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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Stroke, Myocardial infarction, Supraventricular tachycardia, Abnor... ORPHA:90064
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
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
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Stroke, Left bundle bra... OMIM:115197
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Menkes Disease
Intracranial hemorrhage, Cutis laxa, Death in childhood, Short stature, Intrauterine growth retar... OMIM:309400
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Cerebral Cavernous Malformations
Intracranial hemorrhage OMIM:116860
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Snakebite Envenomation
Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis, Erythema, ... ORPHA:449285
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Pyoderma gangrenosum, Elevated cir... ORPHA:49566
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Prolonged bleeding after dental extrac... OMIM:619267
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Stroke, Congestiv... ORPHA:49827
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Nephrosialidosis
Pericardial effusion, Death in childhood, Ascites OMIM:256150
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Congenital Factor Xiii Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Bleeding wi... ORPHA:331
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Lymphedema, Bruising susceptibility, Pallor ORPHA:3226
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Tricuspid regurgitation, Pulmonic stenosis, Cong... ORPHA:2414
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Fetal Gaucher Disease
Hydrops fetalis, Stillbirth, Intracranial hemorrhage, Death in infancy, Neonatal death ORPHA:85212
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypoalbuminemia, Hypertension, Pedal edema ORPHA:84090
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Myocardial fibrosis, Joint he... ORPHA:465
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Petechiae, Elevated circulating C-reactive protein concentrat... ORPHA:231111
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Pallor OMIM:268040
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebral hemorrh... ORPHA:99828
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Stroke, Cerebral hemorrhage, Cerebral isc... ORPHA:136
Retinitis Pigmentosa 42
Pallor OMIM:612943
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr... ORPHA:99147
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Familial Multiple Nevi Flammei
Arrhythmia, Intracranial hemorrhage, Pulmonary embolism, Edema, Skin ulcer ORPHA:624
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Increased C-peptide level, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Stroke-like episode, Abnormal left ventricle morphology... OMIM:300845
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Hypertension, Delayed puberty, Cerebral hemorrhage, Short s... ORPHA:280679
Retinitis Pigmentosa 60
Pallor OMIM:613983
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Syncope, Increased C-peptide level, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Retinitis Pigmentosa 81
Pallor OMIM:617871
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Syncope, Increased C-peptide level, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Optic Atrophy 9
Pallor OMIM:616289
Cerebral Cavernous Malformations 3
Cerebral hemorrhage OMIM:603285
Tempi Syndrome
Facial erythema, Intracranial hemorrhage, Increased circulating IgG level, Ascites, Telangiectasi... ORPHA:284227
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Death in adolescence, Death in infancy, Elevated circulating creatin... OMIM:619055
Familial Afibrinogenemia
Abnormal bleeding, Joint swelling, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Congenital Enterovirus Infection
Polyhydramnios, Abnormal bleeding, Hydrops fetalis, Hypotension, Pleural effusion, Pericardial ef... ORPHA:292
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Congestive heart failure, Pallor ORPHA:163596
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Gastrointestinal hemorrhage, Intracranial hemorrhag... ORPHA:324636
Hypophosphatasia, Infantile
Polyhydramnios, Stillbirth, Intracranial hemorrhage, Death in infancy, Disproportionate short-lim... OMIM:241500
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Cerebral vasculitis, Stroke ORPHA:140989
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Cantu Syndrome
Lymphedema, Pericardial effusion, Umbilical hernia, Congenital hypertrophy of left ventricle, Car... OMIM:239850
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Increased C-peptide level, Tachycardia, Pallor, Syncope ORPHA:324575
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctiva... ORPHA:340
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Cyclic Vomiting Syndrome
Growth delay, Pallor, Cardiomyopathy OMIM:500007
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Elevated circulating creatine kinase concentrati... OMIM:618775
Evans Syndrome
Syncope, Epistaxis, Petechiae, Bruising susceptibility, Pallor ORPHA:1959
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defec... ORPHA:26793
Gaucher Disease Type 1
Increased circulating antibody level, Growth delay, Pericardial effusion, Pedal edema, Delayed pu... ORPHA:77259
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Cardiomyopathy, Stroke-like episode, Nonimmune hydrops fetalis, Hypoalbumin... OMIM:212065
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Ascites OMIM:608776
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Pleural... ORPHA:464329
Optic Atrophy 1
Pallor OMIM:165500
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Elevated creatine kinase after exercise, Congestive ... ORPHA:99901
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... ORPHA:90065
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Growth delay, Pallor OMIM:615234
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Death in infancy, Hypertension, Cerebral hemorrhage... OMIM:618886
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion,... ORPHA:36412
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Pleural effusion, Hemothorax, Peri... ORPHA:199241
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Prothrombin Deficiency, Congenital
Ecchymosis, Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Me... OMIM:613679
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Prolonged bleeding after surgery, Impaired platelet aggregation... OMIM:193400
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morphology, G... ORPHA:53719
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Aplasia Cutis Congenita
Spinal dysraphism, Prolonged bleeding time, Skin ulcer ORPHA:1114
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Left ventricular hypertrophy, Prolonged QT inte... ORPHA:251274
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Bradycardia, Ascites OMIM:617397
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Edema, Myocarditis, Periorbital edema, Pallor, Cardiomyopathy ORPHA:3386
Neurocutaneous Melanocytosis
Meningocele, Death in infancy, Intracranial hemorrhage ORPHA:2481
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired p... OMIM:277480
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Lymphedema, Pleural effusion, Pericardial effusi... OMIM:235510
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Menorrhagia, Bruisi... OMIM:155100
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Peripheral edema, Hypertension, Elevated circulating C-re... ORPHA:79126
Retinitis Pigmentosa 70
Pallor OMIM:615922
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Pleural effusion, Pedal edema, Epistaxis, Stroke, Congestiv... ORPHA:33226
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Restrictive cardiomyopathy, Pericardial effusion, E... OMIM:619313
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
Polycythemia Vera
Cerebral hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Gastrointestinal hemorrhage OMIM:263300
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhe... OMIM:209050
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Klippel-Trénaunay Syndrome
Hydrops fetalis, Prolonged bleeding time, Atrial septal defect, Gastrointestinal hemorrhage, Inte... ORPHA:90308
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Pleural effusion, Pericardial effusion, Decreased c... OMIM:613011
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Hematochezia, Pleural effusion, Pericardial effusion, Decreased circula... OMIM:618183
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave, Decreased circul... ORPHA:231625
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormal bleeding, Hypoproteinemia, Pleural effusio... ORPHA:167
Poems Syndrome
Pleural effusion, Pericardial effusion, Increased circulating antibody level, Edema, Ascites, Pul... ORPHA:2905
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Pericardial effusion, Edema, Ascites, Raynaud phenomenon ORPHA:93552
Wiskott-Aldrich Syndrome
Abnormal platelet function, Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, In... ORPHA:906
Leishmaniasis
Abnormal bleeding, Increased circulating antibody level, Hypoalbuminemia, Pallor, Skin ulcer ORPHA:507
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema... ORPHA:90362
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Q Fever
Endocarditis, Pericarditis, Purpura, Abnormal heart valve morphology, Pleural effusion, Pericardi... ORPHA:781
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Paroxysmal Nocturnal Hemoglobinuria
Abnormal bleeding, Angina pectoris, Cerebral artery stenosis, Pulmonary embolism, Myocardial infa... ORPHA:447
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Increased circulating IgE level, Stroke ORPHA:1163
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Pseudoxanthoma Elasticum, Forme Fruste
Peau d'orange, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Mitral valve pr... OMIM:177850
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Prolonged bleeding time, Short stature, Hypertrophic cardiomyopathy ORPHA:638
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Tachycardia ORPHA:90037
Breath-Holding Spells
Pallor OMIM:607578
Hellp Syndrome
Internal hemorrhage, Hypotension, Pleural effusion, Cerebral hemorrhage, Pulmonary edema, General... ORPHA:244242
Propionic Acidemia
Short stature, Dehydration, Cerebellar hemorrhage, Cardiomyopathy OMIM:606054
Refractory Anemia With Excess Blasts
Anemic pallor, Abnormal bleeding, Palpitations, Abnormal circulating albumin concentration, Pedal... ORPHA:86839
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Oral cavity bleeding, Melena, Short stature, Pallor, Gingival bleeding ORPHA:98870
Retinitis Pigmentosa 73
Pallor OMIM:616544
Autoimmune Hemolytic Anemia
Arrhythmia, Pallor, Congestive heart failure ORPHA:98375
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke OMIM:263400
Vascular Hyalinosis
Subarachnoid hemorrhage, Hematochezia OMIM:277175
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Delayed puberty, Pallor OMIM:600462
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure, Pallor ORPHA:75564
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Prolonged bleeding time, Epistaxis, Bruising susceptibility OMIM:314050
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Death in early adulthood, Stroke ORPHA:100006
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Hypotension, Bradycardia, Increased circulating interleukin 6, Petech... ORPHA:90051
Primary Myelofibrosis
Abnormal bleeding, Purpura, Petechiae, Portal hypertension, Pallor, Ecchymosis ORPHA:824
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Short stature OMIM:615631
Classical-Like Ehlers-Danlos Syndrome Type 2
Redundant skin, Pericardial effusion, Umbilical hernia, Mitral valve prolapse, Bruising susceptib... ORPHA:536532
Mirage Syndrome
Intracranial hemorrhage, Petechiae, Short stature, Intrauterine growth retardation OMIM:617053
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Premature skin wrinkling, Intracranial hemorrhage, Mitral valve calcific... ORPHA:363618
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Petechiae, Br... OMIM:187900
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Edema OMIM:617822
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Extracranial Carotid Artery Aneurysm
Arteritis, Subarachnoid hemorrhage, Hypertension, Stroke, Cerebral ischemia, Vasculitis, Total an... ORPHA:494424
Sebastian syndrome
Prolonged bleeding time, Epistaxis OMIM:605249
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Myopathic Ehlers-Danlos Syndrome
Mildly elevated creatine kinase, Pallor ORPHA:536516
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Short stature, Intrauterin... OMIM:609053
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Acys Amyloidosis
Cerebral hemorrhage, Death in early adulthood, Stroke ORPHA:100008
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Pericardial effus... ORPHA:91347
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Tachycardia ORPHA:90033
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Abnormal bleeding, Hematochezia, Growth delay, Edema ORPHA:329971
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay, Intraventricular hemorrhage, Abnormal heart morpho... ORPHA:79284
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Supraventricular arrhythmia, Intracranial hemorrhage, Pleural effusion, Vasculiti... ORPHA:3260
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Bruising susceptibility OMIM:600208
Menkes Disease
Gastrointestinal hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Umbilical hernia, In... ORPHA:565
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dehydration, Edema, Cardiac arrest, Dilated cardiomyopathy, Pallor, Prolonged prothr... ORPHA:20
Slc35A1-Cdg
Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Prolonged bleeding time ORPHA:238459
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Lymphedema, Short stature, Subcutaneous hemorrhage, Tel... ORPHA:109
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart morphology, Subdural hemorrhage, Growth d... ORPHA:79282
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis, Hypertension OMIM:108050
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Scaling skin, Elevated alpha-fetoprotei... ORPHA:420741
Gitelman Syndrome
Palpitations, Low-to-normal blood pressure, ST segment depression, Prominent U wave, Pericardial ... ORPHA:358
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:614074
Aymé-Gripp Syndrome
Short stature, Pericardial effusion, Pericarditis, Postnatal growth retardation ORPHA:1272
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Pulmonary arterial hypertension, Transient isch... ORPHA:740
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Dehydration, Edema, Pallor ORPHA:134
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Cerebral arteriovenous malforma... OMIM:610655
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... ORPHA:182050
Dominant Beta-Thalassemia
Arrhythmia, Growth delay, Delayed puberty, High-output congestive heart failure, Dilated cardiomy... ORPHA:231226
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Decreased circulating renin level, Short stature, Hypertension ORPHA:90795
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Prolonged bleeding time, Abnormal cerebral vasc... ORPHA:3318
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Oligohydramnios, Cardiomegaly, Dilated cardiomyop... OMIM:608836
Myhre Syndrome
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Hypertension, Aortic valve... OMIM:139210
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Ischemic stroke, Nail bed telangiectasia, Lip telangiectasia, Hemate... OMIM:600376
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis,... OMIM:614075
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Umbilical hernia, Dextrocardia, Bicuspid... ORPHA:536545
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Pallor, Skin ulcer ORPHA:822
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Pallor, Facial erythema ORPHA:439218
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Death in childhood, Pallor OMIM:246450
Macs Syndrome
Prolonged bleeding time, Palpebral edema, Redundant skin, Cutis laxa, Umbilical hernia, Short sta... OMIM:613075
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ... ORPHA:394
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Tubular Renal Disease-Cardiomyopathy Syndrome
Pericardial effusion, Sudden cardiac death, Congestive heart failure, Pulmonary edema, Dilated ca... ORPHA:73224
Parkes Weber Syndrome
Abnormal bleeding, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, Scaling skin, Ab... ORPHA:90307
Beta-Thalassemia Major
Arrhythmia, Growth delay, Delayed puberty, High-output congestive heart failure, Dilated cardiomy... ORPHA:231214
Aregenerative Anemia
Abnormal bleeding, Abnormality of interleukin secretion, Pallor, Bruising susceptibility ORPHA:101096
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Heart murmur, Short sta... ORPHA:163979
Dravet Syndrome
Pallor ORPHA:33069
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure ORPHA:231222
Myelofibrosis
Pallor, Purpura OMIM:254450
Hennekam Syndrome
Hydrops fetalis, Lymphedema, Decreased circulating antibody level, Pericardial effusion, Mild pos... ORPHA:2136
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Stroke, Myocardial in... ORPHA:892
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:187300
Retinitis Pigmentosa 51
Pallor OMIM:613464
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis, Bruising susceptibility OMIM:601399
Fechtner syndrome
Abnormal bleeding, Menorrhagia, Prolonged bleeding time, Bruising susceptibility OMIM:153640
Myopathy, Mitochondrial, And Ataxia
Elevated circulating creatine kinase concentration, Growth delay, Pallor, Short stature OMIM:617675
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Hydrops fetalis, Left ventricular systolic dysfunction, ... ORPHA:51608
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Ascites, Chylothorax, Chylopericardium ORPHA:538
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Rare Circulatory System Disease
Pallor, Intermittent claudication ORPHA:98028
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hematochezia, Cardiomyopathy, Epistaxis, Bruising susceptibility, Gingiv... OMIM:203300
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension, Shock, Cere... ORPHA:90062
Hydranencephaly
Antenatal intracerebral hemorrhage, Postnatal growth retardation, Abnormal cerebral artery morpho... ORPHA:2177
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Pallor, Syncope ORPHA:98849
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Abnormal T-wave, Dehydration, Pallor, Cardiomyopathy ORPHA:2131
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time OMIM:173420
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... ORPHA:331206
Mixed Connective Tissue Disease
Prolonged bleeding time, Pericarditis, Gastrointestinal hemorrhage, Purpura, Joint swelling, Xero... ORPHA:809
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Pleural empyema, Hypertension, Increased circulating interleukin 6, Edema, A... ORPHA:544482
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia, Pallor, Dry skin ORPHA:91355
Incontinentia Pigmenti
Pallor, Short stature, Retinal hemorrhage, Erythema OMIM:308300
Pituitary Apoplexy
Hypotension, Pallor, Hypertension ORPHA:95613
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Growth delay, Pallor ORPHA:300298
Cold Agglutinin Disease
Pallor ORPHA:56425
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion, Increased circulating an... OMIM:181000
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Striae distensae ORPHA:199244
Cockayne Syndrome Type 3
Subdural hemorrhage, Stroke, Mild postnatal growth retardation, Increased blood pressure, Retinal... ORPHA:90324
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Sh... OMIM:105650
Irida Syndrome
Pallor ORPHA:209981
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Rhizomelia, Cutis laxa, Growth delay, Umbi... ORPHA:666
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Pallor ORPHA:54028
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Senior-Loken Syndrome 8
Pallor OMIM:616307
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hereditary Folate Malabsorption
Decreased circulating antibody level, Pallor ORPHA:90045
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Fanconi Anemia, Complementation Group C
Anemic pallor, Ventricular septal defect, Short stature, Intrauterine growth retardation, Bruisin... OMIM:227645
Fumarase Deficiency
Pallor OMIM:606812
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Fanconi Anemia, Complementation Group E
Anemic pallor, Bruising susceptibility, Short stature, Abnormal heart morphology OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor, Bruising susceptibility, Short stature, Abnormal heart morphology OMIM:227650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Pallor OMIM:194380
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Abnormal heart morphology, Ventr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Abnormal heart morphology, Ventr... ORPHA:363958
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Bruising susceptibility, Abnormal pulmonary valve morphology, Pulmonary arterial hy... ORPHA:667
Letterer-Siwe Disease
Pallor OMIM:246400
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Pallor, Hypertension associated with pheochromocytoma ORPHA:653
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial septal defect, Dermal translucency, Subarachnoid hemorrhage, Atri... OMIM:613795
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Small vessel vasculitis, Decreased specific anti-polysaccharide antibody... OMIM:301000
Elliptocytosis 1
Pallor OMIM:611804
Childhood Absence Epilepsy
Pallor ORPHA:64280
Wiskott-Aldrich Syndrome, Autosomal Dominant
Small vessel vasculitis, Prolonged bleeding time, Decreased specific anti-polysaccharide antibody... OMIM:600903
Meningioma
Cerebral hemorrhage, Syncope ORPHA:2495
Esophageal Atresia
Polyhydramnios, Ventricular septal defect, Growth delay, Tetralogy of Fallot, Pallor ORPHA:1199
Pmm2-Cdg
Anasarca, Pericarditis, Angina pectoris, Intracranial hemorrhage, Lymphedema, Pericardial effusio... ORPHA:79318
Blackfan-Diamond Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Growth delay, Nonimmu... ORPHA:124
Fanconi Anemia, Complementation Group D2
Anemic pallor, Bruising susceptibility, Short stature, Abnormal heart morphology OMIM:227646
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Joint swelling, Orthostatic hypotension, Abnormal heart valve physiology... ORPHA:287
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage ORPHA:221061
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Ischemic stroke, Corneal... OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Pallor OMIM:253280
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter