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Gene: Tfpi MGI:1095418

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tissue factor pathway inhibitor
Synonyms:
A630013F22Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tfpi 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 Tfpi by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... ORPHA:90064
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Familial Cervical Artery Dissection
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:36382
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells, Death in childhood OMIM:256150
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Polyhydramnios, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:363705
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capilla... ORPHA:1041
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... ORPHA:849
Acquired Purpura Fulminans
Shock, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Intracranial ... ORPHA:49566
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... ORPHA:449285
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... ORPHA:465
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... ORPHA:2414
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... ORPHA:49827
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Pallor, Bruising susceptibility ORPHA:3226
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Menkes Disease
Decreased circulating ceruloplasmin concentration, Short stature, Cutis laxa, Intracranial hemorr... OMIM:309400
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arterioveno... ORPHA:624
Fetal Gaucher Disease
Death in infancy, Hydrops fetalis, Intracranial hemorrhage, Stillbirth, Neonatal death ORPHA:85212
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Fibronectin Glomerulopathy
Hypertension, Hypoalbuminemia, Cerebral hemorrhage, Pedal edema ORPHA:84090
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischem... OMIM:182410
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevate... OMIM:620300
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... ORPHA:99828
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... ORPHA:280679
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy, Increased C-peptide level ORPHA:276556
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopathy, Cerebellar hemorrh... ORPHA:97339
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... OMIM:614201
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy, Increased C-peptide level ORPHA:276575
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG... ORPHA:284227
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy, Increased C-peptide level ORPHA:276580
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... OMIM:618775
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Edema, Pericardial effusion, Decreased circulating IgA level, De... ORPHA:90362
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Elevated circulating creatine kinase concentration, Intraventricular hemorrhage... OMIM:619055
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Congenital Enterovirus Infection
Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops feta... ORPHA:292
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricu... OMIM:620070
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Dry skin, Hypertension, Hypoalbum... OMIM:619487
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-li... OMIM:212065
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Edema, Intracranial hemorrhag... ORPHA:324636
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Increased C-peptide level ORPHA:324575
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Evans Syndrome
Epistaxis, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypoproteinemia, Tachycardia, Ventricular septal defect, Elevated circulat... ORPHA:26793
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Lethal Congenital Contracture Syndrome 5
Death in infancy, Elevated circulating creatine kinase concentration, Polyhydramnios, Subdural he... OMIM:615368
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Pedal edema, Growth delay, Ascites, Increas... ORPHA:77259
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Hypophosphatasia, Infantile
Death in infancy, Polyhydramnios, Intracranial hemorrhage, Stillbirth, Disproportionate short-lim... OMIM:241500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma... OMIM:300845
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... ORPHA:3099
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... ORPHA:464329
Optic Atrophy 1
Pallor OMIM:165500
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... OMIM:235510
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Pe... ORPHA:199241
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated creatine kinase after exercise, Sudden cardiac death, Congestive heart failure, Cerebell... ORPHA:99901
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferritin concentration, En... OMIM:619313
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... ORPHA:36412
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... ORPHA:90308
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyhydramnios, Pericardial effusion, Decreased circulating antibody level, Hem... OMIM:618183
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Monoclonal i... ORPHA:33226
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induce... OMIM:155100
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Hypertension, Periph... ORPHA:79126
Pseudo-Torch Syndrome 3
Death in infancy, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration... OMIM:618886
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia ORPHA:3386
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Aplasia Cutis Congenita
Prolonged bleeding time, Skin ulcer, Spinal dysraphism ORPHA:1114
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Subdural hemorrhage, Polyhydramnios OMIM:618291
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... ORPHA:494424
Lymphoproliferative Syndrome 1
Elevated circulating C-reactive protein concentration, Pericardial effusion, Increased circulatin... OMIM:613011
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Abnormal vascul... ORPHA:781
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Leishmaniasis
Abnormal bleeding, Skin ulcer, Hypoalbuminemia, Pallor, Increased circulating antibody level ORPHA:507
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage, Increased circulating IgE level, Growth delay, Incr... OMIM:243700
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension, Gro... OMIM:614424
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca... OMIM:618280
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Pediatric Systemic Lupus Erythematosus
Edema, Raynaud phenomenon, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Increased circulating IgE level, Stroke ORPHA:1163
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Short stature, Dehydration OMIM:606054
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Chédiak-Higashi Syndrome
Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Increased circulating ferritin concent... ORPHA:167
Hemoglobin D Disease
Pallor ORPHA:90039
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Poems Syndrome
Edema, Pericardial effusion, Increased circulating antibody level, Pulmonary arterial hypertensio... ORPHA:2905
Stormorken Syndrome
Abnormal bleeding, Short stature, Elevated circulating creatine kinase concentration, Epistaxis, ... OMIM:185070
Tarp Syndrome
Atrial septal defect, Subdural hemorrhage, Neonatal death, Intrauterine growth retardation, Tetra... OMIM:311900
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Decreased circul... ORPHA:231625
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Refractory Anemia With Excess Blasts
Abnormal bleeding, Abnormal circulating protein concentration, Anemic pallor, Abnormal circulatin... ORPHA:86839
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Gingival bleeding ORPHA:98870
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... ORPHA:244242
Breath-Holding Spells
Pallor OMIM:607578
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... ORPHA:77261
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis ORPHA:638
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Increased circulating interleukin 6 concentration, Epistaxis, Hematemesis, Ca... ORPHA:340
Classical-Like Ehlers-Danlos Syndrome Type 2
Redundant skin, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral v... ORPHA:536532
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:187900
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Aicardi-Goutieres Syndrome 7
Edema, Hematemesis, Pericardial effusion, Increased circulating ferritin concentration, Vasculiti... OMIM:615846
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure, Pallor ORPHA:75564
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Increased circulating interleukin 6 concentration, Edema, Elevate... ORPHA:90051
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Alg9-Cdg
Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Pericardial effusion, Wide anteri... ORPHA:79328
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Mirage Syndrome
Short stature, Patent ductus arteriosus, Intracranial hemorrhage, Intrauterine growth retardation... OMIM:617053
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Fetal intraventricular hemorrhage, Short stature, Oligohydramnios OMIM:618480
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:251000
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Chylothorax, Death in childhood OMIM:620278
Myopathic Ehlers-Danlos Syndrome
Pallor, Mildly elevated creatine kinase ORPHA:536516
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Short stature, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenou... ORPHA:109
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... OMIM:609053
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Increased circulating ferritin concentration, Pallor, Delayed puberty OMIM:600462
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemic pallor, Edema, Growth delay, Hematochezia ORPHA:329971
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae OMIM:314050
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Prolonged prothrombin time, Pallor, H... ORPHA:20
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Reduced haptoglobin level, Nonimmune hydrops fetalis OMIM:266200
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Arteriovenous malformation ORPHA:1059
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Retinitis Pigmentosa 51
Pallor OMIM:613464
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Increased circulating ferritin concentration, Pallor OMIM:615234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardi... OMIM:608836
Dravet Syndrome
Pallor ORPHA:33069
Hennekam Syndrome
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, ... ORPHA:2136
Methylmalonic Acidemia With Homocystinuria Type Cblf
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morpho... ORPHA:79284
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Edema, Polyhydramnios, Cardiomegaly, Abnormal retinal art... ORPHA:51608
Beta-Ketothiolase Deficiency
Edema, Dehydration, Hypertension, Pallor, Hypotension ORPHA:134
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Delayed puberty, Low-to-normal b... ORPHA:358
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231226
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Elevated circulating alpha-fetoprotein concentration,... ORPHA:420741
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Aymé-Gripp Syndrome
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar... ORPHA:1272
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Coarcta... OMIM:139210
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... ORPHA:182050
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood OMIM:246450
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Lack of skin elasticity, Caro... ORPHA:740
Essential Thrombocythemia
Prolonged bleeding time, Abnormal cerebral vascular morphology, Transient ischemic attack, Myocar... ORPHA:3318
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Short stature, Decreased circulating renin level ORPHA:90795
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Hereditary Spherocytosis
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer ORPHA:231222
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Heart murmur, Intracranial he... ORPHA:163979
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature, Subdural hemorrhage, Art... ORPHA:536545
Aregenerative Anemia
Abnormal bleeding, Abnormality of interleukin secretion, Bruising susceptibility, Pallor ORPHA:101096
Myelofibrosis
Pallor, Purpura OMIM:254450
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231214
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lympha... ORPHA:538
Myopathy, Mitochondrial, And Ataxia
Growth delay, Pallor, Short stature, Elevated circulating creatine kinase concentration OMIM:617675
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... ORPHA:892
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis OMIM:601399
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Short stature OMIM:616430
Hydranencephaly
Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent... ORPHA:2177
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Edema, Myocarditis, Abnormality of interferon ... ORPHA:544482
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Coarctati... OMIM:105650
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ... OMIM:203300
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Decreased circulating total IgM, Pallor, Decreased circulat... ORPHA:331206
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... ORPHA:90062
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:614074
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Pallor, Hypotension ORPHA:98849
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage, Short stature OMIM:619714
Irida Syndrome
Pallor ORPHA:209981
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Cold Agglutinin Disease
Pallor ORPHA:56425
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Increased circulating ferritin concentration, Pallor ORPHA:300298
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Pallor ORPHA:54028
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aorti... ORPHA:90324
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myocarditis, Xerostomia, Join... ORPHA:809
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, In... OMIM:619472
Incontinentia Pigmenti
Pallor, Erythema, Short stature, Retinal hemorrhage OMIM:308300
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Striae distensae ORPHA:199244
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Increased circulating an... OMIM:181000
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Short stature, Rhizomelia, Cerebral hemorr... ORPHA:666
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Hereditary Folate Malabsorption
Pallor, Decreased circulating antibody level ORPHA:90045
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Polyhydramnios OMIM:613603
Arachnoid Cyst
Encephalocele, Subarachnoid hemorrhage ORPHA:2356
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Fumarase Deficiency
Ascites, Perimembranous ventricular septal defect, Pallor, Polyhydramnios OMIM:606812
Retinitis Pigmentosa 75
Pallor OMIM:617023
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Growth delay, Pallor, Pulmonary a... ORPHA:667
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Dpagt1-Cdg
Intracranial hemorrhage, Anasarca, Prolonged QT interval, Stroke-like episode ORPHA:86309
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor, Short stature, Intrauterine growth retardation, Bruisin... OMIM:227645
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood OMIM:557000
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology OMIM:600901
Degcags Syndrome
Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Persistent left... OMIM:619488
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Growth delay, Pallor, Tetralogy ... ORPHA:1199
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Pallor OMIM:194380
Childhood Absence Epilepsy
Pallor ORPHA:64280
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Severe short stature... ORPHA:90349
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology OMIM:227650
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... ORPHA:363958
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Pallor OMIM:300908
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnor... ORPHA:124
Letterer-Siwe Disease
Pallor OMIM:246400
Elliptocytosis 1
Pallor OMIM:611804
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Increased circulating IgA level, Hematemesis, Reduced natural... OMIM:301000
Multiple Endocrine Neoplasia Type 2
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Bruising susce... OMIM:227646
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Polyhydramnios, Intracranial hemorrhage, Growth delay, Intraute... OMIM:613406
Meningioma
Syncope, Cerebral hemorrhage ORPHA:2495
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Joint ... ORPHA:287
Pmm2-Cdg
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Reduced thyroxin-binding globuli... ORPHA:79318
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentration, Cerebral he... OMIM:175780
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Elevated circulating creatine kinase concentration OMIM:253280

Histopathology

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

There is no histopathology data for Tfpi

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 Tfpi.

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

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MGI Allele Allele Type Produced
Tfpitm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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