Gene Summary

thymosin, beta 4, X chromosome
Tb4,  Ptmb4,  Tbeta4

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
enlarged spleen Tmsb4xem1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Tmsb4xem1(IMPC)Mbp HEM Early adult 0.00
increased monocyte cell number Tmsb4xem1(IMPC)Mbp HEM Early adult 0.00
abnormal skin morphology Tmsb4xem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Tmsb4xem1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Tmsb4xem1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Tmsb4xem1(IMPC)Mbp HEM Early adult 0.00
decreased anxiety-related response Tmsb4xem1(IMPC)Mbp HOM Early adult 0.00

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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 Tmsb4x 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 Tmsb4x by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Hepatomegaly, Splenomegaly, Ataxia ORPHA:2274
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu... OMIM:618734
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Factor Vii Deficiency
Prolonged bleeding after dental extraction, Bruising susceptibility, Intramuscular hematoma, Intr... OMIM:227500
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial... OMIM:619897
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Prolonged bleeding after dental extraction, Intramuscular hematoma, P... ORPHA:325
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Hemophilia A
Joint swelling, Intramuscular hematoma, Intracranial hemorrhage, Joint hemorrhage, Intraventricul... ORPHA:98878
Cerebral Cavernous Malformations 2
Telangiectasia, Stroke, Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603284
Familial Cervical Artery Dissection
Subarachnoid hemorrhage, Stroke, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Hyp... ORPHA:36382
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Congenital Factor V Deficiency
Gingival bleeding, Prolonged bleeding after dental extraction, Hematochezia, Bruising susceptibil... ORPHA:326
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Intramuscular hematoma, Intracranial hemorrhage, J... OMIM:227600
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Bruising susceptibility, Intramuscular hematoma, Persistent bleeding after tra... ORPHA:79
Moderate Hemophilia A
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Intramuscular... ORPHA:169805
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... OMIM:613225
Congenital Factor Xiii Deficiency
Gingival bleeding, Prolonged bleeding after dental extraction, Intramuscular hematoma, Bruising s... ORPHA:331
Severe Hemophilia A
Epidural hemorrhage, Intramuscular hematoma, Subdural hemorrhage, Bruising susceptibility, Persis... ORPHA:169802
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after ... ORPHA:328
Hemophilia B
Prolonged bleeding after dental extraction, Intramuscular hematoma, Intracranial hemorrhage, Join... ORPHA:98879
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia OMIM:616871
Afibrinogenemia, Congenital
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Bruising susc... OMIM:202400
Reversible Cerebral Vasoconstriction Syndrome
Subarachnoid hemorrhage, Cerebral hemorrhage, Subdural hemorrhage, Ischemic stroke, Vasospasm, Ce... ORPHA:284388
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Immune Thrombocytopenia
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Gastrointestinal hemorr... ORPHA:3002
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after dental extraction, Epidural hemorrhage, Intramuscular hematoma, Persiste... ORPHA:465
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... ORPHA:327
Glanzmann Thrombasthenia 1
Gingival bleeding, Bruising susceptibility, Subdural hemorrhage, Intracranial hemorrhage, Excessi... OMIM:273800
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... ORPHA:231160
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Familial Afibrinogenemia
Gingival bleeding, Joint swelling, Cerebral hemorrhage, Abnormal bleeding, Epistaxis ORPHA:98880
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Snakebite Envenomation
Rhabdomyolysis, Stroke, Gingival bleeding, Hypotension, Edema, Angioedema, Cardiogenic shock, Int... ORPHA:449285
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Fetal And Neonatal Alloimmune Thrombocytopenia
Subarachnoid hemorrhage, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Purpura, Spontaneo... ORPHA:853
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after dental extraction, Bruisi... ORPHA:35909
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Neutropenia, Depression, Splenomegaly, Anemia OMIM:602079
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Sneddon Syndrome
Stroke, Cerebral hemorrhage, Ischemic stroke, Hypertension, Facial palsy, Bicuspid aortic valve OMIM:182410
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Cerebral Amyloid Angiopathy, App-Related
Subarachnoid hemorrhage, Stroke, Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cereb... OMIM:605714
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage OMIM:300049
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Hypotension, Bruising suscep... ORPHA:99147
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Ischemic stroke, Intracranial hemorrhage, Hypertension, Transient is... ORPHA:136
Fibronectin Glomerulopathy
Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Glut1 Deficiency Syndrome 2
Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis, Irritability, Splenomegaly OMIM:612126
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... ORPHA:486
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... ORPHA:494424
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension, Moyamoya phenomenon, Coronary artery atherosc... ORPHA:280679
Acquired Purpura Fulminans
Prolonged prothrombin time, Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage ORPHA:49566
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... ORPHA:53719
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Hydrops fetalis, Intracranial hemorrhage, Neonatal death, Sti... ORPHA:85212
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Irritability, Thrombocytopenia, Splenomegaly OMIM:615010
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Primary Angiitis Of The Central Nervous System
Stroke, Cerebral vasculitis, Intracranial hemorrhage, Transient ischemic attack ORPHA:140989
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Polyhydramnios, Congenital contracture, Centrally nucleated skeletal muscle ... OMIM:615368
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Intracranial ... ORPHA:464321
Methanol Poisoning
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Permanent ... ORPHA:31825
Familial Multiple Nevi Flammei
Venous insufficiency, Edema, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pul... ORPHA:624
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope, Ischemic stro... ORPHA:90065
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Dengue Fever
Gingival bleeding, Bruising susceptibility, Hypotension, Cerebral hemorrhage, Gastrointestinal he... ORPHA:99828
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Bruising susceptibility, Cerebral hemorrhage, Joint hemorrhage, Ecchy... OMIM:277450
Dural Sinus Malformation
Subarachnoid hemorrhage, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Cerebellar hemorrhage,... ORPHA:97339
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Neutrophilia, Monocytosis OMIM:619644
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Gait disturbance, Unsteady gait, Ataxia, Abnormality of neutrophi... ORPHA:2585
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT inte... ORPHA:251274
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Musc... OMIM:115197
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Hydrops feta... ORPHA:90308
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Mucoid extracellular matrix accumulation, Transient ischemic attack, Descending thoracic ... ORPHA:91387
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Coproporphyria, Hereditary
Jaundice, Anxiety, Hepatomegaly, Depression, Splenomegaly OMIM:121300
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Pseudoxanthoma Elasticum, Forme Fruste
Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc... OMIM:177850
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Erythrocytosis, Familial, 2
Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Varicose veins OMIM:263400
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Gingival bleeding, Abnormal umbilical stump bleeding, Bruising suscep... ORPHA:335
Hereditary Hemorrhagic Telangiectasia
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Pulmonary arterial hypertension, Abnor... ORPHA:774
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites ORPHA:284227
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Familial Hyperaldosteronism Type I
Epistaxis, Hypertension, Intracranial hemorrhage ORPHA:403
Gaucher Disease, Type Iii
Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Depression, Splenomegaly OMIM:231000
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycar... OMIM:617397
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Right aortic arch, Abnormal left ventricle morphology, Cerebral hemorrhage, Hypertension, Prematu... OMIM:300845
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Telangiectasia, Hereditary Hemorrhagic, Type 4
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Conjunctival t... OMIM:610655
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Familial Hyperaldosteronism Type Ii
Epistaxis, Hypertension, Intracranial hemorrhage ORPHA:404
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
Autoerythrocyte Sensitization Syndrome
Intramuscular hematoma, Bruising susceptibility, Edema, Intracranial hemorrhage, Joint hemorrhage... ORPHA:324636
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Myopathy, EMG: myopathic abnormalities, Cerebral edema, Sudden cardia... ORPHA:99901
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:614480
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... OMIM:171420
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly, Ataxia ORPHA:98293
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... ORPHA:369929
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Gait ataxia, Splenomegaly OMIM:616719
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Muscular dystrophy, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden ... ORPHA:300751
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Non-Functioning Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:94080
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Lymphedema, Bruising susceptibility ORPHA:3226
Sick Sinus Syndrome 2
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Stormorken Syndrome
Subarachnoid hemorrhage, Bruising susceptibility, Myopathy, Abnormal bleeding, Epistaxis, Stroke-... OMIM:185070
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Subdural hemorrhage, Polyhydramnios, Skeletal muscle atrophy,... OMIM:618291
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:231625
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Long Qt Syndrome 15
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... OMIM:226990
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Propionic Acidemia
Cardiomyopathy, Dehydration, Cerebellar hemorrhage, Limb hypertonia OMIM:606054
Glycogen Storage Disease Ii
Macroglossia, Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinu... OMIM:232300
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly OMIM:620010
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa telangiect... OMIM:187300
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Joubert Syndrome 33
Splenomegaly, Ataxia OMIM:617767
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecchymosis, S... ORPHA:464329
Hemochromatosis, Type 2A
Lethargy, Hepatomegaly, Splenomegaly, Cirrhosis OMIM:602390
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:79301
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites ORPHA:100025
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Ataxia, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bacterici... OMIM:613470
Menkes Disease
Intracranial hemorrhage OMIM:309400
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Hypophosphatasia, Infantile
Stillbirth, Polyhydramnios, Intracranial hemorrhage OMIM:241500
Parkes Weber Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... ORPHA:90307
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Telangiectasia, Hereditary Hemorrhagic, Type 2
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... OMIM:600376
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Dehydration, Cerebellar hemorrhage OMIM:251000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... OMIM:612541
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Tricuspid ... ORPHA:2414
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... ORPHA:1041
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Fetal intraventricular hemorrhage, Oligohydramnios, Limb hypertonia OMIM:618480
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Wilson Disease
Acute hepatitis, Jaundice, Difficulty walking, Anemia, Hepatomegaly, Cirrhosis, Hypersexuality, H... ORPHA:905
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Irritability, Hepatitis, Thrombocyt... ORPHA:848
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Choreoathetosis, Pancreatitis, Hepatomegaly, Thrombocytopenia, Lethargy, Splenomegaly, Ne... ORPHA:79312
Niemann-Pick Disease, Type A
Inability to walk, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue hi... OMIM:257200
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Stroke, Intracranial hemorrhage, Pleural effusion ORPHA:1163
Neurocutaneous Melanocytosis
Intracranial hemorrhage ORPHA:2481
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Cocaine Intoxication
Rhabdomyolysis, Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypo... ORPHA:90068
Cerebral hemorrhage, Renal artery stenosis, Congestive heart failure, Positive regitine blocking ... OMIM:171300
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Congenital Disorder Of Glycosylation, Type Iij
Ataxia, Hepatomegaly, Irritability, Cirrhosis, Splenomegaly OMIM:613489
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... ORPHA:363618
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:214900
Wiskott-Aldrich Syndrome
Vasculitis, Gingival bleeding, Recurrent intrapulmonary hemorrhage, Hematochezia, Bruising suscep... ORPHA:906
Hellp Syndrome
Prolonged prothrombin time, Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhag... ORPHA:244242
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial h... ORPHA:99827
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Craniofaciofrontodigital Syndrome
Stroke, Atrial septal defect, Ventricular septal defect, Persistent fetal circulation, Pulmonary ... ORPHA:363705
Bannayan-Riley-Ruvalcaba Syndrome
Myopathy, Aortic aneurysm, Arteriovenous malformation, Skeletal muscle atrophy, Intracranial hemo... ORPHA:109
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Hemorrhagic Fever-Renal Syndrome
Hypotension, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak, Internal hemorr... ORPHA:340
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion... OMIM:614702
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Hypote... OMIM:261740
Classic Hodgkin Lymphoma
Ataxia, Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:391
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:276621
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Splenomegaly, Cirrhosis ORPHA:75234
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage, Atrial septal defect, Neonatal death, Oligohydramnios OMIM:311900
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... OMIM:619375
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Mirage Syndrome
Intracranial hemorrhage, Petechiae, Patent ductus arteriosus OMIM:617053
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... OMIM:615122
Classic Homocystinuria
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Gastrointe... ORPHA:394
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... OMIM:619463
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Ataxia, Hepatomegaly, Irritability, Lethargy, Splenomegaly OMIM:201100
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, Abn... OMIM:150550
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Griscelli Syndrome
Jaundice, Leukopenia, Ataxia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomega... ORPHA:381
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... OMIM:615234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Knee flexion contracture, Dilated cardiomyopathy,... OMIM:608836
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... OMIM:617300
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Rig... ORPHA:555874
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Menkes Disease
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrha... ORPHA:565
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Joint swelling, Angioedema, Skeletal muscle atrophy, Intracranial hemorrhage,... ORPHA:3260
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Superficial Siderosis
Subarachnoid hemorrhage, Arteriovenous malformation, Lower limb muscle weakness, Persistent bleed... ORPHA:247245
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:29072
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia ORPHA:163596
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Interrupted aortic arch... ORPHA:163979
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... OMIM:601847
Nelson Syndrome
Quadriceps muscle atrophy, Lower limb muscle weakness, Intracranial hemorrhage, Hypertension ORPHA:199244
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Abnormal heart morphology ORPHA:79284
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Intraventricular hemorrhage OMIM:616507
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Antenatal intracerebral hemorrhage, Bruising susceptibility, Myopathy, Aortic aneur... ORPHA:536545
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pedal edema, Elevated pulmonary artery pressure, Pulmonary edema, Pe... ORPHA:199241
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy, Subdural hemorrhage OMIM:619714
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Homozygous Familial Hypercholesterolemia
Aortic atherosclerotic lesion, Abnormal internal carotid artery morphology, Premature coronary ar... ORPHA:391665
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... OMIM:278000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage, Neonatal death OMIM:619055
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stroke, Pulmonary arterial hypertension, Dehydration, Subdural hemorrhage, Hydrops fetalis, Pulmo... ORPHA:79282
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff... OMIM:612714
Mcleod Syndrome
Anxiety, Hepatomegaly, Acanthocytosis, Depression, Personality disorder, Splenomegaly OMIM:300842
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ... ORPHA:2137
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Hutchinson-Gilford Progeria Syndrome
Stroke, Mitral stenosis, Abnormal mitral valve morphology, Intracranial hemorrhage, Ventricular h... ORPHA:740
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... OMIM:211600
Cockayne Syndrome Type 3
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Skelet... ORPHA:90324
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Irritab... OMIM:603553
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... ORPHA:100026
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Increased hepatic glycogen content OMIM:613027
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis OMIM:235555
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Lymphadeni... OMIM:618935
Myeloproliferative disorder, Splenomegaly OMIM:254450
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli... OMIM:603903
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosis, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Niemann-Pick Disease, Type C1
Ataxia, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis... OMIM:257220
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... ORPHA:231222
Antenatal intracerebral hemorrhage, Abnormal cerebral artery morphology, Dilatation of the ventri... ORPHA:2177
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... OMIM:613812
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... ORPHA:822
Cerebellar hemorrhage ORPHA:616
Arachnoid Cyst
Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage ORPHA:2356
Loeys-Dietz Syndrome 3
Atrial septal defect, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, M... OMIM:613795
Budd-Chiari Syndrome
Peritonitis, Jaundice, Hepatomegaly, Cirrhosis, Portal hypertension, Cholecystitis, Splenomegaly,... ORPHA:131
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Camptodactyly, Anasarca, Intracranial hemorrhage, Flexion contracture, Prolonged QT interval, Str... ORPHA:86309
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Polyhydramnios, Intraventricular hemorrhage OMIM:613603
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly OMIM:619183
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... ORPHA:86843
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Acute Liver Failure
Prolonged prothrombin time, Hypotension, Bruising susceptibility, Intracranial hemorrhage, Cerebr... ORPHA:90062
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Asplenia, Enlarged kidney, Cholestasis, Bile duct proliferation, Hepatic fibro... OMIM:208540
Hereditary Elliptocytosis
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... ORPHA:288
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Gait disturbance, Polycythemia, Difficulty walking, Abnormality of the liver, Hepatomeg... ORPHA:309854
Viss Syndrome
Ventricular septal defect, Atrial septal defect, Left aortic arch with retroesophageal right subc... OMIM:619472
Caroli Disease
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Hepati... ORPHA:53035
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect OMIM:616682
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Cerebral hemorrhage, Lower limb muscle weakness, Syncope, Upper limb muscle weakness, Facial palsy ORPHA:2495
Acute Transverse Myelitis
Subarachnoid hemorrhage, Distal lower limb muscle weakness, Hypertension, Upper limb muscle weakn... ORPHA:139417
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia ORPHA:420741
Koolen-De Vries Syndrome Due To A Point Mutation
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Aortic aneurysm, Cardiomyopat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Aortic aneurysm, Cardiomyopat... ORPHA:363958
Osteogenesis Imperfecta
Aortic root aneurysm, Bruising susceptibility, Aortic aneurysm, Cerebral hemorrhage, Arterial dis... ORPHA:666
Heart Block, Congenital
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... OMIM:234700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Ischemic stroke, Retinal arteriolar tortuosity, Dilation of Virchow-Robin sp... OMIM:175780
Cardiac-Urogenital Syndrome
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Tachycardia, Atrial... OMIM:618280
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Dehydration, Hypotension, Bruising susceptibility, Internal hemorrhag... ORPHA:99826
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:233710
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Portal hypertension, Hepatic steatosis, Bili... ORPHA:567983
Generalized Arterial Calcification Of Infancy
Stroke, Ventricular hypertrophy, Transient ischemic attack, Pulmonary arterial hypertension, Coro... ORPHA:51608
Hepatocellular Carcinoma
Venous insufficiency, Hypotension, Anasarca, Pedal edema, Portal hypertension, Internal hemorrhag... ORPHA:88673
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato... ORPHA:2442
Yellow Fever
Prolonged prothrombin time, Reduced left ventricular ejection fraction, Internal hemorrhage, Capi... ORPHA:99829
Hyperlipoproteinemia, Type Id
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly OMIM:615947
Witteveen-Kolk Syndrome
Polyhydramnios, Contracture of the distal interphalangeal joint of the 4th finger, Intracranial h... OMIM:613406
Chronic Visceral Acid Sphingomyelinase Deficiency
Neoplasm of the liver, Ataxia, Autoimmune thrombocytopenia, Bipolar affective disorder, Hepatomeg... ORPHA:77293
Tuberous Sclerosis Complex
Aortic aneurysm, Cardiac rhabdomyoma, Hypertension, Pulmonary lymphangiomyomatosis, Internal hemo... ORPHA:805
Anasarca, Intracranial hemorrhage, Angina pectoris, Pericardial effusion, Lymphedema, Hypertrophi... ORPHA:79318
Vascular Ehlers-Danlos Syndrome
Transient ischemic attack, Abnormal bleeding, Mitral valve prolapse, Aplasia/Hypoplasia of the ab... ORPHA:286


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 Tmsb4x

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 Tmsb4x.

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

Title Journal IMPC Allele PubMed ID
Thymosin β4 is essential for thrombus formation by controlling the G-actin/F-actin equilibrium in platelets. Haematologica (December 2022) Tmsb4xtm2a(EUCOMM)Wtsi 34348450

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MGI Allele Allele Type Produced
Tmsb4xtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tmsb4xtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tmsb4xem1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Tmsb4xtm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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