pancreatic hyperplasia, Acu... ORPHA:99829
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hypertension, Hepatospleno... ORPHA:731
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Normochromic anemia, Bradycardia ORPHA:91355
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy OMIM:302900
Tyrosinemia, Type I
Melena, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Cirrhosis, Hepatocellular carcin... OMIM:276700
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Prolonged neonatal jaundice ORPHA:90674
Hyperlipoproteinemia, Type Id
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly OMIM:615947
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly, Bradycardia ORPHA:97297
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Prolonged neonatal jaundice ORPHA:226307
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464


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 Btnl4

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 Btnl4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Epithelia Use Butyrophilin-like Molecules to Shape Organ-Specific γδ T Cell Compartments. Cell (September 2016) Btnl4tm1(KOMP)Mbp PMC5037318

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MGI Allele Allele Type Produced
Btnl4em1(IMPC)Tcp Inter-exon deletion Mice
Btnl4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells