Gene Summary

Name:
ETS transcription factor
Synonyms:
D030036I24Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Ergem1(IMPC)Bay HET Early adult 0.00
abnormal coat appearance Ergem1(IMPC)Bay HET Early adult 4.46×10-05
increased heart left ventricle size Ergem1(IMPC)Bay HET Early adult 4.61×10-09
thick ventricular wall Ergem1(IMPC)Bay HET Early adult 8.51×10-09
abnormal eye posterior chamber depth Ergem1(IMPC)Bay HET   Early adult 9.32×10-05
preweaning lethality, complete penetrance Ergem1(IMPC)Bay HOM   Early adult 0.00
decreased leukocyte cell number Ergem1(IMPC)Bay HET Early adult 2.30×10-07
prenatal lethality prior to heart atrial septation Ergem1(IMPC)Bay HOM   E15.5 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right eye

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left eye

14 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Erg 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.

The table below shows human diseases associated to Erg by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphatic Malformation 14
Lymphedema OMIM:620602

The table below shows human diseases predicted to be associated to Erg by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Pulmonary arterial hypertension, Pulmonary venous occlusion, In... OMIM:265450
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Abnormal jugular vein morphology, P... ORPHA:275766
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Heparin-Induced Thrombocytopenia
Stroke, Cerebral ischemia, Autoimmune thrombocytopenia, Pulmonary embolism, Myocardial infarction... ORPHA:3325
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Pulmonary edema, Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Su... ORPHA:75249
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Endocardial fibrosis, ... OMIM:613255
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema, Pulmonary arterial hypertension, Abnormal cerebral vascular morphology OMIM:152900
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension OMIM:234810
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Pulmonary edema... ORPHA:57777
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Pedal e... ORPHA:199241
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Anemia, Chylothorax, Lymphedema, Pleural eff... OMIM:617300
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Acquired Idiopathic Sideroblastic Anemia
Abnormal megakaryocyte morphology, Normochromic anemia, Anemia of inadequate production, Bone mar... ORPHA:75564
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria... ORPHA:99105
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon... ORPHA:422
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Pulmonary Hypertension, Primary, 5
Angina pectoris, Pulmonary arterial hypertension, Right ventricular failure, Right ventricular hy... OMIM:265400
Aorta Coarctation
Congestive heart failure, Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardio... ORPHA:1457
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Left-to-right shunt, Hypoplasia of the diaphragm, Abn... ORPHA:185
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Abnormal cardiac ventricular function, Midsystolic murmur, Right ventricular hypert... ORPHA:1677
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Erythrocytosis, Familial, 2
Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Increased ci... OMIM:263400
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Heart murmur, Left ventricular hypertro... ORPHA:563
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal aortic valve morphology, Vascular dilatation, Anemia, V... ORPHA:3287
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Pulmonary Arteriovenous Malformation
Ischemic stroke, Myocardial infarction, Abnormal bleeding, Iron deficiency anemia, Bacterial endo... ORPHA:2038
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Isovaleric Acidemia
Cerebellar hemorrhage, Pancytopenia, Dehydration, Bone marrow hypocellularity, Thrombocytopenia, ... OMIM:243500
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Erythroid hyperplasia, Anemia, Increased mean corpuscular volume, Hypertension, Ventricular septa... OMIM:617021
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Recurrent pharyngitis, Hemophagocytosis, Pancytopenia, Lymphocytos... OMIM:308240
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Usu... OMIM:178500
Wild Type Attr Amyloidosis
Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary edema, Hepatomega... ORPHA:330001
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Vasculitis, Hypotension, Pneumonia, Shock ORPHA:70578
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Abnormal macrophage morphology, Calf muscle pseudohypertro... ORPHA:353
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Timothy Syndrome
Pneumonia, Prolonged QT interval, Cardiomegaly, Bradycardia, Bronchitis, Patent foramen ovale, Pu... OMIM:601005
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Ascites OMIM:256150
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Purpura, Pulmonary embolism, Venous insufficiency ORPHA:745
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular fail... ORPHA:70589
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Unroofed coronary sinus, Pneumonia, Increased pulmonary vascular resistance, Supraven... ORPHA:99104
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... ORPHA:99050
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage... ORPHA:36382
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Respiratory tr... ORPHA:70587
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Catastrophic Antiphospholipid Syndrome
Myocarditis, Myocardial infarction, Abnormal jugular vein morphology, Angina pectoris, Retinal ar... ORPHA:464343
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... OMIM:620642
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Stuve-Wiedemann Syndrome 2
Camptodactyly, Congestive heart failure, Thrombocytopenia, Pulmonary arterial hypertension OMIM:619751
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pul... OMIM:230800
Primary Myelofibrosis
Abnormal megakaryocyte morphology, Abnormal bleeding, Hepatomegaly, Bone marrow hypercellularity,... ORPHA:824
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Venous insufficiency, Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Pu... ORPHA:743
Fetal Gaucher Disease
Hydrops fetalis, Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenom... ORPHA:85212
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pleural effusion, Hypotension, Leukocytosis, Pericarditis, Arrhythm... ORPHA:188
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, Anasa... OMIM:261740
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru... ORPHA:335
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Ventricular hypertrophy, Pulmonary arterial hypertension, Tetral... OMIM:300887
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fi... ORPHA:220402
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Gingi... ORPHA:169805
Acute Erythroid Leukemia
Bone marrow hypercellularity, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellula... ORPHA:318
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Stroke, Cardiomyopathy, Decreased muscle glycogen content, Left ventricu... OMIM:611556
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hypertension ORPHA:1164
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Pulmonary arterial hypertension, Arterial stenosis, Pulmon... ORPHA:228116
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar... ORPHA:1041
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Joint hemorrhage, Intracranial hemorrhage, Jo... ORPHA:98878
Factor Vii Deficiency
Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su... OMIM:227500
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Recurrent respiratory ... OMIM:614470
Severe Hemophilia A
Persistent bleeding after trauma, Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrha... ORPHA:169802
Hellp Syndrome
Prolonged prothrombin time, Pulmonary edema, Decreased mean corpuscular hemoglobin concentration,... ORPHA:244242
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... OMIM:273800
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Delayed o... ORPHA:331
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Leukemia, Myeloid... OMIM:614743
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Vascular calcification OMIM:231000
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Neonatal Lupus Erythematosus
Aplastic anemia, Abnormal bleeding, Heart block, Prolonged QT interval, Anemia, Hepatomegaly, Pan... ORPHA:398124
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar... ORPHA:71493
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Bone marrow hypercellularity, Anemia, Pancytopenia, Petechiae, Gingiv... ORPHA:520
Preeclampsia
Pulmonary edema, Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertensio... ORPHA:275555
Classic Multiminicore Myopathy
Congestive heart failure, Muscular dystrophy, Weakness of facial musculature, Generalized amyotro... ORPHA:324604
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Menorrhagia, Joint hemo... ORPHA:465
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Abnormal cere... ORPHA:363705
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Edema, Pul... ORPHA:624
Transaldolase Deficiency
Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Coarctation of aorta, Hepatosplenomegal... OMIM:606003
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Persistent left superior vena cava, ... OMIM:614954
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Capillary leak, Pleural effusion, Ascites, Hypovolemia, Enlarged polycystic ovar... ORPHA:64739
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Livedoid Vasculopathy
Ischemic stroke, Abnormal capillary morphology, Anemia, Venous insufficiency, Pancytopenia, Macul... ORPHA:542643
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Recurrent sinusitis, Splenomegaly, Br... OMIM:620282
High Altitude Pulmonary Edema
Tachycardia, Pulmonary edema, Leukocytosis ORPHA:330012
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling ORPHA:98880
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent sinusitis, Recurrent respir... ORPHA:85202
Acute Panmyelosis With Myelofibrosis
Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Increased micromegakaryocyte cou... ORPHA:86843
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura... OMIM:616050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Reticular pattern on pulmonary HRCT, Anemia, Pancytopenia, Bone marrow hypocellu... OMIM:614742
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Pleural... ORPHA:542323
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Recurrent respirator... OMIM:300635
Sengers Syndrome
Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, S... OMIM:212350
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Venous insufficiency... ORPHA:568051
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Bone Marrow Failure Syndrome 1
Aplastic anemia, Bone marrow hypocellularity, Pancytopenia OMIM:614675
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Pleuritis, Lymphedema, Neoplasm of the lung, Pulmonary arterial ... ORPHA:662
Fanconi-Like Syndrome
Multiple bilateral pneumothoraces, Recurrent lower respiratory tract infections, Pancytopenia OMIM:227850
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Pancytopenia, Portal hypertension, Bone marr... OMIM:617341
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Anemia, Limb hypertonia, Pancytopenia, Cardiomyopathy, Dehyd... OMIM:606054
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Pleural effusion, Obstruction of the sup... ORPHA:50251
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... ORPHA:3092
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial hypertension, Persistent le... OMIM:615067
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... ORPHA:853
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Megaloblastic bone marrow, Neutropenia ORPHA:859
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Petechiae, Abnormal mitral ... ORPHA:903
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Pulmonary arterial hypertension, Coarctation of aorta, Thrombocytopenia, Pat... OMIM:614857
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Stroke, Gingival bleeding, Cerebral ischemia, Hypotension, Angioe... ORPHA:449285
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Recurrent lower respiratory tract infections, Pancytopenia, Abnormally low T cell re... OMIM:618986
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Cardiomyopathy, Stroke-like episode, Orthostatic hypotension due to autonomic dy... OMIM:105210
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Myopathy, Varicose veins, Neutropenia, ... OMIM:612541
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary ... OMIM:265380
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Facial palsy, Bone marrow hypocellularity, Thromboc... OMIM:616435
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Polyhydramnios, Pancytopenia OMIM:616873
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Asci... ORPHA:98850
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Pulmonary arterial hypertension, Interlobular septal thi... OMIM:265120
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Lymphedema, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject... ORPHA:444013
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Umbilical hernia, Pericardial effusion, Congenital hypertrophy... OMIM:239850
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Cocaine Intoxication
Pneumothorax, Ischemic stroke, Pulmonary edema, Prolonged QT interval, Supraventricular arrhythmi... ORPHA:90068
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Coenzyme Q10 Deficiency, Primary, 2
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension OMIM:614651
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Pulmonary edema, Pneumonia, Anemia, Melena, Capillary leak, Petechiae, Hypertension,... ORPHA:340
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Arteriosclerosis, Pancytopenia, Stroke, Hypertension, Transie... OMIM:242900
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Cardio... ORPHA:137675
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Aspiration p... ORPHA:70588
Angioosteohypotrophic Syndrome
Edema, Venous malformation, Telangiectasia of the skin, Prominent superficial veins ORPHA:75508
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Pancytopenia, Pleural effusi... OMIM:613011
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial... OMIM:619051
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotensio... ORPHA:99147
Kagami-Ogata Syndrome
Polyhydramnios, Hepatomegaly, Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis... OMIM:608149
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Meckel Syndrome, Type 7
Situs inversus totalis, Portal hypertension, Aortic valve stenosis, Hepatosplenomegaly, Right ven... OMIM:267010
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Ascites, Recurrent pneumonia, Hepa... OMIM:615122
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Pulmonary arterial hypertension, Thrombocytopenia, Leukopenia, Type 2 muscl... OMIM:613845
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Cerebral hemorrhage, Bicuspid aortic valve OMIM:182410
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Vascular dilatation, Pulmonary arterial hypertension OMIM:613320
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Abn... ORPHA:97214
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Antisynthetase Syndrome
Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Myositis, Pulmonar... ORPHA:81
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Muscular ede... ORPHA:268
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal hypertens... ORPHA:79124
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pulmonary arterial h... OMIM:615343
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Anemia, Abnormal proportion of naive CD4 T cells, Stro... ORPHA:1830
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary artery atresia, Ascites, Pulmo... ORPHA:974
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Hepatomegal... ORPHA:809
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Congenital Tricuspid Stenosis
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... ORPHA:95459
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Hepatomegaly, Cardiomegaly, Generalized edema, Hepatosplenomegal... ORPHA:79330
Gaucher Disease, Type Iiic
Calcification of the aorta, Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenos... OMIM:231005
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexion contracture, Thrombocyt... OMIM:604416
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... ORPHA:774
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia... ORPHA:507
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Abnormal bleeding, Pancytopenia... ORPHA:77259
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Recurrent sinopulmonary infections, Splenomegaly, Pulmona... OMIM:618394
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Overlap Myositis
Abnormal pulmonary interstitial morphology, Proximal muscle weakness in upper limbs, Distal lower... ORPHA:206572
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Neoplasm of the lung, Acute lymph... ORPHA:158057
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Malaria
Thrombocytopenia, Anemia ORPHA:673
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Pancytopenia, Peau d'orange, Thrombocytopenia, Splenomegaly, Pat... OMIM:614576
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Abnormally loud pulmonic component of the second heart s... OMIM:615342
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Mucolipidosis Type Iii Alpha/Beta
Congestive heart failure, Aortic regurgitation, Diastasis recti, Flexion contracture, Right ventr... ORPHA:423461
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Hepatomegaly, Anemia, Pancytopenia, Vasculitis, Renal artery aneurysm, Hypertension, Str... OMIM:615688
Foxp1 Syndrome
Abnormal heart morphology, Flexion contracture, Pulmonary arterial hypertension, Recurrent upper ... ORPHA:391372
Mitochondrial Complex I Deficiency, Nuclear Type 37
Stroke-like episode, Skeletal muscle atrophy, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Asplenia... ORPHA:210122
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pulmona... OMIM:613989
Synaptic Congenital Myasthenic Syndromes
Recurrent lower respiratory tract infections, Scapular winging, Facial palsy, Pulmonary arterial ... ORPHA:98915
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Flexion contracture of toe, Cardiomegaly, Joint contracture o... OMIM:602782
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Scorpion Envenomation
Myocarditis, Congestive heart failure, Pulmonary edema, Purpura, Prominent U wave, Stroke, Hypert... ORPHA:466677
Congenital Tracheomalacia
Pneumothorax, Partial anomalous pulmonary venous return, Emphysema, Cardiomegaly, Single ventricl... ORPHA:95430
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Patent foramen ovale, Dehydration, Ventricular septal defect, Thrombocytopenia... OMIM:208085
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hydrops fetalis, Anemia, Hepatomegaly, Pancytopenia, ... ORPHA:77261
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena... ORPHA:464321
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Hypertension, Cerebral hem... ORPHA:280679
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab... ORPHA:35858
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, ... ORPHA:99827
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Megakaryocyte nucleus hypolobulation, Ly... OMIM:614172
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate... OMIM:612201
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Stroke, Per... OMIM:614022
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, ... OMIM:150550
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Pseudo-Torch Syndrome 2
Bradycardia, Petechiae, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral hemorr... OMIM:617397
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Ascites, Hypotension, Epistaxis, Cereb... ORPHA:99828
Griscelli Syndrome Type 2
Hepatomegaly, Hemophagocytosis, Pancytopenia, Petechiae, Splenomegaly, Neutropenia ORPHA:79477
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Hurler-Scheie Syndrome
Hepatomegaly, Aortic regurgitation, Pulmonary arterial hypertension, Camptodactyly of finger, The... OMIM:607015
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Braddock Syndrome
Congenital muscular torticollis, Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:52047
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia OMIM:617872
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Aregenerative Anemia
Abnormal bleeding, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Pancytopenia, Abno... ORPHA:101096
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye... ORPHA:70591
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Abnormal venous morphology, Varicose veins, Peda... ORPHA:79452
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Bicuspid aortic valv... OMIM:300855
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Anemia,... OMIM:613990
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Petechiae, Prolonged QTc interval ORPHA:231111
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Hypertensive crisis, Pulmonary arterial hypertension, Telangiectasia of... ORPHA:220393
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hypertension, Lower limb hype... ORPHA:2169
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Bone marrow hypocellularity, Lymphopenia, Abnormally low T cell receptor excision c... OMIM:619767
Wyburn-Mason Syndrome
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Polyhydramnios, Right ventricular hypertrophy, Ty... OMIM:612949
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per... OMIM:618775
Ethylene Glycol Poisoning
Congestive heart failure, Pulmonary edema, Prolonged QT interval, Atrial fibrillation, Hypertensi... ORPHA:31826
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion... ORPHA:292
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Hepatosplenomegaly, Pneumonia, Macroglossia ORPHA:309288
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... ORPHA:31825
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Cerebral vasculitis, Intracranial hemorrhage ORPHA:140989
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Congestive heart failure, B lymphocytopenia, Neutropenia in presence... ORPHA:391487
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Hepatomegaly, Cardiomegaly, Pulmonary arterial hypertension, Coarctat... OMIM:614921
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... OMIM:177850
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia ORPHA:251009
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Hemophagocytosis, Pancytopenia OMIM:619858
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Pleural effusion, Abnormal lymphatic vessel morphology, P... ORPHA:464329
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pancytopenia, Vasculitis, Hypertension, Raynaud phenomenon, Pneumoni... ORPHA:1855
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, ... ORPHA:36412
Cutis Laxa, Autosomal Recessive, Type Ic
Vascular dilatation, Emphysema, Atelectasis, Accessory spleen, Morgagni diaphragmatic hernia, Pat... OMIM:613177
Thymoma
Aplastic anemia, Myositis, Neoplasm of the lung, Obstruction of the superior vena cava, Pure red ... ORPHA:99867
Aicardi-Goutieres Syndrome 7
Hematemesis, Pneumonia, Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, Limb ... OMIM:615846
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus a... ORPHA:2519
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock ORPHA:49566
Beta-Thalassemia Intermedia
Hepatomegaly, Anemia of inadequate production, Leukocytosis, Pulmonary arterial hypertension, Per... ORPHA:231222
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Enlarged kidney, Atrial septal defect, Anemia, Patent foramen ovale, Tr... ORPHA:505248
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Systemic Sclerosis
Myocarditis, Nail bed telangiectasia, Abnormal pulmonary interstitial morphology, Vascular dilata... ORPHA:90291
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop... OMIM:613839
Lymphatic Malformation 13
Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertension, Nonimmune hydrops fet... OMIM:620244
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Abnormal bone marrow cell morphology, Pancytopenia, Leukocytosis, T... ORPHA:99812
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Aortic aneurysm, Multiple muscular ventricular septal defects, Pericardial effusi... OMIM:620070
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Pancytopenia, Aortic root aneurysm, Ventricular hypertrophy, Lymphopenia, Increased nucha... OMIM:620654
Proteus Syndrome
Splenomegaly, Venous malformation OMIM:176920
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Pulmonary artery atresia, Left ventricular hypertrophy, Secundum atrial sept... OMIM:108900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Facial edema OMIM:618398
Lig4 Syndrome
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Recurrent respiratory infections, T... OMIM:606593
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure, Arteriovenous malformation, Venous insufficiency ORPHA:137608
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Tempi Syndrome
Transudative pleural effusion, Ascites, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Anemia, Pancytopenia, Dehydration, Thrombocytopenia, Dilated cardiomyopathy, Neutro... OMIM:251110
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
X-Linked Intellectual Disability, Nascimento Type
Abnormal vena cava morphology, Patent foramen ovale, Pulmonary arterial hypertension, Oligohydram... ORPHA:163956
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Abnormal pulmonary interstitial morphology, Anemia, Pancytopenia, Bac... ORPHA:2072
Parkes Weber Syndrome
Spinal arteriovenous malformation, Abnormal bleeding, Arteriovenous malformation, Venous malforma... ORPHA:90307
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Recurrent lower respiratory tract infections, Thrombocytosis... OMIM:226300
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Pa... OMIM:618280
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Neonatal death, Cerebral hemorrhage, Left ventricular dilat... OMIM:620300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Lymphopenia, Budd-Chiari syndrome, Bo... OMIM:127550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Hydrops fetalis, Ascites OMIM:608776
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Cerebral edema, Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary ar...