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
Respiratory insufficiency, Hemangioma, Patent ductus arteriosus, Gastrointestinal hemorrhage, Abn... ORPHA:90308

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

Disease Similarity of
Matching phenotypes Source
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Chronic fatigue, Dec... OMIM:234810
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding, Stroke, Pulmonary embolism ORPHA:3325
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Neoplasm, Cerebral vasculitis, Asthma, Subarachnoid hemorrhage OMIM:243700
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Fatigue, Cough, Abnormal lung morphology ORPHA:3389
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Pontiac Fever
Myalgia, Fatigue, Cough ORPHA:99748
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Fatigue, Anomalous pulmo... ORPHA:99105
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:173470
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... ORPHA:331
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:273800
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Subdural hemorrhage, Joint hemorrhage,... ORPHA:169802
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Palpitations, Chest pain, Elevated jugular venous pressure, Pulmonary arterial hypertens... ORPHA:422
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia... ORPHA:36382
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Subdural hemorrhage, Joint hemor... ORPHA:169805
Brain Small Vessel Disease 2
Subcortical heterotopia, Intracranial hemorrhage, Polymicrogyria OMIM:614483
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Pain, Tachycardia, Cerebral is... ORPHA:449285
Hemophilia A
Intracranial hemorrhage, Joint hemorrhage, Spontaneous hematomas, Arthralgia, Bleeding with minor... ORPHA:98878
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Dilatation of the cerebral artery, Vasospasm, Abnormal ... ORPHA:284388
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding OMIM:227500
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Abdominal pain, Fatigue, Congestive heart failure OMIM:616794
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Aspiration pneumonia OMIM:619477
Polycythemia Vera
Hypertension, Myelodysplasia, Gingival bleeding, Acute leukemia, Budd-Chiari syndrome, Respirator... ORPHA:729
Sinusitis, Intracranial hemorrhage, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ple... ORPHA:1163
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Hem... ORPHA:284227
Macrophagic Myofasciitis
Arthralgia, Fatigue, Myalgia ORPHA:592
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Neoplasm, Gangrene, ... ORPHA:49566
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... ORPHA:99147
Congenital Factor X Deficiency
Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Prolonged prothrombin time, Joint hemorrh... ORPHA:328
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Hemangioma, Fatigue, Stroke, Hypotension OMIM:263400
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction, Exertional dyspnea, Fatigue OMIM:133100
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Paroxysmal dyspnea, Crackles, Exe... ORPHA:563
Mantle Cell Lymphoma
Fatigue, B-cell lymphoma ORPHA:52416
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Acute leukemia, Myeloproliferative disorder, Fatigue, Prolonged bleeding... ORPHA:3226
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pericarditis, Respiratory insufficiency, Exe... ORPHA:732
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Chest pain, Paraganglioma, Episodic abdominal pain, Fatigue, C... ORPHA:94080
Hodgkin Lymphoma
Neoplasm, Lymphoma, Cough, Fatigue, Dyspnea, Bone pain, Chest pain ORPHA:98293
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Fatigue, Respiratory insufficiency OMIM:616323
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... ORPHA:136
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional dyspnea, Fatigue,... OMIM:265400
Primary Familial Polycythemia
Epistaxis, Cough, Arthralgia, Exertional dyspnea, Fatigue, Abnormal bleeding, Dyspnea, Abdominal ... ORPHA:90042
Refractory Anemia
Abnormal cardiac ventricular function, Myelodysplasia, Fatigue, Single lineage myelodysplasia, Ab... ORPHA:98826
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... ORPHA:31825
Genetic Hyperferritinemia Without Iron Overload
Arthralgia, Fatigue ORPHA:254704
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Respiratory insufficiency, Petechiae, Bradycardia, Patent ductus arteriosus,... OMIM:617397
Epistaxis, Cough, Myalgia, Arthralgia, Gastrointestinal hemorrhage, Fatigue, Cardiac arrest, Abno... ORPHA:99745
Fatigue, Recurrent lower respiratory tract infections, Hypotension, Patent ductus arteriosus OMIM:616000
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Abnormal pattern of respiration, Hypertensive crisis, ... ORPHA:3287
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Primary Angiitis Of The Central Nervous System
Constitutional symptom, Intracranial hemorrhage, Cerebral vasculitis, Stroke, Transient ischemic ... ORPHA:140989
Acute Interstitial Pneumonia
Crackles, Fatigue, Respiratory failure, Reticulonodular pattern on pulmonary HRCT, Hypertension, ... ORPHA:79126
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Cavernous hemangioma, Visceral angiomatosis, Abnormal cerebral vascular morp... ORPHA:774
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Acute leukemia, Fatigue, Abnormal bleeding, Dyspnea, Bruising susceptibility ORPHA:231401
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... ORPHA:231160
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Classical-Like Ehlers-Danlos Syndrome Type 1
Myalgia, Arthralgia, Gastrointestinal hemorrhage, Fatigue, Stroke, Spina bifida occulta, Arrhythm... ORPHA:230839
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Multiple lipomas, Myalgia, Fat... ORPHA:1349
Systemic Capillary Leak Syndrome
Myocarditis, Constitutional symptom, Pericarditis, Multiple myeloma, Rhinorrhea, Cough, Myalgia, ... ORPHA:188
Dengue Fever
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Arthralgia, Gastrointestinal hemorr... ORPHA:99828
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Nipah Virus Disease
Cough, Myalgia, Respiratory distress, Fatigue, Recurrent pharyngitis, Hypotension ORPHA:99825
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Pneumonia, Palpit... ORPHA:99104
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Schnitzler Syndrome
Lymphoma, Myalgia, Arthralgia, Fatigue, Vasculitis, Bone pain ORPHA:37748
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Spinal Arteriovenous Metameric Syndrome
Visceral angiomatosis, Lymphangioma, Arthralgia, Gangrene, Fatigue, Congestive heart failure, Cut... ORPHA:53721
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Fixed Subaortic Stenosis
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Chest pain, Aortic regurgitat... ORPHA:3092
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Pain, Myalgia, Art... ORPHA:324636
Fatigue, Abdominal pain, Biliary tract neoplasm ORPHA:70567
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Focal Facial Dermal Dysplasia Type Iv
Hemangioma, Intracranial hemorrhage ORPHA:398189
Respiratory insufficiency, Cough, Myocardial infarction, Myalgia, Fatigue, Arthralgia, Congestive... ORPHA:108
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Fatigue, Vasculitis, Pulmonary... ORPHA:228116
Sengers Syndrome
Hypertrophic cardiomyopathy, Fatigue, Respiratory insufficiency OMIM:212350
Undifferentiated Pleomorphic Sarcoma
Fatigue, Soft tissue sarcoma ORPHA:2023
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Hemangioma, Patent ductus arteriosus, Gastrointestinal hemorrhage, Abn... ORPHA:90308
Familial Afibrinogenemia
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding ORPHA:98880
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Fatigue, ... ORPHA:99106
Wiskott-Aldrich Syndrome
Sinusitis, Petechiae, Chronic leukemia, Recurrent intrapulmonary hemorrhage, Fatigue, Vasculitis,... ORPHA:906
Adiposis Dolorosa
Arthralgia, Fatigue, Painful subcutaneous lipomas, Chronic pain OMIM:103200
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Neoplasm, Melanoma ORPHA:2481
Familial Hyperaldosteronism Type Ii
Hypertension, Epistaxis, Intracranial hemorrhage, Secretory adrenocortical adenoma ORPHA:404
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Fatigue, Reticular pattern ... ORPHA:99931
Liddle Syndrome
Hypertension, Fatigue, Arrhythmia, Cerebral ischemia ORPHA:526
Familial Hyperaldosteronism Type I
Hypertension, Epistaxis, Intracranial hemorrhage, Secretory adrenocortical adenoma ORPHA:403
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Chest pain, Aortic regurgitation, Restrictive c... ORPHA:75566
Autoimmune Hemolytic Anemia
Lymphoma, Fatigue, Congestive heart failure, Dyspnea, Arrhythmia, Abdominal pain ORPHA:98375
Evans Syndrome
Syncope, Petechiae, Epistaxis, Fatigue, Dyspnea, Bruising susceptibility ORPHA:1959
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Facial capillary hemangioma, Hemangioma, Epistaxis, Cerebral ischemia, High-outpu... ORPHA:137667
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Respiratory insufficiency, Patent ductus arteriosus, Cerebral ischemia, Fati... ORPHA:1880
Rhabdoid Tumor
Hypertension, Neoplasm of the central nervous system, Respiratory insufficiency, Neoplasm of the ... ORPHA:69077
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Pain, Cerebral ischemia, Stroke, Vasculiti... ORPHA:494424
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Chest... ORPHA:276621
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening, Elevated jugular venous pressure, Pul... OMIM:265450
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Night sweats, Arthral... ORPHA:1302
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatocellular carcinoma, Petechiae, Epistaxis, Fatigue, Portal hypertension OMIM:619463
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Exertional dyspnea, Neuroendocrine neoplasm, Neoplasm of the larynx ORPHA:100083
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Moyamoya phenomenon, Cerebral hemorrhage, Ischemic stroke ORPHA:280679
Acute Promyelocytic Leukemia
Ecchymosis, Productive cough, Gingival bleeding, Petechiae, Epistaxis, Abnormal bleeding, Exertio... ORPHA:520
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Pheochromocyto... OMIM:171420
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigue, Apnea, Respiratory insufficiency OMIM:617239
Hemorrhagic Fever-Renal Syndrome
Chills, Petechiae, Melena, Fatigue, Pulmonary edema, Respiratory failure, Abdominal pain, Capilla... ORPHA:340
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Breast carcinoma, Fatigue, B-cell lymphoma, Lymphoma ORPHA:86893
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Cough, Melena, Muscle ... ORPHA:464321
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Systolic hea... ORPHA:99095
Acquired Methemoglobinemia
Syncope, Hypoxemia, Palpitations, Tachycardia, Respiratory distress, Fatigue, Dyspnea, Abdominal ... ORPHA:464453
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morp... OMIM:300845
Lymphoid Interstitial Pneumonia
Wheezing, Subpleural interstitial thickening, Hypoxemia, Crackles, Bronchiectasis, Cough, Raynaud... ORPHA:79128
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Pulmonary arteriovenous malformation, Exertional dyspne... OMIM:187300
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Subconjunctival hemorrhage, Lymphangioma, Epistaxis, Cough, Abno... ORPHA:464329
Follicular Lymphoma
Fatigue, Pleural effusion, Lymphoma, Night sweats ORPHA:545
Menkes Disease
Intracranial hemorrhage OMIM:309400
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Rheumatic Fever
Myocarditis, Sinusitis, Pericarditis, Respiratory insufficiency, Epistaxis, Arthralgia, Fatigue, ... ORPHA:3099
Polycythemia Vera
Cerebral hemorrhage, Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome OMIM:263300
Refractory Anemia With Excess Blasts
Palpitations, Multiple lineage myelodysplasia, Acute myeloid leukemia, Fatigue, Single lineage my... ORPHA:86839
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Retinal capillary h... ORPHA:29072
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Juvenile Polyposis Syndrome
Visceral angiomatosis, Hemangioblastoma, Spontaneous, recurrent epistaxis, Neoplasm of the small ... ORPHA:2929
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Lymphoproliferative disorder, Tachycardia, Arthralgia, Exertional dys... ORPHA:90033
Spontaneous Periodic Hypothermia
Fatigue, Arrhythmia, Abnormal pattern of respiration ORPHA:29822
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Abnormal cerebral vascular morphology, Subarac... ORPHA:53719
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Fatigue ORPHA:228312
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Simple Cryoglobulinemia
Hypertension, Chronic lymphatic leukemia, Pericarditis, Multiple myeloma, Monoclonal immunoglobul... ORPHA:91139
Pulmonary Arteriovenous Malformation
Telangiectasia, Hypoxemia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Pulmonary he... ORPHA:2038
Respiratory insufficiency, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Cough, S... ORPHA:98292
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Back pain, Fatigue, Pulmonary edema, Epigastric ... ORPHA:244242
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fatigue, Congestive heart failure, Arrhythmia OMIM:302060
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Respiratory insufficiency, Cou... ORPHA:183
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... OMIM:605714
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Lymphoma, Arthralgia, Exertional dyspnea, Fatigue ORPHA:90036
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pulmonary capillary hemangiomatosis, Interlobular septal th... ORPHA:199241
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypertension, Paroxysmal dyspnea, Pneumothorax, Aortic regurgitation, Dilatation of the cerebral ... ORPHA:91387
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Melena, Pulmonary arteriovenous malformation, Transient ischemi... OMIM:600376
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Reduced ejection fraction, Tachypnea, Tachycardia, Heart block, Myalgia, Fatigue, Pulm... ORPHA:542323
Cocaine Intoxication
Wheezing, Ventricular arrhythmia, Pulmonary edema, Diffuse alveolar hemorrhage, Hyperventilation,... ORPHA:90068
Dural Sinus Malformation
Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhage, Ear pain, Stroke, Subarachnoid... ORPHA:97339
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Palpitatio... ORPHA:231625
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Fatigue, Portal hypertension, Abdominal pain, Bone pain, Multiple li... ORPHA:1414
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Pulmonary arterial hypertensio... ORPHA:70591
Inhalational Anthrax
Respiratory distress, Fatigue, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Waldenström Macroglobulinemia
Gingival bleeding, Respiratory insufficiency, Leukemia, Monoclonal immunoglobulin M proteinemia, ... ORPHA:33226
Hemochromatosis, Type 4
Arthralgia, Fatigue, Arrhythmia, Cardiomyopathy OMIM:606069
Familial Colorectal Cancer Type X
Neuroblastoma, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Glioblastoma mul... ORPHA:440437
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Tricuspid regurgitation, Abnormal at... ORPHA:439
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Wheezing, Crackles, Systolic hea... ORPHA:1329
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Intracranial hemorrhage, Thyroid carcinoma, Meningioma, Neoplasm of the breast, N... ORPHA:109
Classic Hodgkin Lymphoma
Respiratory insufficiency, Neoplasm, Lymphoma, Cough, Fatigue, Bone pain, Chest pain ORPHA:391
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Juvenile gastrointestinal polyposis, Mitral regurgitation, Gastrointestinal carci... OMIM:175050
Episodic hypertension, Cerebral hemorrhage, Hemangioma, Tachycardia, Neoplasm, Congestive heart f... OMIM:171300
Hyperinsulinism Due To Glucokinase Deficiency
Fatigue ORPHA:79299
Relapsing Fever
Chills, Prolonged prothrombin time, Epistaxis, Tachycardia, Cough, Myalgia, Arthralgia, Fatigue, ... ORPHA:91547
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Myelodysplasia, Cerebral ischemia, Respiratory distress, Fatigue, Stroke ORPHA:927
Familial Hyperaldosteronism Type Iii
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Lynch Syndrome
Ovarian neoplasm, Neuroblastoma, Neoplasm of the rectum, Hepatocellular carcinoma, Glioblastoma m... ORPHA:144
Legionnaires Disease
Myocarditis, Restrictive ventilatory defect, Pericarditis, Respiratory insufficiency, Chest pain,... ORPHA:549
Primary Myelofibrosis
Constitutional symptom, Ecchymosis, Petechiae, Hemangioma, Flank pain, Fatigue, Purpura, Hematolo... ORPHA:824
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Night sweats, Multiple lineage myelodysplasia, Acute myeloid leukemia, Fatigue ORPHA:98827
Fetal Gaucher Disease
Neonatal death, Intracranial hemorrhage, Stillbirth ORPHA:85212
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue ORPHA:79283
Granulomatosis With Polyangiitis
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... OMIM:608710
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Basal cell carcinoma, Squamous cell ... ORPHA:363618
Malignant Atrophic Papulosis
Telangiectasia of the skin, Myocardial infarction, Respiratory failure, Gastrointestinal hemorrha... ORPHA:679
Mixed Connective Tissue Disease
Myocarditis, Pericarditis, Pulmonary arterial hypertension, Pleuritis, Myalgia, Arthralgia, Gastr... ORPHA:809
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Gangrene, Purpura, Pulmonary embolism, Abnormal cerebral vascular morphology ORPHA:745
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Second degree ... ORPHA:369929
Hemochromatosis, Type 3
Fatigue, Purpura, Cardiomyopathy OMIM:604250
Hypophosphatasia, Infantile
Recurrent respiratory infections, Intracranial hemorrhage, Apnea, Stillbirth OMIM:241500
Glucocorticoid Resistance, Generalized
Hypertension, Fatigue OMIM:615962
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Myalgia, Respiratory dist... ORPHA:454836
Aggressive Systemic Mastocytosis
Constitutional symptom, Abdominal cramps, Leukemia, Arthralgia, Gastrointestinal hemorrhage, Fati... ORPHA:98850
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Exertional dyspnea, Fatigue, Tachycardia ORPHA:90037
Juvenile Dermatomyositis
Restrictive ventilatory defect, Pericarditis, Telangiectasia of the skin, Cardiomyopathy, Bundle ... ORPHA:93672
Autoinflammation With Infantile Enterocolitis
Myalgia, Diffuse alveolar hemorrhage, Fatigue, Arthralgia OMIM:616050
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Gangrene, Purpura, Pulmonary embolism, Abnormal cerebral vascular morpho... ORPHA:743
Thymic Carcinoma
Neoplasm of the thymus, Cough, Fatigue, Dyspnea, Chest pain ORPHA:99868
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Tachypnea, Elevated jugula... ORPHA:2041
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neoplasm of the g... ORPHA:44890
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Myalgia, Fatigue, Dyspnea, Heart murmur OMIM:615418
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Myalgia, Chronic fat... ORPHA:254875
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Facial telangiectasia, Neuroendocrine neoplasm, Neoplasm of the lung, ... ORPHA:100085
Crimean-Congo Hemorrhagic Fever
Myocarditis, Chills, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left vent... ORPHA:99827
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue, Tachycardia ORPHA:276608
Myocarditis, Lung adenocarcinoma, Fatigue, Vasculitis, Recurrent respiratory infections, Pericard... ORPHA:221
Kaposi Sarcoma
Neoplasm of the skin, Lymphoproliferative disorder, Hemangioma, Fatigue, Abnormal lung morphology... ORPHA:33276
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the lung, Genital neoplasm, Neoplasia of the pleura, Soft tissue neoplasm, Neoplasm, ... ORPHA:2126
Vascular Hyalinosis
Subarachnoid hemorrhage, Hematochezia OMIM:277175
Whipple Disease
Myocarditis, Pericarditis, Respiratory insufficiency, Pleuritis, Cough, Myocardial infarction, My... ORPHA:3452
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Pleural thickening, Exertional dyspnea, Fatigue, Restrictive ventilato... ORPHA:60025
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Adult-Onset Still Disease
Myocarditis, Restrictive ventilatory defect, Pericarditis, Pleuritis, Myalgia, Arthralgia, Fatigu... ORPHA:829
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Intracranial hemorrhage, Myelodysplasia, Vasculitis in the skin, Raynaud ... ORPHA:3260
Carney Triad
Hypertension, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Tachycardi... ORPHA:139411
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Postexertional malaise, Arrhythmia, Ventricu... ORPHA:90647
Parkes Weber Syndrome
Pain, Back pain, Neck pain, High-output congestive heart failure, Hemangiomatosis, Bounding pulse... ORPHA:90307
Mirage Syndrome
Intracranial hemorrhage, Myelodysplasia, Petechiae, Patent ductus arteriosus, Aspiration pneumonia OMIM:617053
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Exercise-induced myalgia, Tachycardia, Exertional dyspnea, Postexert... ORPHA:368
Hyperinsulinism Due To Insr Deficiency
Fatigue ORPHA:263458
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Apnea, Respiratory insufficiency OMIM:618886
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arrhythmia, Patent... ORPHA:97214
Combined Oxidative Phosphorylation Deficiency 33
Fatigue, Cardiomyopathy OMIM:617713
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Corticosteroid-Binding Globulin Deficiency
Hypertension, Fatigue, Hypotension OMIM:611489
Neuroblastoma, Neoplasm of the lung, Adenomatous colonic polyposis, Back pain, Spinal cord tumor,... ORPHA:616
Giant Cell Arteritis
Pericarditis, Epistaxis, Cough, Cerebral ischemia, Recurrent pharyngitis, Myalgia, Arthralgia, Fa... ORPHA:397
Cardiogenic Shock
Right ventricular failure, Hypoxemia, Crackles, Mitral regurgitation, Low pulse pressure, Elevate... ORPHA:97292
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Myalgia, Congest... ORPHA:99901
Atelectasis, Pneumothorax, Chylothorax, Cough, Pulmonary lymphangiomyomatosis, Gastrointestinal h... ORPHA:538
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Chronic lymphatic leukemia, Myelodysplasia, Multiple myeloma, Chronic myelomonocytic leu... ORPHA:98849
Granulomatosis With Polyangiitis
Sinusitis, Pleuritis, Recurrent intrapulmonary hemorrhage, Cerebral ischemia, Gastrointestinal he... ORPHA:900
X-Linked Sideroblastic Anemia
Dyspnea, Fatigue ORPHA:75563
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue, Gingival bleeding OMIM:618549
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Postpoliomyelitis Syndrome
Respiratory insufficiency, Pain, Arthralgia, Myalgia, Fatigue, Hypoventilation ORPHA:2942
Mucolipidosis Type Iii
Fatigue ORPHA:577
Myofibrillar Myopathy 10
Myalgia, Increased QRS voltage, Postexertional malaise, Prolonged QTc interval OMIM:619040
Aortic Arch Interruption
Shock, Hypertension, Truncus arteriosus, Systolic heart murmur, Tachypnea, Aortic regurgitation, ... ORPHA:2299
Thyroid Hemiagenesis
Fatigue, Umbilical hernia ORPHA:95719
Idiopathic Pulmonary Arterial Hypertension
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... ORPHA:275766
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Fatigue, Arrhythmia, Sudden cardiac death ORPHA:156
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Palpitations, Fatigue, Zollinger-Ellison ... ORPHA:97279
Lyme Disease
Atrioventricular block, Myalgia, Arthralgia, Fatigue, Arrhythmia ORPHA:91546
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Obstructive sleep apnea, Gastrointestinal hemorrhag... ORPHA:85443
Postorgasmic Illness Syndrome
Palpitations, Hypertension, Fatigue ORPHA:279947
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Postexertional malaise, Hepatocellular carcinoma ORPHA:369
Propionic Acidemia
Tachypnea, Apnea, Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Riddle Syndrome
Telangiectasia, Pneumonia, Conjunctival telangiectasia, Chronic sinusitis, Respiratory failure, A... ORPHA:420741
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Telangiectasia, Hypertension, Pulmonary artery vasoconstriction, Pulmo... OMIM:178600
Mast Cell Sarcoma
Sarcoma, Fatigue ORPHA:66661
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Myalgia, Fatigue, Arrhythmia OMIM:609286
Congenital Fibrinogen Deficiency
Gingival bleeding, Prolonged prothrombin time, Tachycardia, Subcutaneous hemorrhage, Abnormal ble... ORPHA:335
Vexas Syndrome
Myelodysplasia, Night sweats, Arthralgia, Fatigue, Arteritis OMIM:301054
Cronkhite-Canada Syndrome
Stomach cancer, Gastrointestinal carcinoma, Neoplasm, Fatigue, Intestinal polyposis, Hamartomatou... ORPHA:2930
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Verrucae, Cough, Fatigue, Recurrent respiratory infections ORPHA:33110
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Immunodeficiency, Common Variable, 11
Fatigue, Recurrent respiratory infections OMIM:615767
Rheumatoid Arthritis
Arthralgia, Fatigue, Vasculitis OMIM:180300
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Cardiomyopathy, A... ORPHA:465508
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Laubry-Pezzi Syndrome
Mildly reduced ejection fraction, Palpitations, Aortic regurgitation, Patent ductus arteriosus, E... ORPHA:99094
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue OMIM:253601
Pfapa Syndrome
Arthralgia, Fatigue, Abdominal pain, Recurrent pharyngitis ORPHA:42642
Myopathy, Centronuclear, 4
Myalgia, Fatigue OMIM:614807
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced myalgia, Exertional dyspnea, Fatigue, Arrhythmia ORPHA:42
Rhinitis, Night sweats, Arthralgia, Fatigue, Abnormal bleeding ORPHA:507
Hermansky-Pudlak Syndrome
Epistaxis, Basal cell carcinoma, Cardiomyopathy, Squamous cell carcinoma of the skin, Gastrointes... ORPHA:79430
Isolated Agammaglobulinemia
Sinusitis, Fatigue, Recurrent respiratory infections, Pneumonia ORPHA:229717
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris OMIM:177850
Hypertension, Fatigue, Abdominal pain, Chest pain ORPHA:738
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Cough, Pulmonary venous hypertension, I... ORPHA:90060
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue OMIM:613157
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Abnormality of neuronal migration, Antenatal intracerebral hemorrhage, Re... OMIM:608836
Poems Syndrome
Lymphoproliferative disorder, Hemangioma, Respiratory insufficiency due to muscle weakness, Pain,... ORPHA:2905
Abdominal pain, Fatigue, Arrhythmia, Respiratory insufficiency ORPHA:1267
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Chest pain, Cough, Fatigue, Decreased DLCO, Restrictiv... ORPHA:747
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Adiposis Dolorosa
Arthralgia, Fatigue, Telangiectasia of the skin, Bruising susceptibility ORPHA:36397
Sarcoma, Fatigue, Abdominal pain ORPHA:69078
Tropical Endomyocardial Fibrosis
Fatigue, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decrease... ORPHA:75565
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Post-partum hemorrhage, Melena, Fatigue, Oral cavity bleeding ORPHA:98870
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Iatrogenic Botulism
Orthostatic hypotension, Dyspnea, Fatigue ORPHA:254509
Reynolds Syndrome
Respiratory insufficiency, Telangiectasia of the skin, Myalgia, Fatigue, Mucosal telangiectasiae ORPHA:779
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Cardiomyopathy ORPHA:1215
X-Linked Agammaglobulinemia
Sinusitis, Neoplasm, Fatigue, Recurrent pneumonia, Abnormal lung morphology ORPHA:47
Spastic Paraplegia Type 2
Bowel incontinence, Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Myofibrillar Myopathy 11
Fatigue, Reduced forced vital capacity OMIM:619178
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Classic Homocystinuria
Hypertension, Intracranial hemorrhage, Cerebral ischemia, Subcutaneous hemorrhage, Gastrointestin... ORPHA:394
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Chronic pain, Respiratory insufficiency, Atelectasis, Respiratory in... ORPHA:365
Mitochondrial Myopathy With Lactic Acidosis
Fatigue OMIM:251950
Q Fever
Myocarditis, Pericarditis, Pneumonia, Cough, Night sweats, Myalgia, Respiratory distress, Fatigue... ORPHA:781
Menkes Disease
Intracranial hemorrhage, Exostoses, Spontaneous hematomas, Gastrointestinal hemorrhage, Fatigue, ... ORPHA:565
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Respiratory insufficiency, Capillary hemangioma, Patent ductus arteriosu... ORPHA:163979
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue ORPHA:314632
Fatigue ORPHA:95713
Familial Cold Urticaria
Arthralgia, Fatigue, Myalgia, Abdominal pain ORPHA:47045
Immunodeficiency 70
Chronic fatigue, Verrucae, Recurrent sinusitis OMIM:618969
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Chronic pulmonary obstruction, Respiratory insufficien... ORPHA:324
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea, Interlobular sep... OMIM:265120
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Fatigue, Respiratory tract infection, Pulmonary embolism, Dyspnea, Pleural effusion... ORPHA:567546
Hypertension, Hypovolemic shock, Pain, Myalgia, Arthralgia, Fatigue, Respiratory failure, Impairm... ORPHA:2912
Acys Amyloidosis
Cerebral hemorrhage, Stroke ORPHA:100008
Catastrophic Antiphospholipid Syndrome
Myocarditis, Pulmonary arterial hypertension, Arterial occlusion, Myocardial infarction, Arthralg... ORPHA:464343
Familial Cold Autoinflammatory Syndrome 1
Arthralgia, Fatigue, Myalgia, Chills OMIM:120100
Paroxysmal Nocturnal Hemoglobinuria 2
Arthralgia, Dyspnea, Fatigue, Abdominal pain OMIM:615399
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Orthostatic syncope, Rhinitis, Fatigue, Abnormal EKG, Dyspnea, ... ORPHA:230
Post-Traumatic Pituitary Deficiency
Fatigue, Hypotension ORPHA:95619
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Chronic fatigue, Bone pain OMIM:610539
Adenocarcinoma Of The Anal Canal
Neoplasm of the lung, Neoplasm of the rectum, Neoplasm of the liver, Chronic fatigue, Intestinal ... ORPHA:424016
Hypotonia-Cystinuria Syndrome
Fatigue ORPHA:163690
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Myocarditis, Sinusitis, Pericarditis, Atelectasis, Pneumothorax, Dilatation of the cerebral arter... ORPHA:73263
Stevens-Johnson Syndrome
Restrictive ventilatory defect, Cough, Myocardial infarction, Gastrointestinal hemorrhage, Fatigu... ORPHA:36426
Alveolar Echinococcosis
Portal hypertension, Budd-Chiari syndrome, Cough, Fatigue, Asthenia, Pulmonary cyst, Dyspnea, Epi... ORPHA:284
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Vasculitis, Bone pain ORPHA:324964
Nelson Syndrome
Hypertension, Intracranial hemorrhage, Pituitary carcinoma, Ocular pain, Pituitary corticotropic ... ORPHA:199244
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue, Bruising susceptibility ORPHA:98791
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Dopa-Responsive Dystonia
Urinary incontinence, Fatigue, Pain ORPHA:255
Superficial Siderosis
Neoplasm of the central nervous system, Back pain, Dysgyria, Abnormal bleeding, Internal hemorrha... ORPHA:247245
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue OMIM:614831
Behçet Disease
Pericarditis, Mitral regurgitation, Aortic regurgitation, Pleuritis, Cerebral ischemia, Myocardia... ORPHA:117
Benign Recurrent Intrahepatic Cholestasis
Fatigue, Abdominal pain, Hepatocellular carcinoma ORPHA:65682
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Mitral regurgitation, Snoring, Tricuspid regurgitation, Fatigue, Lower limb pain OMIM:261990
Congenital Isolated Acth Deficiency
Fatigue, Hypotension ORPHA:199296
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia, Telangiectasia of the skin, Fatigue, Arrhythmia, Abdominal ... ORPHA:2135
Arachnoid Cyst
Sciatica, Neoplasm, Back pain, Urinary incontinence, Subarachnoid hemorrhage, Lower limb pain, Ab... ORPHA:2356
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Arterial ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Arterial ... ORPHA:100077
Autoimmune Hepatitis
Spider hemangioma, Hepatocellular carcinoma, Arthralgia, Chronic fatigue, Gastrointestinal hemorr... ORPHA:2137
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue ORPHA:171612
Cerebral hemorrhage, Syncope, Neoplasm of the skin, Neoplasm of the tongue, Neoplasm of the anter... ORPHA:2495
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Prolonged prothrombin time, Pulmonary arterial hypertension, Aborted sudd... OMIM:614921
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Telangiectasia of... ORPHA:3342
Myotonia Fluctuans
Myalgia, Fatigue, Apnea, Stridor ORPHA:99734
Amyotrophic Lateral Sclerosis
Abnormal respiratory system physiology, Pain, Fatigue, Respiratory failure, Dyspnea ORPHA:803
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Fatigue OMIM:615954
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Testicular adrenal rest tumor, Intracranial hemorrhage ORPHA:90795
Cinca Syndrome
Myalgia, Fatigue, Arthralgia, Purpura ORPHA:1451
Multiple Epiphyseal Dysplasia Type 1
Postexertional malaise, Ankle pain, Knee pain ORPHA:93308
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Fat... ORPHA:230851
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Fatigue OMIM:607426
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Cough, Respiratory distress, Gastrointestinal hemorrhage, Fatigue... ORPHA:537
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Bronchiectasis, Recurrent bronchitis, Fatigue, Recurrent upper respiratory tract infections, Recu... ORPHA:293978
Immunodeficiency 58
Chronic bronchitis, Allergic rhinitis, Chronic pulmonary obstruction, Bronchiectasis, Verrucae, F... OMIM:618131
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Bronchiectasis, Chronic sinusitis, Recurrent lower respiratory trac... ORPHA:183675
Mal De Débarquement
Fatigue ORPHA:210272
Erdheim-Chester Disease
Cough, Fatigue, Abnormal pulmonary interstitial morphology, Congestive heart failure, Pulmonary f... ORPHA:35687
Hepatocellular Carcinoma
Constitutional symptom, Bone pain, Budd-Chiari syndrome, Neoplasm, Fatigue, Epigastric pain, Dysp... ORPHA:88673
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Thyroid carcinoma, Uterine leiomyoma, Pancreatic adenocarcinoma, Renal ham... ORPHA:99880
Selective Igm Deficiency
Thyroid carcinoma, Allergic rhinitis, Stomach cancer, Multiple myeloma, Bronchiectasis, Recurrent... ORPHA:331235
Lead Poisoning
Hypertension, Abdominal cramps, Abnormal respiratory system physiology, Reduced sperm motility, F... ORPHA:330015
Primary Sjögren Syndrome
Chronic pain, Lymphocytic interstitial pneumonia, Lymphoproliferative disorder, Raynaud phenomeno... ORPHA:289390
Acute Liver Failure
Shock, Intracranial hemorrhage, Abnormal respiratory system physiology, Abnormal pattern of respi... ORPHA:90062
Productive cough, Chills, Pericarditis, Pneumonia, Pneumothorax, Pleuritis, Night sweats, Respira... ORPHA:31204
Acute Adrenal Insufficiency
Orthostatic hypotension, Recurrent acute respiratory tract infection, Myocardial infarction, Arth... ORPHA:95409
Parathyroid Carcinoma
Shortened QT interval, Thyroid carcinoma, Parathyroid carcinoma, Uterine leiomyoma, Pancreatic ad... ORPHA:143
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Meningioma, Hemangioma, Choroidal hemangioma, Neuroma ORPHA:221061
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arterial hypertension, Respiratory distres... ORPHA:79282
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Myalgia, Cardiomyopathy, Fatigue, Congestive heart failure OMIM:619259
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous ... ORPHA:99125
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... OMIM:233450
Fatigue, Glioblastoma multiforme ORPHA:360
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Fatigue, Urinary incontinence, Pulmo... ORPHA:94093
Gaisböck Syndrome
Hypertension, Elevated diastolic blood pressure, Myocardial infarction, Fatigue, Stroke, Hypovole... ORPHA:90041
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Lymphoma, Fatigue, B-cell lymphoma, Intesti... ORPHA:90363
Myocarditis, Chills, Pericarditis, Pneumonia, Back pain, Myalgia, Arthralgia, Fatigue, Respirator... ORPHA:533
Acute Monoblastic/Monocytic Leukemia
Exertional dyspnea, Fatigue, Acute monocytic leukemia ORPHA:514
Hyperinsulinism Due To Hnf4A Deficiency
Fatigue, Tachycardia ORPHA:263455
Eosinophilic Fasciitis
Arthralgia, Fatigue, Myalgia ORPHA:3165
Hutchinson-Gilford Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... ORPHA:740
Cyclic Neutropenia
Sinusitis, Fatigue, Respiratory tract infection, Abdominal pain, Bone pain ORPHA:2686
Myocarditis, Hypovolemic shock, Abdominal cramps, Pneumonia, Fatigue, Asthenia, Purpura, Abdomina... ORPHA:810
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Arterial rupture, U... ORPHA:536545
Congenital Analbuminemia
Low pulse pressure, Fatigue, Recurrent lower respiratory tract infections ORPHA:86816
Aregenerative Anemia
Abnormal bleeding, Dyspnea, Fatigue, Bruising susceptibility ORPHA:101096
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Neonatal death, Intraventricular hemorrhage OMIM:619055
Fatigue, Portal hypertension ORPHA:213
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Hepatocellular adenoma, Cardiomyopathy, Myalgia, Fatigue ORPHA:370
Fatigue OMIM:255900
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Postexertional malaise, Knee pain ORPHA:166002
Igg4-Related Retroperitoneal Fibrosis
Hypertension, Renovascular hypertension, Budd-Chiari syndrome, Pain, Flank pain, Large vessel vas... ORPHA:49041
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Respiratory failure, Parathyroid adenoma, H... ORPHA:805
Cystic Echinococcosis
Fatigue, Multiple pulmonary cysts, Asthma, Pulmonary cyst, Epigastric pain, Abnormal subpleural m... ORPHA:400
Osteopetrosis, Autosomal Dominant 3
Fatigue, Asthenia OMIM:618107
Renal Nutcracker Syndrome
Syncope, Orthostatic hypotension, Tachycardia, Flank pain, Fatigue, Abdominal pain ORPHA:71273
Castleman Disease
Constitutional symptom, Restrictive cardiomyopathy, Cough, Flank pain, Fatigue, Dyspnea, Abdomina... ORPHA:160
Chills, Gingival bleeding, Petechiae, Epistaxis, Raynaud phenomenon, Myalgia, Arthralgia, Fatigue... ORPHA:324625
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Pulmonary arterial hypertension, Aortopulmonary window, Anomalous origin of ... ORPHA:99050
Cold Agglutinin Disease
Arthralgia, Fatigue, Back pain ORPHA:56425
Herpes Simplex Virus Encephalitis
Fatigue, Respiratory failure requiring assisted ventilation, Chills ORPHA:1930
Hyperimmunoglobulin G1(A1) Syndrome
Chronic fatigue OMIM:144120
Pituitary Apoplexy
Hypertension, Pituitary adenoma, Fatigue, Trigeminal neuralgia, Hypotension ORPHA:95613
Bone Marrow Failure Syndrome 6
Myalgia, Chronic fatigue, Recurrent sinusitis, Squamous cell carcinoma of the tongue OMIM:618849
Myocarditis, Chills, Pericarditis, Lung abscess, Pneumonia, Arthralgia, Fatigue, Transient ischem... ORPHA:1304
Gaucher Disease Type 3
Pulmonary arterial hypertension, Fatigue, Abnormal pulmonary interstitial morphology, Recurrent r... ORPHA:77261
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Fatigue ORPHA:251623
Primary Sclerosing Cholangitis
Spider hemangioma, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatocellular carcinoma, Pro... ORPHA:171
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue, Stridor ORPHA:352649
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Prolonged prothrombin time, Tachypnea, Apnea, Fatigue, Cardiac arrest, Hy... ORPHA:20
Gitelman Syndrome
Prolonged QT interval, Palpitations, Ventricular tachycardia, Arthralgia, Fatigue, Abdominal pain... OMIM:263800
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Arthralgia, Pituitary adenoma, Fatigue, Abdominal pain, Hypotension ORPHA:199299
Pericarditis, Pneumonia, Vasospasm, Cough, Cerebral ischemia, Pleural empyema, Myalgia, Respirato... ORPHA:228123
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Arthralgia, Fatigue ORPHA:69126
Inhalational Botulism
Dyspnea, Fatigue ORPHA:254504
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myalgia, Fatigue, Hepatocellular adenoma, Cardiomyopathy ORPHA:264580
Pediatric Hepatocellular Carcinoma
Fatigue, Epigastric pain, Abdominal pain ORPHA:33402
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, P... ORPHA:254892
Dubin-Johnson Syndrome
Fatigue, Abdominal pain ORPHA:234
Xeroderma Pigmentosum
Telangiectasia, Conjunctival telangiectasia, Telangiectasia of the skin, Neoplasm, Arthralgia, Fa... ORPHA:910
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Fatigue, Acute myelomonocytic leukemia, Low back pain ORPHA:86843
Adrenocortical adenoma, Neoplasm of the pancreas, Neoplasm of the small intestine, Medullary thyr... ORPHA:97283
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Fatigue ORPHA:98808
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Back pain, Fatigue, Urinary incontinence, Subarachnoid hem... ORPHA:139417
Kawasaki Disease
Myocarditis, Pericarditis, Arthralgia, Fatigue, Vasculitis, Abnormal pulmonary interstitial morph... ORPHA:2331
Autosomal Dominant Optic Atrophy, Classic Form
Myalgia, Fatigue ORPHA:98673
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Pulmonary embolism, Pneumonia, Budd-Chiari syndrome OMIM:226300
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
New-Onset Refractory Status Epilepticus
Fatigue ORPHA:363558
Becker Muscular Dystrophy
Myalgia, Fatigue ORPHA:98895
Arthralgia, Fatigue ORPHA:137817
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, Crackles, Tachypnea, ST segment depression, Abnormal puls... ORPHA:466650
Osteogenesis Imperfecta
Cerebral hemorrhage, Bruising susceptibility, Neonatal respiratory distress, Visceral angiomatosi... ORPHA:666
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Abdominal cramps, Pneumonia, Hypertensive crisis, Pleuritis, Pleural e... ORPHA:544482
Japanese Encephalitis
Chills, Abnormal pattern of respiration, Respiratory paralysis, Myalgia, Respiratory distress, Fa... ORPHA:79139
Pain, Myalgia, Arthralgia, Neck pain, Fatigue, Abdominal pain ORPHA:74
Muckle-Wells Syndrome
Myalgia, Chronic fatigue, Arthralgia OMIM:191900
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abdominal pain, Respiratory tract infection, Pulmonary embolism ORPHA:567548
Sturge-Weber Syndrome
Visceral angiomatosis, Conjunctival telangiectasia, Capillary hemangioma, Stroke, Pulmonary embol... ORPHA:3205
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Neoplasm of the skin, Cardiac conduction abnormality, Endometrial carcino... ORPHA:273
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Back pain, Neoplasm of the liver, Breast carcinoma, Chronic fatigue, O... ORPHA:1333
Klatskin Tumor
Fatigue, Abdominal pain, Cholangiocarcinoma ORPHA:99978
Intracranial hemorrhage, Prolonged QT interval, Pulmonary hypoplasia, Stroke-like episode ORPHA:86309
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Testicular adrenal rest tumor, Episodic abdominal pain, Chronic fati... ORPHA:361
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Creatine Phosphokinase, Elevated Serum
Myalgia, Fatigue OMIM:123320
Hyperprolinemia Type 2
Myalgia, Chronic fatigue, Abdominal pain ORPHA:79101
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Fatigue, Recurrent respiratory infections ORPHA:100026
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Increased blood pressure, Stroke, Retinal hemorrhage ORPHA:90324
Satoyoshi Syndrome
Fatigue OMIM:600705
Primary Biliary Cholangitis
Orthostatic hypotension, Fatigue, Portal hypertension, Hepatocellular carcinoma ORPHA:186
Gaucher Disease
Gingival bleeding, Respiratory insufficiency, Pulmonary arterial hypertension, Arthralgia, Fatigu... ORPHA:355
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension, Episodic fatigue, Abdominal pain ORPHA:3202
Chronic Myeloid Leukemia
Myeloproliferative disorder, Fatigue ORPHA:521
Kikuchi-Fujimoto Disease
Myocarditis, Chills, Vasculitis in the skin, Night sweats, Myalgia, Arthralgia, Fatigue, Vasculit... ORPHA:50918
Koolen-De Vries Syndrome Due To A Point Mutation
Hemangioma, Cardiomyopathy, Pulmonic stenosis, Spina bifida, Intraventricular hemorrhage, Recurre... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hemangioma, Cardiomyopathy, Pulmonic stenosis, Spina bifida, Intraventricular hemorrhage, Recurre... ORPHA:363958
Marburg Hemorrhagic Fever
Shock, Pericarditis, Chills, Petechiae, Subconjunctival hemorrhage, Prolonged prothrombin time, T... ORPHA:99826
Loeys-Dietz Syndrome 3
Atrial fibrillation, Mitral regurgitation, Tortuous cerebral arteries, Pneumothorax, Dilatation o... OMIM:613795
Atypical Juvenile Parkinsonism
Fatigue ORPHA:391411
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Bradycardia, Umbilical hernia ORPHA:90674
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Chills, Chest pain, Tachycardia, Arthralgia, Respiratory distress, Fatigue, Acute infectious pneu... ORPHA:707
Angioosteohypertrophic Syndrome
Cavernous hemangioma, Visceral angiomatosis, Telangiectasia of the skin, Gastrointestinal hemorrh... ORPHA:2346
Yellow Fever
Shock, Chills, Reduced ejection fraction, Prolonged prothrombin time, Bradycardia, Excessive blee... ORPHA:99829
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myalgia, Fatigue, Hepatocellular adenoma, Hepatocellular carcinoma ORPHA:79240
Phace Syndrome
Visceral angiomatosis, Abnormal cerebral artery morphology, Capillary hemangioma, Cerebral arteri... ORPHA:42775
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigue ORPHA:257
Igg4-Related Kidney Disease
Pericarditis, Interstitial pneumonitis, Lymphocytoma cutis, Pleuritis, Chronic sinusitis, Fatigue... ORPHA:449395
Non-Functioning Pituitary Adenoma
Fatigue, Hypotension ORPHA:91349
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Elevated pulmonary artery pressure, Bidirectional shunt, Pulmonary hypo... OMIM:619351
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Fatigue, Umbilical hernia, Back pain OMIM:619234
Adrenocortical adenoma, Benign gastrointestinal tract tumors, Respiratory insufficiency due to mu... ORPHA:97282
Abnormal cerebral artery morphology, Antenatal intracerebral hemorrhage ORPHA:2177
Fatigue, Hypotension ORPHA:2965
Adrenocortical adenoma, Neoplasm of the pancreas, Episodic abdominal pain, Chronic fatigue, Gastr... ORPHA:97280
Abnormal cardiac ventricular function, Bronchiectasis, Ventricular tachycardia, Pneumothorax, Chy... ORPHA:797
Generalized Glucocorticoid Resistance Syndrome
Hypertension, Fatigue, Stroke ORPHA:786
Functioning Gonadotropic Adenoma
Fatigue, Pituitary gonadotropic cell adenoma ORPHA:91348
Kufor-Rakeb Syndrome
Fatigue OMIM:606693
Tetrasomy 9P
Pericarditis, Pulmonary arterial hypertension, Raynaud phenomenon, Lissencephaly, Pachygyria, Fat... ORPHA:3310
Ehlers-Danlos Syndrome, Vascular Type
Ecchymosis, Pneumothorax, Pulmonary bleb, Dilatation of the cerebral artery, Arterial rupture, Pu... OMIM:130050
Insulin-Resistance Syndrome Type B
Multiple myeloma, Pneumonia, Hodgkin lymphoma, Lymphoma, Fatigue ORPHA:2298
Addison Disease
Orthostatic hypotension, Arthralgia, Fatigue, Thymoma, Abdominal pain, Hypotension ORPHA:85138
Viss Syndrome
Pulmonary artery aneurysm, Epidural hemorrhage, Tortuous cerebral arteries, Pneumothorax, Dilatat... OMIM:619472
Lymphatic Filariasis
Wheezing, Pain, Cough, Fatigue, Abnormal lung morphology, Restrictive ventilatory defect ORPHA:2035
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills ORPHA:86884
Classical Ehlers-Danlos Syndrome
Ecchymosis, Limb pain, Mitral regurgitation, Orthostatic hypotension, Dilatation of the cerebral ... ORPHA:287
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Pituitary growth hormone cell ad... ORPHA:314769
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Fatigue OMIM:260480
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... ORPHA:2020
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Pituitary growth hormone cell ad... ORPHA:963
Malt Lymphoma
B-cell lymphoma, Fatigue, Recurrent respiratory infections, Abdominal pain ORPHA:52417
Hypocalciuric Hypercalcemia, Familial, Type Iii