Not currently registered for phenotyping at IMPC

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

Gene Summary

angiogenic factor with G patch and FHA domains 1
2010009L17Rik,  VG5Q,  2310029P06Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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 Aggf1 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 Aggf1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... ORPHA:90308

The table below shows human diseases predicted to be associated to Aggf1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue, Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary ... OMIM:234810
Familial Atrial Fibrillation
Exercise intolerance, Chest pain, Palpitations, Syncope, Fatigue, Atrial fibrillation, Myocardial... ORPHA:334
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Brain Small Vessel Disease 2
Subcortical heterotopia, Intracranial hemorrhage, Polymicrogyria OMIM:614483
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Periventricular Nodular Heterotopia 1
Stroke, Abnormality of neuronal migration, Cerebral hemorrhage, Gray matter heterotopia, Patent d... OMIM:300049
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Abnormal cerebral vascular morphology, Bruising susceptibility... ORPHA:3318
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Hemangioma, Pulmonary arterial hypertension, Fatigue, V... OMIM:263400
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Chest pain, Abnormal cardiovascular system physiology, Palpitations, Syn... ORPHA:422
Acquired Purpura Fulminans
Macular purpura, Shock, Neoplasm, Gangrene, Internal hemorrhage, Prolonged prothrombin time, Intr... ORPHA:49566
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Macrophagic Myofasciitis
Arthralgia, Myalgia, Fatigue ORPHA:592
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Stress ... ORPHA:136
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:94080
Congenital Heart Block
Atrioventricular block, Exercise intolerance, Second degree atrioventricular block, Third degree ... ORPHA:60041
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi... ORPHA:449285
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Mantle Cell Lymphoma
B-cell lymphoma, Fatigue ORPHA:52416
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Postexertional symp... ORPHA:1344
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Pontiac Fever
Myalgia, Fatigue ORPHA:99748
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Aspiration pneumonia OMIM:619477
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Exercise intolerance, Abnormal... ORPHA:2032
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Myalgia, Stroke, Spina bifida occulta, Arrh... ORPHA:230839
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Fatigue, Congestive heart failure OMIM:616794
Genetic Hyperferritinemia Without Iron Overload
Arthralgia, Fatigue ORPHA:254704
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Chest pain, Arterial stenosis, Cere... ORPHA:3287
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Bruising susceptibility, Recurrent respiratory infections, Fatigue, Intracranial ... ORPHA:3226
Recurrent lower respiratory tract infections, Hypotension, Fatigue, Patent ductus arteriosus OMIM:616000
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Abdominal pain, In... ORPHA:31825
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Abnormality of the pulmonary vasculature, Hemangio... ORPHA:284227
Spinal Arteriovenous Metameric Syndrome
Arteriovenous malformation, Cutaneous angiolipomas, Congestive heart failure, Spinal arteriovenou... ORPHA:53721
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Stroke, Constitutional symptom, Intracranial hemo... ORPHA:140989
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Exercise intolerance, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopat... ORPHA:1349
Erythrocytosis, Familial, 1
Fatigue, Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... ORPHA:465
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Abnormal bleeding, Chylothorax, Congestive heart failure, ... ORPHA:137667
Epistaxis, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Myalgia, Arrh... ORPHA:99745
Schnitzler Syndrome
Vasculitis, Lymphoma, Myalgia, Arthralgia, Fatigue, Bone pain ORPHA:37748
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Venous malformation, Lower limb pain, High-output congest... ORPHA:90307
Pneumonia, Ocular pain, Chest pain, Pleural effusion, Stroke, Hematological neoplasm, Hypersensit... ORPHA:1163
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre... OMIM:615396
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Refractory Anemia
Abnormal bleeding, Abnormal cardiac ventricular function, Fatigue, Single lineage myelodysplasia,... ORPHA:98826
Biliary tract neoplasm, Abdominal pain, Fatigue ORPHA:70567
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Fatigue OMIM:265400
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Adiposis Dolorosa
Painful subcutaneous lipomas, Arthralgia, Fatigue, Chronic pain OMIM:103200
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Exercise intolerance, Right ventricular failure, Bundle branch block, Transient ischem... ORPHA:99104
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Respiratory tract infection OMIM:616326
Hepatitis Delta
Abnormal bleeding, Bruising susceptibility, Malaise, Fatigue, Abdominal pain, Hepatocellular carc... ORPHA:402823
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Asthenia, Epigastric pain, Myalg... ORPHA:324636
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Visceral angiomatosis, R... ORPHA:774
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Fatigue, Myelodysplasia ORPHA:231401
Pseudo-Torch Syndrome 2
Polymicrogyria, Pleural effusion, Petechiae, Bradycardia, Cerebral hemorrhage, Gray matter hetero... OMIM:617397
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hemangioma ORPHA:398189
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... ORPHA:90308
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Abdominal pain,... ORPHA:563
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension, Fatigue ORPHA:526
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Fatigue ORPHA:2023
Neurocutaneous Melanocytosis
Neoplasm, Abnormality of neuronal migration, Melanoma, Meningocele, Intracranial hemorrhage ORPHA:2481
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Br... ORPHA:729
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Acquired Aneurysmal Subarachnoid Hemorrhage
Impairment of activities of daily living, Vasospasm, Congestive heart failure, Ischemic stroke, C... ORPHA:90065
Systemic Capillary Leak Syndrome
Hypotension, Myalgia, Pleural effusion, Pulmonary edema, Arrhythmia, Fatigue, Constitutional symp... ORPHA:188
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... OMIM:605714
Wiskott-Aldrich Syndrome
Gingival bleeding, Acute leukemia, Arrhythmia, Purpura, Vasculitis, Chest pain, Hematochezia, Spo... ORPHA:906
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:276621
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... ORPHA:280679
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Epiphyseal Dysplasia, Multiple, 2
Knee pain, Fatigue, Foot pain OMIM:600204
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Mitral regurgitation, Juv... OMIM:175050
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Sengers Syndrome
Exercise intolerance, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Fatigue, Card... OMIM:212350
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension, Secretory adrenocortical adenoma ORPHA:403
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Petechiae, Ecchymosis, Fatigue, Hepatocellular carcinoma OMIM:619463
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension, Secretory adrenocortical adenoma ORPHA:404
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Arthralgia, Fatigue, Abdominal pain ORPHA:90042
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Arteriovenous malformation, Colon cancer, Stomach cancer, Juvenile ga... ORPHA:2929
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Fatigue, Lymphoma, Breast carcinoma ORPHA:86893
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Evans Syndrome
Epistaxis, Bruising susceptibility, Petechiae, Syncope, Fatigue ORPHA:1959
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Retinal capillary hemangioma, Sinus tachycardia, Congestive heart... ORPHA:29072
Congestive heart failure, Myalgia, Arthralgia, Fatigue, Recurrent pharyngitis, Myocardial infarction ORPHA:108
Congenital Gerbode Defect
Elevated right atrial pressure, Right ventricular failure, Holosystolic murmur, Tricuspid regurgi... ORPHA:99095
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Chest pain, Cerebral ischemia, Arrhythmia, Fatigue, Atrial fibrillation... ORPHA:1880
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Chest pain, Arterial stenosis, Pulmona... ORPHA:228116
Nipah Virus Disease
Hypotension, Myalgia, Fatigue, Recurrent pharyngitis ORPHA:99825
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Prolonged PR ... ORPHA:99106
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171420
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Arteriovenous malformation, Lymphoma, Capillary hemangioma, Subcutaneous hemorr... ORPHA:109
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Chest pai... ORPHA:79126
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Renal artery stenosi... OMIM:171300
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Hellp Syndrome
Hypotension, Shoulder pain, Epigastric pain, Pleural effusion, Pulmonary edema, Fatigue, Internal... ORPHA:244242
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Multiple lipomas, Fatigue, Abdominal pain, Bone... ORPHA:1414
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Kaposi Sarcoma
Neoplasm of the skin, Venous insufficiency, Hemangioma, Fatigue, Neoplasm by anatomical site, Abn... ORPHA:33276
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Congestive hear... ORPHA:91139
Rhabdoid Tumor
Neoplasm of the liver, Internal hemorrhage, Renal neoplasm, Abdominal pain, Sarcoma, Hypertension... ORPHA:69077
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Petechiae, Ecchymosis, Hemangioma, Hematological neoplasm... ORPHA:824
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Kaposiform Lymphangiomatosis
Epistaxis, Exercise intolerance, Abnormal bleeding, Bruising susceptibility, Chest pain, Pleural ... ORPHA:464329
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Pulmonary carcinoid tumor, Aortic root aneurysm, Congestive heart failure,... ORPHA:363618
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Single lineage myelodysplasia, Acute myeloid leukemia, Fatigue, ... ORPHA:86839
Follicular Lymphoma
Night sweats, Fatigue, Pleural effusion, Lymphoma ORPHA:545
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Night sweats, Acute myeloid leukemia, Fatigue, Multiple lineage myelodysplasia ORPHA:98827
Hemochromatosis, Type 4
Arrhythmia, Arthralgia, Fatigue, Cardiomyopathy OMIM:606069
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Abdominal pain, Tachycardia, Shock, Palpitations, Pleural effusion, Myalgia, Ecc... ORPHA:340
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Neoplasm of the adrenal gland,... ORPHA:231625
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Myalgia, Mitral regurgitation, Neon... OMIM:620300
Congenital Glucokinase-Related Hyperinsulinism
Fatigue ORPHA:79299
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Monoclonal immunoglobulin ... ORPHA:33226
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Neonatal death ORPHA:85212
Autoinflammation With Infantile Enterocolitis
Myalgia, Diffuse alveolar hemorrhage, Arthralgia, Fatigue OMIM:616050
Hemochromatosis, Type 3
Fatigue, Purpura, Cardiomyopathy OMIM:604250
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue ORPHA:79283
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Hematological neoplasm, Arthralgia... ORPHA:98850
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stroke, Cerebral ischemia, Fatigue, Myelodysplasia ORPHA:927
Fixed Subaortic Stenosis
Aortic regurgitation, Postexertional symptom exacerbation, Congestive heart failure, Paroxysmal a... ORPHA:3092
Rheumatic Fever
Epistaxis, Chest pain, Abnormal pleura morphology, Arrhythmia, Arthralgia, Fatigue, Recurrent pha... ORPHA:3099
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Relapsing Fever
Epistaxis, Hypotension, Abnormal bleeding, Myalgia, Abdominal pain, Arthralgia, Fatigue, Prolonge... ORPHA:91547
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency, Gangrene, Purpura ORPHA:745
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Neuroendocrine neoplasm, Neoplasm of the larynx ORPHA:100083
Spontaneous Periodic Hypothermia
Arrhythmia, Fatigue ORPHA:29822
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small in... ORPHA:44890
Pulmonary Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemo... ORPHA:2038
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Chronic lymphatic leukemia, Arthralgia, Fatigue, Tachycardia, Lymphopro... ORPHA:90033
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Venous insuff... ORPHA:743
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Medial calc... OMIM:177850
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Cerebral vasculitis, Recurrent sinusitis, Subarachnoid hemorrhage, Squamous ... OMIM:243700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Fatigue ORPHA:276608
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Abn... ORPHA:183
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Chest pain, Pleuritis, Myalgia, Pulmonary arterial hypertension, Art... ORPHA:809
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Abdominal pain, Syncope, Fatigue, Tachycardia ORPHA:464453
Mirage Syndrome
Aspiration pneumonia, Petechiae, Intracranial hemorrhage, Myelodysplasia, Patent ductus arteriosus OMIM:617053
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Myalgia, Pleural effusion, Pulmonary ede... ORPHA:542323
Inhalational Anthrax
Hypotension, Fatigue, Internal hemorrhage ORPHA:247257
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Arthralgia, Fatigue, Lymphoma ORPHA:90036
Abdominal pain, Sarcoma, Fatigue, Varicose veins ORPHA:69078
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Hypertrophic cardiomyopathy, Myalgia, Fatigue, Heart murmur OMIM:615418
Hyperinsulinism Due To Insr Deficiency
Fatigue ORPHA:263458
Carney Triad
Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Arrhythmia, Leiomyosarcoma... ORPHA:139411
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Fatigue OMIM:619719
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Chest pain, Prolonged QRS complex, I... ORPHA:90068
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Arthralgia, Tachycardia, Abdominal pain, Purpura, Diffuse alveolar hemorrhage,... ORPHA:99827
Hypophosphatasia, Infantile
Intracranial hemorrhage, Recurrent respiratory infections, Stillbirth OMIM:241500
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Chest pain, Ischemic stroke, Pleural effusion, Telangiect... ORPHA:679
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myalgia, Cerebella... ORPHA:99901
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Subdural hemorrhage, Perisylvian polymicrogyria OMIM:618291
Legionnaires Disease
Hypotension, Chest pain, Abnormal pleura morphology, Myalgia, Arrhythmia, Arthralgia, Abdominal p... ORPHA:549
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Adenomatous colonic polyposis, Medulloblastoma, Back pain, Cerebellar hemorrhage, Neuroblastoma, ... ORPHA:616
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Mucolipidosis Type Iii
Fatigue ORPHA:577
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Neuroendocrine neoplasm, Palpitations, Facial telangiectasia, Chronic ... ORPHA:100085
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Myalgia, Subarachnoid... OMIM:185070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Exercise intolerance, Cardiomyopathy, Myalgia, Arrhythmia, Fatigue, Bradycardia OMIM:609286
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myalgia, Angina pec... ORPHA:93672
Hepatitis, Fulminant Viral, Susceptibility To
Gingival bleeding, Fatigue OMIM:618549
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Pulmonary venous hypertension, Respiratory tract infection, M... ORPHA:79128
Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Palpitations, Zollinger-Ellison syndro... ORPHA:97279
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Myalgia, Chronic lymphati... ORPHA:98849
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral re... ORPHA:75249
Classic Hodgkin Lymphoma
Lymphoma, Chest pain, Neoplasm, Fatigue, Bone pain ORPHA:391
Menkes Disease
Intracranial hemorrhage OMIM:309400
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Chest pain, Myalgia, Arthralgia, Fatigue, Myocarditis, ... ORPHA:3452
Eisenmenger Syndrome
Elevated jugular venous pressure, Patent ductus arteriosus, Right ventricular failure, Tricuspid ... ORPHA:97214
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Fatigue, Sudden cardiac death ORPHA:156
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent upper respiratory tract infections, Fatigue ORPHA:589905
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Fatigue, Congestive heart failure ORPHA:90037
Thymic Carcinoma
Neoplasm of the thymus, Chest pain, Abnormal vena cava morphology, Fatigue ORPHA:99868
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Chest pain, ... ORPHA:99094
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise intolerance, Postexertional symptom exacerbation, Hypertrophic cardiomyopathy, Fatigue, ... ORPHA:368
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Asthenia, Myalgia, Gangrene, Fatigue, Hemosiderin-laden macrophages ... OMIM:608710
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Fatigue, Pulmonary... ORPHA:133
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Neoplasm, Fatigue, Abdominal pa... ORPHA:2930
Postorgasmic Illness Syndrome
Palpitations, Hypertension, Fatigue ORPHA:279947
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Fatigue OMIM:615767
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Pulmonary fibrosis, Chest p... ORPHA:3260
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Encephalocele, Meningocele OMIM:614424
Vexas Syndrome
Arteritis, Night sweats, Arthralgia, Fatigue, Myelodysplasia OMIM:301054
Pfapa Syndrome
Abdominal pain, Arthralgia, Fatigue, Recurrent pharyngitis ORPHA:42642
Lyme Disease
Atrioventricular block, Myalgia, Arrhythmia, Arthralgia, Fatigue ORPHA:91546
Mast Cell Sarcoma
Sarcoma, Fatigue ORPHA:66661
Glycogen Storage Disease Ii
Exercise intolerance, Sinus tachycardia, Dilatation of the cerebral artery, Pleural effusion, Sho... OMIM:232300
Corticosteroid-Binding Globulin Deficiency
Asthenia, Hypotension, Fatigue, Hypertension OMIM:611489
Rheumatoid Arthritis
Vasculitis, Arthralgia, Fatigue OMIM:180300
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Ungual fibroma, Emphysema, Chest pain, Pul... ORPHA:538
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Arterial stenosis, Venous i... ORPHA:565
Propionic Acidemia
Cerebellar hemorrhage, Cardiomyopathy OMIM:606054
Barth Syndrome
Exercise intolerance, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:302060
Adiposis Dolorosa
Arthralgia, Telangiectasia of the skin, Fatigue, Bruising susceptibility ORPHA:36397
Mitochondrial Myopathy With Lactic Acidosis
Fatigue OMIM:251950
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Bruising suscept... ORPHA:85443
Cirrhotic Cardiomyopathy
Exercise intolerance, Abnormal bleeding, Postexertional symptom exacerbation, Congestive heart fa... ORPHA:57777
Acute Radiation Syndrome
Hypotension, Abnormal bleeding, Interstitial pneumonitis, Telangiectasia, Fatigue ORPHA:454831
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Fatigue, Melena, Oral cavity bleeding, Post-partum hemorrhage ORPHA:98870
Alexander Disease
Fatigue OMIM:203450
Avian Influenza
Pneumonia, Congestive heart failure, Chest pain, Myalgia, Pleural effusion, Pneumothorax, Fatigue... ORPHA:454836
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Arrhythmia, Elevated jugular venou... ORPHA:465508
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Chest pain, Cerebral ischemia, Pleuritis, Mya... ORPHA:900
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue OMIM:253601
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Fatigue, Exercise-induced myalgia ORPHA:42
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Cardiomyopathy ORPHA:1215
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise intolerance, Hypertrophic cardiomyopathy, Myalgia, Palpitations, Fatigue, Exercise-induc... OMIM:618250
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Transient ischemic attack, Retinal arterial occlusion, Ab... ORPHA:464343
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Dysgyria, Su... ORPHA:247245
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... ORPHA:79430
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Night sweats, Arthralgia, Abnormal bleeding, Fatigue ORPHA:507
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Chronic fatigue, Recurrent pneumonia, Myalgia, Exercise intolerance ORPHA:254875
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcutaneous hemorrh... ORPHA:394
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue ORPHA:314632
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Stroke, Right axis deviation, Pulmonary a... ORPHA:1478
Myofibrillar Myopathy 11
Coarctation of aorta, Fatigue OMIM:619178
Isolated Agammaglobulinemia
Pneumonia, Recurrent respiratory infections, Fatigue ORPHA:229717
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Exercise intolerance, Subependymal nodules, Subdural hemorrhage ORPHA:25
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Atelectasis, Polymicrogyria, Tricuspid regurgitation, Retinal arterial tortuosit... OMIM:620371
Adult-Onset Still Disease
Asthenia, Pharyngalgia, Myalgia, Interstitial pneumonitis, Arthralgia, Fatigue, Arthralgia/arthri... ORPHA:829
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, Pulmonary artery atresia,... ORPHA:99050
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Telangiectasia, Conjunctival tel... ORPHA:420741
Fatigue ORPHA:95713
Familial Cold Urticaria
Arthralgia, Abdominal pain, Myalgia, Fatigue ORPHA:47045
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue OMIM:614831
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Verrucae, Fatigue, Bronchiectasis ORPHA:33110
Post-Traumatic Pituitary Deficiency
Hypotension, Fatigue ORPHA:95619
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Dysgyria, C... OMIM:613834
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope, Flank pain... ORPHA:71273
Macs Syndrome
Bronchiectasis, Dilation of Virchow-Robin spaces, Bruising susceptibility, Umbilical hernia, Aort... OMIM:613075
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Left superior vena cava drain... ORPHA:185
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism, Bowel incontinence ORPHA:99015
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th... ORPHA:60025
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue OMIM:618049
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Chronic fatigue, Bone pain OMIM:610539
X-Linked Agammaglobulinemia
Abnormal lung morphology, Recurrent pneumonia, Neoplasm, Fatigue ORPHA:47
X-Linked Sideroblastic Anemia
Fatigue ORPHA:75563
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615343
Glucocorticoid Resistance, Generalized
Fatigue, Hypertension OMIM:615962
Q Fever
Pneumonia, Vasculitis, Abnormal vascular morphology, Myalgia, Pleural effusion, Night sweats, Fat... ORPHA:781
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Thyroid Hemiagenesis
Thyroid adenoma, Follicular thyroid carcinoma, Umbilical hernia, Medullary thyroid carcinoma, Fat... ORPHA:95719
Hypotonia-Cystinuria Syndrome
Fatigue ORPHA:163690
Immunodeficiency 70
Chronic fatigue, Verrucae, Recurrent sinusitis OMIM:618969
Congenital Isolated Acth Deficiency
Hypotension, Fatigue ORPHA:199296
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the rectum, Neoplasm of the liv... ORPHA:424016
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Atelectasis, Dilatation of the cerebral art... ORPHA:73263
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Exercise intolerance, Atelectasis, Hypertrophic cardiomyopathy, Dilatation of the cer... ORPHA:365
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue ORPHA:171612
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue, Bruising susceptibility ORPHA:98791
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Recurrent pneumonia, Right ve... ORPHA:1329
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Capillary hemangioma, Heart murmur, Intracranial hemorrhage, Patent duct... ORPHA:163979
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Fatigue, Bone pain ORPHA:324964
Poems Syndrome
Pleural effusion, Pain, Hemangioma, Pulmonary arterial hypertension, Fatigue, Lymphoproliferative... ORPHA:2905
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Exercise intolerance, Dilated cardiomyopathy, Coarctation of aorta,... OMIM:614921
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Pleural effusion, Respiratory tract infection, Fatigue, Abdominal pain, Hyper... ORPHA:567546
Cryptogenic Organizing Pneumonia
Chest pain, Night sweats, Arthralgia, Pneumothorax, Fatigue ORPHA:1302
Familial Cold Autoinflammatory Syndrome 1
Arthralgia, Myalgia, Fatigue, Chills OMIM:120100
Arachnoid Cyst
Sciatica, Neoplasm, Lower limb pain, Encephalocele, Subarachnoid hemorrhage, Urinary incontinence... ORPHA:2356
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Chronic fatigue, Arthralgia, Abdominal pain, Hepa... ORPHA:2137
Nelson Syndrome
Ocular pain, Pituitary carcinoma, Testicular neoplasm, Pituitary corticotropic cell adenoma, Intr... ORPHA:199244
Reynolds Syndrome
Myalgia, Telangiectasia of the skin, Fatigue, Mucosal telangiectasiae ORPHA:779
Abdominal pain, Arrhythmia, Fatigue ORPHA:1267
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Fatigue, Hepatocellular carcinoma ORPHA:65682
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Lung adenocarcinoma, Arrhythmia, Arthralgia, Vasculitis, Myalgia, Pulmonary arterial hypertension... ORPHA:221
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Abnormal bleeding, Neoplasm of the nervous system, Fatigue, Neuroblastoma, Hypertension, Bone pain ORPHA:635
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Neonatal death, Fatigue, Bradycardia OMIM:620351
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Bruising susceptibility, Tricuspid regurgitation, Mit... ORPHA:230851
Mal De Débarquement
Fatigue ORPHA:210272
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage, Neonatal death OMIM:311900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Polymicrogyria, Abnormality of neuronal migration, Arrhythmia, Antenatal ... OMIM:608836
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Lower limb pain, Mitral regurgitation, Sinus bradycardia, Fatigue OMIM:261990
Familial Cerebral Cavernous Malformation
Choroidal hemangioma, Neuroma, Meningioma, Venous malformation, Hemangioma, Cerebral hemorrhage ORPHA:221061
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Testicular adrenal rest tumor ORPHA:90795
Hypovolemic shock, Hypotension, Exercise intolerance, Impairment of activities of daily living, M... ORPHA:2912
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Overhydrated Hereditary Stomatocytosis
Fatigue, Pulmonary embolism OMIM:185000
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Exercise intolerance, Fatigue, Cardiomyopathy OMIM:617713
Iatrogenic Botulism
Fatigue, Orthostatic hypotension ORPHA:254509
Cinca Syndrome
Myalgia, Arthralgia, Purpura, Fatigue ORPHA:1451
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue, Hypertension OMIM:615954
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Chro... ORPHA:100078
Loeys-Dietz Syndrome 6
Spontaneous pneumothorax, Vertebral artery aneurysm, Bruising susceptibility, Arterial tortuosity... OMIM:619656
Postpoliomyelitis Syndrome
Arthralgia, Myalgia, Fatigue, Pain ORPHA:2942
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Patent ductus arteriosus OMIM:617061
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Shortened QT interval, Pancreatic adenocarcinoma, Bone pain, Thyroid carcinoma, ... ORPHA:99880
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Glioblastoma multiforme, Fatigue ORPHA:360
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Myalgia, Fatigue, Cardiomyopathy, Congestive heart failure OMIM:619259
Hennekam-Beemer Syndrome
Pneumonia, Hypotension, Arrhythmia, Telangiectasia of the skin, Fatigue, Abdominal pain ORPHA:2135
Congenital Sucrase-Isomaltase Deficiency
Abdominal pain, Fatigue, Abdominal colic, Bowel incontinence ORPHA:35122
Gaisböck Syndrome
Elevated diastolic blood pressure, Epigastric pain, Coronary artery atherosclerosis, Stroke, Angi... ORPHA:90041
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue OMIM:613157
Lead Poisoning
Impairment of activities of daily living, Fatigue, Reduced sperm motility, Abdominal pain, Abdomi... ORPHA:330015
Parathyroid Carcinoma
Renal hamartoma, Shortened QT interval, Parathyroid carcinoma, Pancreatic adenocarcinoma, Bone pa... ORPHA:143
Necrotizing Enterocolitis
Hypotension, Shock, Abdominal rigidity, Fatigue, Bradycardia ORPHA:391673
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormal pleura morphology, Fatigue, Abdominal pain, Recurrent respi... ORPHA:36426
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Chest pain, Syncope, Fatigue, Orthostatic hypotension ORPHA:230
Acute Adrenal Insufficiency
Hypotension, Recurrent acute respiratory tract infection, Stroke, Arthralgia, Fatigue, Orthostati... ORPHA:95409
Alveolar Echinococcosis
Pulmonary cyst, Budd-Chiari syndrome, Asthenia, Chest pain, Epigastric pain, Portal hypertension,... ORPHA:284
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Right ventricular failure, Abdominal colic, Lymphoma, Pleural effusion, Cons... ORPHA:90363
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Aspiration pneumonia, Arrhythmia, Rigors, F... ORPHA:94093
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Fatigue, Low pulse pressure ORPHA:86816
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Dilatation of the si... OMIM:613795
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Fatigue ORPHA:263455
Eosinophilic Fasciitis
Arthralgia, Myalgia, Fatigue ORPHA:3165
Neoplasm of the skin, Neurofibroma, Trigeminal neuralgia, Ear pain, Syncope, Spinal meningioma, N... ORPHA:2495
Hyperprolinemia Type 2
Abdominal pain, Exercise intolerance, Myalgia, Chronic fatigue ORPHA:79101
Selective Igm Deficiency
Recurrent upper respiratory tract infections, Verrucae, Bronchiectasis, Recurrent pneumonia, Thyr... ORPHA:331235
Fatigue, Portal hypertension ORPHA:213
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Neonatal death OMIM:619055
Primary Sjögren Syndrome
Vasculitis, Usual interstitial pneumonia, Arteritis, Bronchitis, Lymphoma, Chronic pain, Myalgia,... ORPHA:289390
Pneumonia, Hypovolemic shock, Asthenia, Fatigue, Myocarditis, Abdominal pain, Abdominal cramps, P... ORPHA:810
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Large vessel vasculitis, Pain, Low back pain, Flank pain, Fatigue, Abdomina... ORPHA:49041
Immunodeficiency 97 With Autoinflammation
Foam cells, Bronchiolitis obliterans organizing pneumonia, Fatigue, Recurrent sinopulmonary infec... OMIM:619802
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent bronchi... ORPHA:293978
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormal pleura morphology, Fatigue, Abdominal pain, Recurrent respi... ORPHA:537
Erdheim-Chester Disease
Congestive heart failure, Pleural effusion, Abdominal pain, Fatigue, Abnormal pulmonary interstit... ORPHA:35687
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Fatigue, Bradycardia ORPHA:70
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial rupture, Aortic aneurysm... ORPHA:536545
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Chest pain, Foam cells, Fatigue ORPHA:747
Generalized Pustular Psoriasis
Arthralgia, Fatigue, Pain, Congestive heart failure ORPHA:247353
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Recurrent respirato... ORPHA:99125
Fatigue ORPHA:251623
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Carotid artery occlusion, Atherosclerosis, Transient... ORPHA:740
Osteopetrosis, Autosomal Dominant 3
Asthenia, Fatigue OMIM:618107
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Stroke, Pulmonary arterial hyper... ORPHA:79282
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Exercise intolerance, Aortic root aneurysm, Aortic dis... ORPHA:666
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Fatigue OMIM:607426
Becker Muscular Dystrophy
Exercise intolerance, Myalgia, Fatigue ORPHA:98895
Late-Onset Isolated Acth Deficiency
Hypotension, Pituitary adenoma, Arthralgia, Fatigue, Orthostatic hypotension, Abdominal pain ORPHA:199299
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Exercise intolerance, Cardiomyopathy, Myalgia, Fatigue, Hepatocellular adenoma ORPHA:264580
Glycogen Storage Disease Ixa1
Fatigue OMIM:306000
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fatigue ORPHA:209335
Cold Agglutinin Disease
Arthralgia, Fatigue, Back pain ORPHA:56425
Pneumonia, Arteritis, Congestive heart failure, Myalgia, Stroke, Arthralgia, Fatigue, Myocarditis... ORPHA:533
Phace Syndrome
Aortic root aneurysm, Capillary hemangioma, Tetralogy of Fallot, Abnormal cerebral artery morphol... ORPHA:42775
Bone Marrow Failure Syndrome 6
Chronic fatigue, Myalgia, Recurrent sinusitis, Squamous cell carcinoma of the tongue OMIM:618849
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Hepatocellular carcinoma, Por... ORPHA:171
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Trigeminal neuralgia, Fatigue, Hypertension ORPHA:95613
Tuberous Sclerosis Complex
Pituitary adenoma, Cortical tubers, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Pulmon... ORPHA:805
Diffuse Alveolar Hemorrhage
Chest pain, Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Pulmonary venous h... ORPHA:90060
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchitis, Lymphom... ORPHA:183675
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Abdominal pain, Arthralgia... OMIM:226300
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue OMIM:274300
Pneumonia, Arteritis, Pulmonary granulomatosis, Bronchitis, Asthenia, Transient ischemic attack, ... ORPHA:1304
Papa Syndrome
Arthralgia, Fatigue ORPHA:69126
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Immunodeficiency 58
Recurrent upper respiratory tract infections, Verrucae, Recurrent pneumonia, Chronic bronchitis, ... OMIM:618131
Pediatric Hepatocellular Carcinoma
Abdominal pain, Epigastric pain, Fatigue ORPHA:33402
Xeroderma Pigmentosum
Neoplasm, Telangiectasia, Melanoma, Neoplasm of the eye, Telangiectasia of the skin, Conjunctival... ORPHA:910
Autosomal Dominant Optic Atrophy, Classic Form
Myalgia, Fatigue ORPHA:98673
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro... ORPHA:90324
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Arthralgia, Fatigue OMIM:615399
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Cyclic Neutropenia
Abdominal pain, Fatigue, Respiratory tract infection, Bone pain ORPHA:2686
Gitelman Syndrome
Hypotension, Palpitations, Arthralgia, Ventricular tachycardia, Fatigue, Prolonged QT interval, A... OMIM:263800
Kawasaki Disease
Vasculitis, Abnormal pulmonary interstitial morphology, Double outlet right ventricle with subpul... ORPHA:2331
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Low back pain, Fatigue ORPHA:86843
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue OMIM:191900
Gingival bleeding, Epistaxis, Abnormal bleeding, Shoulder pain, Myalgia, Petechiae, Arthralgia, F... ORPHA:324625
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Fatigue, Neoplasm of the tongue ORPHA:100026
Gaucher Disease Type 3
Pulmonary arterial hypertension, Fatigue, Abnormal pulmonary interstitial morphology, Recurrent r... ORPHA:77261
Houge-Janssens Syndrome 1
Fatigue OMIM:616355
Dubin-Johnson Syndrome
Abdominal pain, Fatigue ORPHA:234
Prolonged QT interval, Intracranial hemorrhage, Stroke-like episode, Pulmonary hypoplasia ORPHA:86309
Neck pain, Myalgia, Pain, Arthralgia, Fatigue, Abdominal pain ORPHA:74
Aregenerative Anemia
Fatigue, Abnormal bleeding, Bruising susceptibility ORPHA:101096
New-Onset Refractory Status Epilepticus
Fatigue ORPHA:363558
Autosomal Dominant Dopa-Responsive Dystonia
Fatigue, Hypertension ORPHA:98808
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Hypotension, Hypertrophic cardiomyopathy, Episodic abdominal pain, Chronic... ORPHA:361
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Pneumonia, Vasculitis, Vasospasm, Exudative pleural effusion, Chest pain, Cerebral ischemia, Myal... ORPHA:228123
Trichorhinophalangeal Syndrome, Type Ii
Multiple long-bone exostoses, Rib exostoses, Recurrent pneumonia, Recurrent upper respiratory tra... OMIM:150230
Acute Transverse Myelitis
Subarachnoid hemorrhage, Fatigue, Orthostatic hypotension, Urinary incontinence, Hypertension, Ba... ORPHA:139417
Myotonia Fluctuans
Myalgia, Fatigue ORPHA:99734
Arthralgia, Fatigue ORPHA:137817
Gastrointestinal hemorrhage, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Neop... ORPHA:97283
Cystic Echinococcosis
Pulmonary cyst, Epigastric pain, Abnormal subpleural morphology, Multiple pulmonary cysts, Fatigue ORPHA:400
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Fatigue, Prolonged prothrombin time, Cardiac arrest ORPHA:20
Autosomal Dominant Progressive External Ophthalmoplegia
Exercise intolerance, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpita... ORPHA:254892
Satoyoshi Syndrome
Fatigue OMIM:600705
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Encopresis, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Acute Monoblastic/Monocytic Leukemia
Fatigue, Acute monocytic leukemia ORPHA:514
Creatine Phosphokinase, Elevated Serum
Myalgia, Fatigue OMIM:123320
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis of the externa... OMIM:619472
Castleman Disease
Restrictive cardiomyopathy, Flank pain, Fatigue, Constitutional symptom, Abdominal pain ORPHA:160
Pneumonia, Ocular pain, Emphysema, Chest pain, Pleural effusion, Night sweats, Pneumothorax, Fati... ORPHA:31204
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Fatigue OMIM:613077
Chronic Myeloid Leukemia
Myeloproliferative disorder, Fatigue ORPHA:521
Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage, Abnormal internal carot... ORPHA:2177
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Kikuchi-Fujimoto Disease
Vasculitis, Myalgia, Pleural effusion, Night sweats, Arthralgia, Fatigue, Vasculitis in the skin,... ORPHA:50918
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage OMIM:613603
Sturge-Weber Syndrome
Pulmonary embolism, Abnormal cerebral vascular morphology, Capillary hemangioma, Conjunctival tel... ORPHA:3205
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Pleuritis, Respiratory tract infection, Fatigue, Myocarditis, Abd... ORPHA:544482
Familial Pancreatic Carcinoma
Colon cancer, Pancreatic adenocarcinoma, Chronic fatigue, Ovarian carcinoma, Melanoma, Neoplasm o... ORPHA:1333
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Exercise intolerance, Myalgia, Fatigue, Hepatocellular adenoma, Hepatocellular carcinoma ORPHA:79240
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Dilatation of the... OMIM:130050
Classical Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Dilatation ... ORPHA:287
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Melanoma, Aortic aneurysm, Intraventricular hemorrhage, Hemangioma, Spina bifida,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Melanoma, Aortic aneurysm, Intraventricular hemorrhage, Hemangioma, Spina bifida,... ORPHA:363958
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Bruising susceptibility, Arterial t... ORPHA:284984
Isolated Thyroid-Stimulating Hormone Deficiency
Umbilical hernia, Fatigue, Bradycardia ORPHA:90674
Herpes Simplex Virus Encephalitis
Fatigue, Chills ORPHA:1930
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Fatigue, Back pain, Umbilical hernia OMIM:619234
Atypical Juvenile Parkinsonism
Fatigue ORPHA:391411
Klatskin Tumor
Abdominal pain, Fatigue, Cholangiocarcinoma ORPHA:99978
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Spontaneous pneumothorax, Aortic root aneurysm, Aortic... ORPHA:558
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue ORPHA:352649
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Fatigue, Myelopathy OMIM:617186
Dehydrated Hereditary Stomatocytosis
Abdominal pain, Pulmonary venous hypertension, Episodic fatigue ORPHA:3202
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigue ORPHA:257
Tetrasomy 9P
Pulmonary hypoplasia, Polymicrogyria, Juxtaductal coarctation of the aorta, Umbilical hernia, Pil... ORPHA:3310
Non-Functioning Pituitary Adenoma
Hypotension, Fatigue ORPHA:91349
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Igg4-Related Kidney Disease
Arteritis, Interstitial pneumonitis, Abnormal aortic morphology, Abdominal pain, Lymphocytoma cut... ORPHA:449395
Goodpasture Syndrome
Reticular patte