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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
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... ORPHA:36382
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
Nephrosialidosis
Ascites, Bone-marrow foam cells, Pericardial effusion, Death in childhood OMIM:256150
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderma gangrenosum, El... ORPHA:49566
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Erythema, Angioe... ORPHA:449285
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Hemophilia B
Joint hemorrhage, Prolonged bleeding after dental extraction, Spontaneous, recurrent epistaxis, C... ORPHA:98879
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Strok... ORPHA:49827
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... ORPHA:465
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage, Miscarriage ORPHA:98880
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Lymphedema, Pallor, Intracranial hemorrhage, Prolonged bleeding time ORPHA:3226
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... ORPHA:98878
Menkes Disease
Decreased circulating ceruloplasmin concentration, Intrauterine growth retardation, Death in chil... OMIM:309400
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Fetal Gaucher Disease
Death in infancy, Neonatal death, Stillbirth, Intracranial hemorrhage, Hydrops fetalis ORPHA:85212
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Venous insufficiency, Arrhythmia, Int... ORPHA:624
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Decreased circulating total ... OMIM:182410
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Drug-Induced Lupus Erythematosus
Pericardial effusion, Petechiae, Elevated circulating creatine kinase concentration, Elevated cir... ORPHA:231111
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia, Increased C-peptide level ORPHA:276556
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, De... ORPHA:280679
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Impaired ristocetin-induced platelet aggregation,... OMIM:614201
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Tempi Syndrome
Ascites, Transudative pleural effusion, Telangiectasia, Facial erythema, Increased circulating Ig... ORPHA:284227
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia, Increased C-peptide level ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia, Increased C-peptide level ORPHA:276580
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Growth delay, Pallor OMIM:613561
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Increased myocardial glycogen content, Ventricular fi... OMIM:261740
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Elevated circulating creatine kinas... OMIM:618775
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Generalized edema, Intestinal lymphangiectasia,... ORPHA:90362
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Pallor, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal ... OMIM:619055
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Congenital Enterovirus Infection
Hypoalbuminemia, Hypotension, Fetal ascites, Abnormal bleeding, Cardiomyopathy, Pleural effusion,... ORPHA:292
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Death in infancy, Aortic aneurysm, ... OMIM:620070
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Edem... ORPHA:324636
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Cardiomyopathy, Stroke-like episode, Decreased ... OMIM:212065
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope ORPHA:1959
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Ascites, Dry skin, Intrauterine growth retardation, Portal hypertension, Left ve... OMIM:619487
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Pallor, Syncope, Tachycardia, Increased C-peptide level ORPHA:324575
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Polyhydramnios, Death in infancy, Elevated circulating creatine kinase conce... OMIM:615368
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Pericardial effusion, Patent foramen ovale, Eleva... ORPHA:26793
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Abnormal lymphatic vesse... ORPHA:464329
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Death in infancy, Stillbirth, Polyhydramnios, Intracra... OMIM:241500
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Postnatal... OMIM:300845
Rheumatic Fever
Epistaxis, Erythema, Abnormal heart valve morphology, Pallor, Abnormal mitral valve morphology, A... ORPHA:3099
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Umbilical hernia, Intestinal lymphangiectasia, Lymphedema, Mild postnatal growth... OMIM:235510
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Increased circulating ferritin concentration, Endocardial fibroelasto... OMIM:619313
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Sma... ORPHA:36412
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Ascite... ORPHA:99827
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Ascites, Atrial septal defect, Pericardial effusion, Hydrops fetalis OMIM:608776
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Anasarca, Ascites, Pleural effusion, Death in infancy, Polyhydramn... OMIM:618183
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... ORPHA:90308
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Peau ... OMIM:177850
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:155100
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Monoclonal immunoglobulin ... ORPHA:33226
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Ascites, Pleural effusion, Petechiae, Bradycardia, Cerebral hemorr... OMIM:617397
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Hypertension, Elevated circulating C-reactive protein concent... ORPHA:79126
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Death in infancy, Cardiomegaly, Cerebral hemorrhage... OMIM:618886
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Parkes Weber Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Arteriovenous malformation, Myelop... ORPHA:90307
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis, Edema ORPHA:3386
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Spina bifida occulta, Subdural hemorrhage OMIM:618291
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... OMIM:605714
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Q Fever
Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:781
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Heart murmur, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Aplasia Cutis Congenita
Erythema, Spinal dysraphism, Skin ulcer, Prolonged bleeding time ORPHA:1114
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Tetralogy of Fallot,... OMIM:618280
Aspergillosis
Stroke, Increased circulating IgE level, Intracranial hemorrhage, Pleural effusion ORPHA:1163
Optic Atrophy 1
Pallor OMIM:165500
Leishmaniasis
Hypoalbuminemia, Abnormal bleeding, Skin ulcer, Pallor, Increased circulating antibody level ORPHA:507
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Increased circulating ferritin concentration, Pleural effusion, ... OMIM:613011
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Raynaud phenomenon, Pericardial effusion, Edema ORPHA:93552
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Joubert Syndrome 14
Growth delay, Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hyp... OMIM:614424
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Propionic Acidemia
Short stature, Cerebellar hemorrhage, Dehydration, Cardiomyopathy OMIM:606054
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Hemoglobin D Disease
Pallor ORPHA:90039
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Abnormal circulating albumin concentration, Anemic pallor, Abnor... ORPHA:86839
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Oral cavity bleeding, Pallor, Melena, Short stature, Post-partum hemorrhage ORPHA:98870
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Elevated circulating ... OMIM:185070
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth retardation, Oligohydramnios, Neona... OMIM:311900
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Decreased circulating renin level, Intracranial hemorrh... ORPHA:231625
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Bruising s... ORPHA:167
Poems Syndrome
Ascites, Pleural effusion, Increased circulating antibody level, Pulmonary arterial hypertension,... ORPHA:2905
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Congestive heart failure ORPHA:90037
Breath-Holding Spells
Pallor OMIM:607578
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... ORPHA:244242
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Increased circulating antibody level... ORPHA:77261
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Short stature, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Bruising susceptibility, Prominent veins on trunk, Umbilical hernia, Redund... ORPHA:536532
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Increased circulating ferritin concentration, Hypertrophic cardiomyopat... OMIM:615846
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech... ORPHA:340
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Essential Thrombocythemia
Abnormal bleeding, Abnormal cerebral vascular morphology, Prolonged bleeding time, Bruising susce... ORPHA:3318
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Pallor, Congestive heart failure ORPHA:75564
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Increased circulating interleukin 6 concentration, Pallor, Petech... ORPHA:90051
Glycogen Storage Disease Ii
Sinus tachycardia, Dilatation of the cerebral artery, Pleural effusion, Shortened PR interval, El... OMIM:232300
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Mirage Syndrome
Intrauterine growth retardation, Petechiae, Short stature, Intracranial hemorrhage, Patent ductus... OMIM:617053
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor OMIM:615631
Alg9-Cdg
Rhizomelia, Tricuspid regurgitation, Abnormal heart morphology, Oligohydramnios, Abnormal renal a... ORPHA:79328
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Short stature, Fetal intraventricular hemorrhage, Oligohydramnios, Increased nuchal translucency OMIM:618480
Myopathic Ehlers-Danlos Syndrome
Pallor, Mildly elevated creatine kinase ORPHA:536516
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Death in childhood, Death in infancy, Cerebral hemorrhage OMIM:620278
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time OMIM:177820
Abeta Amyloidosis, Dutch Type
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100006
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Dry skin, Intrauterine grow... ORPHA:565
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Lymphedema, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris,... ORPHA:109
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty, Increased circulating ferritin concentration, Growth delay OMIM:600462
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Dehydration, Cardiomyopathy OMIM:251000
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ... OMIM:609053
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Bruising susceptibility, Prolonged bleeding time OMIM:314050
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:301081
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Dehydration, Pallor, Prolonged prothrombin time, Cardiac arr... ORPHA:20
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Pallor, Congestive heart failure ORPHA:90033
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Reduced haptoglobin level, Nonimmune hydrops fetalis OMIM:266200
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Anemic pallor, Growth delay, Edema ORPHA:329971
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Increased circulating IgE level, Subarachnoid hemorrhage, Decreased circulat... OMIM:243700
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen ovale, Card... OMIM:620371
Blue Rubber Bleb Nevus
Intestinal bleeding, Arteriovenous malformation, Prolonged bleeding time ORPHA:1059
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Transient ische... ORPHA:3260
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired thrombin-induced platelet aggrega... OMIM:139090
Dravet Syndrome
Pallor ORPHA:33069
Slc35A1-Cdg
Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time ORPHA:238459
Acys Amyloidosis
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100008
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intrauterine growth retardation, Intraventricular hemorrhage, Growth d... ORPHA:79284
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Pallor, Delayed pubert... ORPHA:91347
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Oligohydramnios, Death in infancy, Elevated circulating creatine kinase c... OMIM:608836
Beta-Ketothiolase Deficiency
Hypotension, Edema, Pallor, Hypertension, Dehydration ORPHA:134
Hennekam Syndrome
Arteriovenous malformation, Chylothorax, Lymphedema, Ascites, Mild postnatal growth retardation, ... ORPHA:2136
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art... ORPHA:51608
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Pallor, Death in childhood, Dehydration OMIM:246450
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Del... ORPHA:231226
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Myhre Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Pericardial effusion, Ventricular septal ... OMIM:139210
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, ST segment depression, Syn... ORPHA:358
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor, Increased circulating ferritin concentration OMIM:615234
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Riddle Syndrome
Decreased circulating IgG level, Erythema, Decreased circulating IgA level, Telangiectasia, Conju... ORPHA:420741
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Myh9-Related Disease
Prolonged bleeding time, Bruising susceptibility, Spontaneous, recurrent epistaxis, Myocardial in... ORPHA:182050
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Aymé-Gripp Syndrome
Postnatal growth retardation, Short stature, Pericardial effusion, Patent ductus arteriosus, Peri... ORPHA:1272
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Intra... ORPHA:79282
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcutaneous hemorrh... ORPHA:394
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Skin ulcer, Pallor ORPHA:822
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Intracranial hemorrhage, Hypertension, Decreased circulating renin level ORPHA:90795
Beta-Thalassemia Intermedia
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure ORPHA:231222
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial rupture, Bicuspid aortic... ORPHA:536545
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Short stature, Heart mu... ORPHA:163979
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Del... ORPHA:231214
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Ch... ORPHA:538
Aregenerative Anemia
Abnormal circulating interleukin concentration, Abnormal bleeding, Bruising susceptibility, Pallor ORPHA:101096
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:601399
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor, Elevated circulating creatine kinase concentration OMIM:617675
Von Hippel-Lindau Disease
Macular edema, Cardiomyopathy, Palpitations, Pallor, Stroke, Arrhythmia, Myocarditis, Abnormal le... ORPHA:892
Imerslund-Gräsbeck Syndrome
Tachycardia, Abnormal bleeding, Pallor ORPHA:35858
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Abnormal internal carotid artery m... ORPHA:2177
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Myelofibrosis
Purpura, Pallor OMIM:254450
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Intraventricular hemorrhage OMIM:616430
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Dehydration ORPHA:2131
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Ecchymosis, ... OMIM:203300
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Hypertensive crisis, Generalized edema, Increased c... ORPHA:544482
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Prolonged bleeding... OMIM:614074
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pallor, Decreased circulating t... ORPHA:331206
Diamond-Blackfan Anemia 1
Congestive heart failure, Intrauterine growth retardation, Pallor, Ventricular septal defect, Coa... OMIM:105650
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope, Pallor ORPHA:98849
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Short stature, Intrauterine growth retardation, Subdural hemorrhage OMIM:619714
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Increased circulating Ig... OMIM:619472
Irida Syndrome
Pallor ORPHA:209981
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Cold Agglutinin Disease
Pallor ORPHA:56425
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro... ORPHA:90324
Sheehan Syndrome
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Plummer-Vinson Syndrome
Pallor, Decreased circulating ferritin concentration ORPHA:54028
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor, Increased circulating ferritin concentration ORPHA:300298
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid... ORPHA:247245
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Xerostomia, Joint swelling, Pulmonary arterial hypertension, Myocard... ORPHA:809
Incontinentia Pigmenti
Retinal hemorrhage, Erythema, Short stature, Pallor OMIM:308300
Nelson Syndrome
Striae distensae, Intracranial hemorrhage, Hypertension ORPHA:199244
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Increased circulating an... OMIM:181000
Neuroblastoma
Abnormal bleeding, Anemic pallor, Hypertension, Increased circulating ferritin concentration ORPHA:635
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Rhizomelia, Aortic root aneurysm, Aortic dissection, B... ORPHA:666
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Hereditary Folate Malabsorption
Decreased circulating antibody level, Pallor ORPHA:90045
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Polyhydramnios, Intraventricular hemorrhage OMIM:613603
Fumarase Deficiency
Ascites, Perimembranous ventricular septal defect, Polyhydramnios, Pallor OMIM:606812
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Retinitis Pigmentosa 75
Pallor OMIM:617023
Arachnoid Cyst
Subarachnoid hemorrhage, Encephalocele ORPHA:2356
Dpagt1-Cdg
Prolonged QT interval, Anasarca, Intracranial hemorrhage, Stroke-like episode ORPHA:86309
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage OMIM:616507
Autosomal Recessive Malignant Osteopetrosis
Bruising susceptibility, Abnormal pulmonary valve morphology, Pallor, Pulmonary artery stenosis, ... ORPHA:667
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Intrauterine growth retardation, Ventricular septal defect, Anemic pallo... OMIM:227645
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor, Death in childhood, Hydrops fetalis, Dehydration OMIM:557000
Degcags Syndrome
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Persist... OMIM:619488
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Bruising susceptibility, Abnormal heart morphology OMIM:600901
Esophageal Atresia
Tetralogy of Fallot, Pallor, Ventricular septal defect, Coarctation of aorta, Polyhydramnios, Gro... ORPHA:1199
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor, Increased circulating ferritin concentration OMIM:194380
Childhood Absence Epilepsy
Pallor ORPHA:64280
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Bruising susceptibility, Abnormal heart morphology OMIM:227650
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Ventricular septal defec... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Ventricular septal defec... ORPHA:363958
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Diamond-Blackfan Anemia
Abnormal heart morphology, Radial artery aplasia, Pallor, Ventricular septal defect, Nonimmune hy... ORPHA:124
Letterer-Siwe Disease
Pallor OMIM:246400
Wiskott-Aldrich Syndrome
Gingival bleeding, Epistaxis, Decreased specific anti-polysaccharide antibody level, Increased ci... OMIM:301000
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Elliptocytosis 1
Pallor OMIM:611804
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Polyhydramnios, Short stature, Intracranial h... OMIM:613406
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma ORPHA:653
Fanconi Anemia, Complementation Group D2
Bruising susceptibility, Abnormal heart morphology, Anemic pallor, Short stature, Patent ductus a... OMIM:227646
Meningioma
Syncope, Cerebral hemorrhage ORPHA:2495
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Classical Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Dilatation ... ORPHA:287
Pmm2-Cdg
Hypoalbuminemia, Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Reduced thyroxin-binding glob... ORPHA:79318
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... OMIM:175780
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension 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
Pulmonary hemorrhage, Pallor 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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