banner
Genes Phenotypes Help, News, Blog

Gene: Aggf1 MGI:1913799

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes		 Matching phenotypes Source
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Hemangioma, Venous insufficiency, Respiratory insufficiency, Pu... ORPHA:90308

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu... OMIM:618734
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... OMIM:234810
Cerebral Cavernous Malformations 2
Telangiectasia, Stroke, Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603284
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Circumvallate Placenta Syndrome
Respiratory insufficiency, Intracranial hemorrhage OMIM:215550
Heparin-Induced Thrombocytopenia
Stroke, Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding ORPHA:3325
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Atrial Septal Defect, Sinus Venosus Type
Stroke, Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricula... ORPHA:99105
Tuberculosis
Cough, Abnormal lung morphology, Fatigue ORPHA:3389
Congenital Factor V Deficiency
Gingival bleeding, Prolonged bleeding after dental extraction, Hematochezia, Bruising susceptibil... ORPHA:326
Familial Cervical Artery Dissection
Subarachnoid hemorrhage, Stroke, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Hyp... ORPHA:36382
Pontiac Fever
Cough, Myalgia, Fatigue ORPHA:99748
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... ORPHA:79
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Congenital Factor Xiii Deficiency
Gingival bleeding, Prolonged bleeding after dental extraction, Myeloid leukemia, Bruising suscept... ORPHA:331
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Prolonged bleeding after dental extraction, Post-partum hemorrhage, I... ORPHA:325
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... ORPHA:422
Brain Small Vessel Disease 2
Polymicrogyria, Intracranial hemorrhage, Subcortical heterotopia OMIM:614483
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... OMIM:613225
Periventricular Nodular Heterotopia 1
Stroke, Cerebral hemorrhage, Gray matter heterotopia, Patent ductus arteriosus, Abnormality of ne... OMIM:300049
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Glanzmann Thrombasthenia 1
Gingival bleeding, Bruising susceptibility, Subdural hemorrhage, Intracranial hemorrhage, Excessi... OMIM:273800
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Afibrinogenemia, Congenital
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Bruising susc... OMIM:202400
Erythrocytosis, Familial, 2
Hemangioma, Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Fatigue, V... OMIM:263400
Moderate Hemophilia A
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Subdural hemo... ORPHA:169805
Severe Hemophilia A
Epidural hemorrhage, Bruising susceptibility, Subdural hemorrhage, Persistent bleeding after trau... ORPHA:169802
Factor Vii Deficiency
Prolonged bleeding after dental extraction, Bruising susceptibility, Intracranial hemorrhage, Joi... OMIM:227500
Snakebite Envenomation
Pain, Stroke, Gingival bleeding, Hypotension, Cardiogenic shock, Intracranial hemorrhage, Ecchymo... ORPHA:449285
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Reversible Cerebral Vasoconstriction Syndrome
Subarachnoid hemorrhage, Cerebral hemorrhage, Subdural hemorrhage, Ischemic stroke, Vasospasm, Tr... ORPHA:284388
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure, Fatigue, Abdominal pain OMIM:616794
Hemophilia A
Intracranial hemorrhage, Joint hemorrhage, Intraventricular hemorrhage, Spontaneous hematomas, Ga... ORPHA:98878
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Neonatal respiratory distress, Fatigue, Respiratory tract infection OMIM:616326
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Fatigue OMIM:619477
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... ORPHA:231160
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Dyspnea, Reduced left ventricular eject... ORPHA:1344
Acquired Purpura Fulminans
Prolonged prothrombin time, Neoplasm, Intracranial hemorrhage, Gangrene, Macular purpura, Shock, ... ORPHA:49566
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Hypotension, Bruising suscep... ORPHA:99147
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... ORPHA:327
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Aspergillosis
Stroke, Ocular pain, Pleuritis, Dyspnea, Abnormality on pulmonary function testing, Chronic pulmo... ORPHA:1163
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abdominal pain, Respiratory failure, Par... ORPHA:563
Macrophagic Myofasciitis
Myalgia, Fatigue, Arthralgia ORPHA:592
Polycythemia Vera
Stroke, Gingival bleeding, Bruising susceptibility, Respiratory insufficiency, Hypertension, Pulm... ORPHA:729
Takayasu Arteritis
Pulmonary arterial hypertension, Vasculitis, Hypertension, Fatigue, Abnormal pattern of respirati... ORPHA:3287
Immune Thrombocytopenia
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Gastrointestinal hemorr... ORPHA:3002
Tempi Syndrome
Hemangioma, Intracranial hemorrhage, Hypoxemia, Transudative pleural effusion, Telangiectasia, Ab... ORPHA:284227
Mantle Cell Lymphoma
B-cell lymphoma, Fatigue ORPHA:52416
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Antepartum hemorrhage, Pr... ORPHA:328
Polymyositis
Abnormal pulmonary interstitial morphology, Vasculitis, Respiratory insufficiency, Arrhythmia, Ab... ORPHA:732
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Myeloproliferative disorder, Bruising susceptibility, Intracran... ORPHA:3226
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Fatigue, Myocardial infarction, Exertional dyspnea OMIM:133100
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Ischemic stroke, Intracranial hemorrhage, Hypertension, Transient is... ORPHA:136
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after dental extraction, Bruisi... ORPHA:35909
Hodgkin Lymphoma
Neoplasm, Dyspnea, Cough, Bone pain, Fatigue, Lymphoma, Chest pain ORPHA:98293
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Fatigue, Angina pectoris, Right ventricular failure, Ex... OMIM:265400
Non-Functioning Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... ORPHA:94080
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Lower limb pain, Dyspnea, Hypertension, Exercise intolerance, Fatigue, Multiple lipomas, Congesti... ORPHA:1349
Refractory Anemia
Single lineage myelodysplasia, Dyspnea, Abnormal cardiac ventricular function, Myelodysplasia, Fa... ORPHA:98826
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Intracranial hemorrhage, Joint hemorrhage, Prolong... OMIM:227600
Hereditary Hemorrhagic Telangiectasia
Cavernous hemangioma, Transient ischemic attack, Epistaxis, Conjunctival telangiectasia, Subarach... ORPHA:774
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Joint hemorrhage, Cephalohem... ORPHA:98879
Primary Familial Polycythemia
Dyspnea, Cough, Fatigue, Abdominal pain, Arthralgia, Abnormal bleeding, Epistaxis, Exertional dys... ORPHA:90042
Atrial Septal Defect, Coronary Sinus Type
Stroke, Supraventricular arrhythmia, Transient ischemic attack, Bundle branch block, Exertional d... ORPHA:99104
Fetal And Neonatal Alloimmune Thrombocytopenia
Subarachnoid hemorrhage, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Purpura, Spontaneo... ORPHA:853
Typhoid
Cardiac arrest, Epistaxis, Cough, Arrhythmia, Fatigue, Abdominal pain, Gastrointestinal hemorrhag... ORPHA:99745
Analbuminemia
Hypotension, Recurrent lower respiratory tract infections, Fatigue, Patent ductus arteriosus OMIM:616000
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after dental extraction, Epidural hemorrhage, Persistent bleeding after trauma... ORPHA:465
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Bruising susceptibility, Myelodysplasia, Fatigue, Abnormal bleeding, Acute leukemia ORPHA:231401
Spinal Arteriovenous Metameric Syndrome
Arteriovenous malformation, Bone pain, Fatigue, Cutaneous angiolipomas, Visceral angiomatosis, Ga... ORPHA:53721
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Bruising susceptibility, Arrhythmia, Fatigue, Gastrointestinal hemorrhage, Spina bifida o... ORPHA:230839
Methanol Poisoning
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Abdominal ... ORPHA:31825
Atrial Septal Defect, Ostium Secundum Type
Stroke, Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Bundle b... ORPHA:99103
Primary Angiitis Of The Central Nervous System
Stroke, Constitutional symptom, Cerebral vasculitis, Intracranial hemorrhage, Transient ischemic ... ORPHA:140989
Acute Interstitial Pneumonia
Atelectasis, Hypoxemia, Respiratory failure, Arthralgia, Subpleural honeycombing, Dyspnea, Decrea... ORPHA:79126
Familial Afibrinogenemia
Epistaxis, Gingival bleeding, Cerebral hemorrhage, Abnormal bleeding ORPHA:98880
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Hypoxemia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa... OMIM:187300
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Mucoid extracellular matrix accumulation, Transient ischemic attack, Descending thoracic ... ORPHA:91387
Extracranial Carotid Artery Aneurysm
Pain, Stroke, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Arterial fibromuscular dyspl... ORPHA:494424
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Hemangioma, High-output congestive heart failure, Arteriovenous... ORPHA:137667
Systemic Capillary Leak Syndrome
Myocarditis, Constitutional symptom, Hypotension, Cough, Arrhythmia, Multiple myeloma, Cardioresp... ORPHA:188
Nipah Virus Disease
Hypotension, Cough, Fatigue, Respiratory distress, Recurrent pharyngitis, Myalgia ORPHA:99825
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Hemangioma, Venous insufficiency, Respiratory insufficiency, Pu... ORPHA:90308
Schnitzler Syndrome
Vasculitis, Bone pain, Fatigue, Arthralgia, Lymphoma, Myalgia ORPHA:37748
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Vasculitis, Dyspnea, Cough, Pulmonary embolism, Cardiorespirator... ORPHA:228116
Pseudo-Torch Syndrome 2
Polymicrogyria, Cerebral hemorrhage, Acute respiratory distress syndrome, Respiratory insufficien... OMIM:617397
Telangiectasia, Hereditary Hemorrhagic, Type 4
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Conjunctival t... OMIM:610655
Dengue Fever
Gingival bleeding, Hypotension, Bruising susceptibility, Cerebral hemorrhage, Cardiorespiratory a... ORPHA:99828
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Parkes Weber Syndrome
Vascular tortuosity, Abnormal bleeding, Venous malformation, Cerebral arteriovenous malformation,... ORPHA:90307
Cholangiocarcinoma
Biliary tract neoplasm, Fatigue, Abdominal pain ORPHA:70567
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Babesiosis
Respiratory insufficiency, Cough, Fatigue, Congestive heart failure, Arthralgia, Myocardial infar... ORPHA:108
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Re... ORPHA:99106
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pulmonary ... ORPHA:624
Dural Sinus Malformation
Subarachnoid hemorrhage, Ear pain, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Cerebellar h... ORPHA:97339
Undifferentiated Pleomorphic Sarcoma
Fatigue, Soft tissue sarcoma ORPHA:2023
Wiskott-Aldrich Syndrome
Gingival bleeding, Acute leukemia, Chronic pulmonary obstruction, Intracranial hemorrhage, Epista... ORPHA:906
Neurocutaneous Melanocytosis
Neoplasm, Melanoma, Meningocele, Intracranial hemorrhage, Abnormality of neuronal migration ORPHA:2481
Focal Facial Dermal Dysplasia Type Iv
Hemangioma, Intracranial hemorrhage ORPHA:398189
Idiopathic Pulmonary Hemosiderosis
Dyspnea, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Restrictive ventilator... ORPHA:99931
Adiposis Dolorosa
Chronic pain, Fatigue, Arthralgia, Painful subcutaneous lipomas OMIM:103200
Liddle Syndrome
Arrhythmia, Hypertension, Cerebral ischemia, Fatigue ORPHA:526
Ebstein Malformation Of The Tricuspid Valve
Chest pain, Respiratory insufficiency, Arrhythmia, Atrial fibrillation, Fatigue, Sudden cardiac d... ORPHA:1880
Sengers Syndrome
Cardiac arrest, Pulmonary arterial hypertension, Respiratory insufficiency, Exercise intolerance,... OMIM:212350
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, ... ORPHA:99095
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... ORPHA:53719
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Autoerythrocyte Sensitization Syndrome
Pain, Epigastric pain, Epistaxis, Bruising susceptibility, Intracranial hemorrhage, Fatigue, Join... ORPHA:324636
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Right bundle branch block, Dyspnea, Mitral regurgitation,... ORPHA:75566
Evans Syndrome
Dyspnea, Bruising susceptibility, Syncope, Fatigue, Petechiae, Epistaxis ORPHA:1959
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the larynx, Chronic fatigue, Exertional dyspnea ORPHA:100083
Familial Hyperaldosteronism Type I
Epistaxis, Hypertension, Intracranial hemorrhage, Secretory adrenocortical adenoma ORPHA:403
Autoimmune Hemolytic Anemia
Dyspnea, Arrhythmia, Fatigue, Abdominal pain, Congestive heart failure, Lymphoma ORPHA:98375
Telangiectasia, Hereditary Hemorrhagic, Type 2
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... OMIM:600376
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Recurrent sinopulmonary infections, Cerebral vasculitis, Recurrent pneum... OMIM:243700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Central sleep... ORPHA:464321
Cryptogenic Organizing Pneumonia
Dyspnea, Wheezing, Restrictive ventilatory defect, Cough, Hypoxemia, Night sweats, Fatigue, Nonpr... ORPHA:1302
Cerebral Amyloid Angiopathy, App-Related
Subarachnoid hemorrhage, Stroke, Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cereb... OMIM:605714
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension, Moyamoya phenomenon, Coronary artery atherosc... ORPHA:280679
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the liver, Respiratory insufficiency, Hypertension, Abdominal pain, I... ORPHA:69077
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Pulmonary arteriovenous malformation, Hematochezia, Hepatic arteriovenous malformation, M... OMIM:175050
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Fatigue, Ecchymosis, Portal hypertension, Petechiae, Epistaxis OMIM:619463
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Cerebral hemorrhage, Syncope, Ischemic stroke, Hypertension, Impairment o... ORPHA:90065
Acute Promyelocytic Leukemia
Gingival bleeding, Diffuse alveolar hemorrhage, Bruising susceptibility, Productive cough, Bone p... ORPHA:520
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Fixed Subaortic Stenosis
Dyspnea, Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Coarctation of aorta, Pa... ORPHA:3092
Familial Hyperaldosteronism Type Ii
Epistaxis, Hypertension, Intracranial hemorrhage, Secretory adrenocortical adenoma ORPHA:404
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Breast carcinoma, B-cell lymphoma, Fatigue, Lymphoma ORPHA:86893
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Adrenal pheochromocytoma, Fatigue, Hyperten... ORPHA:276621
Juvenile Polyposis Syndrome
Intestinal polyp, Abdominal pain, Transient ischemic attack, Spontaneous, recurrent epistaxis, Mu... ORPHA:2929
Follicular Lymphoma
Pleural effusion, Night sweats, Fatigue, Lymphoma ORPHA:545
Acquired Methemoglobinemia
Dyspnea, Syncope, Palpitations, Arrhythmia, Hypoxemia, Fatigue, Abdominal pain, Respiratory distr... ORPHA:464453
Hemorrhagic Fever-Renal Syndrome
Intracranial hemorrhage, Abdominal pain, Respiratory failure, Epistaxis, Dyspnea, Hypotension, Pa... ORPHA:340
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive vent... ORPHA:79128
Refractory Anemia With Excess Blasts
Single lineage myelodysplasia, Acute myeloid leukemia, Palpitations, Bone pain, Fatigue, Multiple... ORPHA:86839
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Pheochromocytoma, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Pulmonary hemorrhage, Cough, Palpitations, Ischemic str... ORPHA:2038
Epiphyseal Dysplasia, Multiple, 2
Knee pain, Foot pain, Fatigue OMIM:600204
Kaposiform Lymphangiomatosis
Papilloma, Dyspnea, Epidural hemorrhage, Bruising susceptibility, Cough, Exercise intolerance, Ab... ORPHA:464329
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Bruising susceptibility, Cerebral hemorrhage, Joint hemorrhage, Ecchy... OMIM:277450
Spontaneous Periodic Hypothermia
Arrhythmia, Fatigue, Abnormal pattern of respiration ORPHA:29822
Inhalational Anthrax
Dyspnea, Hypotension, Fatigue, Respiratory distress, Internal hemorrhage ORPHA:247257
Hellp Syndrome
Prolonged prothrombin time, Epigastric pain, Hypotension, Cerebral hemorrhage, Shoulder pain, Int... ORPHA:244242
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Neoplasm of the adrenal cortex, Uterine neoplasm, Arteriovenous malformation, Aortic an... ORPHA:109
Rheumatic Fever
Myocarditis, Respiratory insufficiency, Arrhythmia, Abnormal pleura morphology, Fatigue, Abdomina... ORPHA:3099
Isolated Right Ventricular Hypoplasia
Dyspnea, Systolic heart murmur, Right ventricular failure, Hypoxemia, Right-to-left shunt, Fatigu... ORPHA:439
Thymic Carcinoma
Dyspnea, Cough, Neoplasm of the thymus, Abnormal vena cava morphology, Fatigue, Chest pain ORPHA:99868
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Chronic lymphatic leukemia, Fatigue, Congestive heart failure, Arth... ORPHA:90033
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Renal cell carcinoma, Cerebral hemorrhage, Sinus tachycardia, Palpitat... ORPHA:29072
Familial Colorectal Cancer Type X
Abdominal pain, Benign neoplasm of the central nervous system, Urinary tract neoplasm, Basal cell... ORPHA:440437
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Fatigue ORPHA:228312
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Pheochromocytoma
Hemangioma, Neoplasm, Cerebral hemorrhage, Pheochromocytoma, Renal artery stenosis, Congestive he... OMIM:171300
Simple Cryoglobulinemia
Raynaud phenomenon, Stroke, Vasculitis, Chronic lymphatic leukemia, Hypertension, Multiple myelom... ORPHA:91139
Mastocytosis
Acute leukemia, Hypotension, Respiratory insufficiency, Arrhythmia, Cough, Fatigue, Chronic leuke... ORPHA:98292
Cholestasis-Lymphedema Syndrome
Bone pain, Fatigue, Abdominal pain, Portal hypertension, Gastrointestinal hemorrhage, Multiple li... ORPHA:1414
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Cough, A... ORPHA:183
Waldenström Macroglobulinemia
Stroke, Vasculitis, Gingival bleeding, Respiratory insufficiency, Leukemia, Fatigue, Monoclonal i... ORPHA:33226
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Hypoxemia, Capi... ORPHA:542323
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Mitral regurgitation, Squamous cell carcinoma of the skin, Aortic ... ORPHA:363618
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma OMIM:262850
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Hypertension, Intracranial hemorrhage, Neoplasm of the adrenal gla... ORPHA:231625
Kaposi Sarcoma
Hemangioma, Lymphoproliferative disorder, Venous insufficiency, Neoplasm by anatomical site, Fati... ORPHA:33276
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Cocaine Intoxication
Prolonged QRS complex, Hyperventilation, Abdominal pain, Supraventricular arrhythmia, Pneumothora... ORPHA:90068
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Arthralgia, Lymphoma, Tachycardia, Exertional dyspnea ORPHA:90036
Classic Hodgkin Lymphoma
Neoplasm, Respiratory insufficiency, Cough, Bone pain, Fatigue, Lymphoma, Chest pain ORPHA:391
Relapsing Fever
Prolonged prothrombin time, Epistaxis, Hypotension, Cough, Fatigue, Abdominal pain, Chills, Arthr... ORPHA:91547
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Abnormal T-wave, Neoplasm, Myeloproliferative disorder, Reduced ... ORPHA:70591
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stroke, Myelodysplasia, Fatigue, Respiratory distress, Cerebral ischemia ORPHA:927
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy, Fatigue, Arthralgia OMIM:606069
Familial Dilated Cardiomyopathy
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... ORPHA:217607
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism, Purpura, Gangrene ORPHA:745
Congenital Glucokinase-Related Hyperinsulinism
Fatigue ORPHA:79299
Unclassified Myelodysplastic Syndrome
Night sweats, Fatigue, Multiple lineage myelodysplasia, Myelodysplasia, Acute myeloid leukemia ORPHA:98827
Lynch Syndrome
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Colon cancer, Ne... ORPHA:144
Avian Influenza
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Fatigue, Abdominal p... ORPHA:454836
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Dyspnea, Exercise intolerance, Fatigue, Hypertrophic cardiomyopathy, Heart murmur, Myalgia OMIM:615418
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue ORPHA:79283
Granulomatosis With Polyangiitis
Pleuritis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Diffuse alveolar hemorrhage, R... OMIM:608710
Legionnaires Disease
Myocarditis, Hypotension, Restrictive ventilatory defect, Arrhythmia, Abnormal pleura morphology,... ORPHA:549
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism, Purpura, Gangren... ORPHA:743
Fetal Gaucher Disease
Stillbirth, Intracranial hemorrhage, Neonatal death ORPHA:85212
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Autoinflammation With Infantile Enterocolitis
Myalgia, Fatigue, Arthralgia, Diffuse alveolar hemorrhage OMIM:616050
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Respiratory insufficiency due to muscle weakness, Central apnea, Spina bifid... OMIM:618291
Primary Myelofibrosis
Hemangioma, Constitutional symptom, Fatigue, Ecchymosis, Purpura, Portal hypertension, Petechiae,... ORPHA:824
Mixed Connective Tissue Disease
Myocarditis, Pulmonary arterial hypertension, Pleuritis, Dyspnea, Fatigue, Pulmonary fibrosis, Pu... ORPHA:809
Malignant Atrophic Papulosis
Ischemic stroke, Fatigue, Abdominal pain, Gastrointestinal hemorrhage, Arteritis, Respiratory fai... ORPHA:679
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... ORPHA:199241
Aggressive Systemic Mastocytosis
Constitutional symptom, Hypotension, Leukemia, Bone pain, Fatigue, Abdominal pain, Portal hyperte... ORPHA:98850
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... ORPHA:254875
Juvenile Dermatomyositis
Vasculitis, Dyspnea, Restrictive ventilatory defect, Arrhythmia, Cardiomyopathy, Mucosal telangie... ORPHA:93672
Hemochromatosis, Type 3
Purpura, Cardiomyopathy, Fatigue OMIM:604250
Intellectual Disability And Myopathy Syndrome
Sleep apnea, Left ventricular systolic dysfunction, Fatigue OMIM:619719
Giant Cell Arteritis
Vasculitis, Epistaxis, Cough, Double outlet right ventricle with subpulmonary ventricular septal ... ORPHA:397
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... ORPHA:2041
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Fatigue, Exertional dyspnea ORPHA:90037
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Right aortic arch, Hypertension, Premature coronary artery atherosclerosis, ... OMIM:300845
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Fatigue, Neoplasm of the stomach, Gastrointestinal stroma tumor, Gastroin... ORPHA:44890
Hypophosphatasia, Infantile
Stillbirth, Recurrent respiratory infections, Intracranial hemorrhage, Apnea OMIM:241500
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Recurrent respiratory infections, Dyspnea, Wolff-Parkinson-White syndrom... OMIM:232300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Intracranial hemorrhage, Hypertension, Second degree atrioventri... ORPHA:369929
Eisenmenger Syndrome
Stroke, Right bundle branch block, Tetralogy of Fallot, Hypoxemia, Tricuspid regurgitation, Supra... ORPHA:97214
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Fatigue ORPHA:276608
Familial Isolated Restrictive Cardiomyopathy
Stroke, Recurrent respiratory infections, Dyspnea, Mitral regurgitation, Syncope, Pulmonary venou... ORPHA:75249
Dermatomyositis
Myocarditis, Gastrointestinal stroma tumor, Arthralgia, Myocardial infarction, Recurrent respirat... ORPHA:221
Pseudoxanthoma Elasticum, Forme Fruste
Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc... OMIM:177850
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise-induced myalgia, Exercise intolerance, Fatigue, Exertional dyspnea, Hypertrophic cardiom... ORPHA:368
Solitary Fibrous Tumor
Neoplasia of the pleura, Neoplasm, Low back pain, Soft tissue neoplasm, Neoplasm of the liver, Ut... ORPHA:2126
Mirage Syndrome
Aspiration pneumonia, Intracranial hemorrhage, Myelodysplasia, Petechiae, Patent ductus arteriosus OMIM:617053
Whipple Disease
Myocarditis, Pleuritis, Hypotension, Respiratory insufficiency, Cough, Fatigue, Abdominal pain, G... ORPHA:3452
Hyperinsulinism Due To Insr Deficiency
Fatigue ORPHA:263458
Liposarcoma
Sarcoma, Fatigue, Abdominal pain, Varicose veins ORPHA:69078
Carney Triad
Adrenocortical adenoma, Arrhythmia, Pheochromocytoma, Hypertension, Fatigue, Abdominal pain, Gast... ORPHA:139411
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Neoplasm of the liver, Right ventricular failure, Bronchospasm, Palpitations, Facial tel... ORPHA:100085
Pulmonary Alveolar Microlithiasis
Subpleural interstitial thickening, Hypoxemia, Respiratory failure, Pneumothorax, Oxygen desatura... ORPHA:60025
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Abdominal pain, Bundle branch block, Arthralgia, Bradycardia, Epi... ORPHA:99827
Adult-Onset Still Disease
Myocarditis, Pleuritis, Restrictive ventilatory defect, Fatigue, Abdominal pain, Arthralgia, Recu... ORPHA:829
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... ORPHA:99094
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Arterial intimal fibros... OMIM:178600
Stormorken Syndrome
Subarachnoid hemorrhage, Epistaxis, Bruising susceptibility, Abnormal bleeding, Myalgia, Stroke-l... OMIM:185070
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Myeloproliferative disorder, Dyspnea, Cough, Intracranial hemorrhage, Pulmona... ORPHA:3260
Al Amyloidosis
Abnormal EKG, Abnormal pulmonary interstitial morphology, Dyspnea, Reduced left ventricular eject... ORPHA:85443
Pseudo-Torch Syndrome 3
Respiratory insufficiency, Hypertension, Cerebral hemorrhage, Apnea OMIM:618886
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Lethal Congenital Contracture Syndrome 5
Respiratory insufficiency, Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Mucolipidosis Type Iii
Fatigue ORPHA:577
X-Linked Sideroblastic Anemia
Dyspnea, Fatigue ORPHA:75563
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... OMIM:615344
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopath... ORPHA:99901
Lymphangioleiomyomatosis
Recurrent respiratory infections, Renal neoplasm, Dyspnea, Atelectasis, Renal angiomyolipoma, Res... ORPHA:538
Propionic Acidemia
Cardiomyopathy, Tachypnea, Cerebellar hemorrhage, Apnea OMIM:606054
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Foam cells, Fatigue, C... ORPHA:747
Granulomatosis With Polyangiitis
Pleuritis, Chronic pulmonary obstruction, Abdominal pain, Angina pectoris, Arthralgia, Epistaxis,... ORPHA:900
Myofibrillar Myopathy 11
Reduced forced vital capacity, Coarctation of aorta, Fatigue OMIM:619178
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Myeloid leukemia, Hypotension, Chronic myelomonocytic leukemia, Chro... ORPHA:98849
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... ORPHA:97292
Hepatitis, Fulminant Viral, Susceptibility To
Gingival bleeding, Fatigue OMIM:618549
Medulloblastoma
Medulloblastoma, Neoplasm of the lung, Cerebellar medulloblastoma, Spinal cord tumor, Adenomatous... ORPHA:616
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Exercise intolerance, Fatigue, Bradycardia, Myalgia OMIM:609286
Thyroid Hemiagenesis
Umbilical hernia, Fatigue ORPHA:95719
Postpoliomyelitis Syndrome
Pain, Respiratory insufficiency, Fatigue, Hypoventilation, Arthralgia, Myalgia ORPHA:2942
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise-induced myalgia, Dyspnea, Palpitations, Exercise intolerance, Fatigue, Hypertrophic card... OMIM:618250
Glycogen Storage Disease Due To Acid Maltase Deficiency
Bowel incontinence, Atelectasis, Abnormal internal carotid artery morphology, Left ventricular ou... ORPHA:365
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Fatigue, Sudden cardiac death ORPHA:156
Insulinoma
Pituitary prolactin cell adenoma, Palpitations, Fatigue, Neoplasm of the adrenal gland, Neuroendo... ORPHA:97279
Menkes Disease
Intracranial hemorrhage OMIM:309400
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Gingival bleeding, Abnormal umbilical stump bleeding, Bruising suscep... ORPHA:335
Postorgasmic Illness Syndrome
Palpitations, Hypertension, Fatigue ORPHA:279947
Cronkhite-Canada Syndrome
Neoplasm, Colon cancer, Fatigue, Abdominal pain, Stomach cancer, Hamartomatous polyposis, Gastroi... ORPHA:2930
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue, Recurrent upper respiratory tract infections ORPHA:589905
Lyme Disease
Arrhythmia, Fatigue, Atrioventricular block, Arthralgia, Myalgia ORPHA:91546
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Verrucae, Cough, Fatigue, Sinusitis, Bronchiectasis ORPHA:33110
Riddle Syndrome
Bronchitis, Chronic sinusitis, Restrictive ventilatory defect, Abdominal pain, Pulmonary fibrosis... ORPHA:420741
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Fatigue OMIM:615767
Joubert Syndrome 14
Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced myalgia, Arrhythmia, Fatigue, Exertional dyspnea ORPHA:42
Complete Atrioventricular Septal Defect
Intercostal retractions, Abnormal EKG, Third heart sound, Systolic heart murmur, Wheezing, Tachyp... ORPHA:1329
Vexas Syndrome
Night sweats, Fatigue, Myelodysplasia, Arteritis, Arthralgia OMIM:301054
Mast Cell Sarcoma
Fatigue, Sarcoma ORPHA:66661
Rheumatoid Arthritis
Vasculitis, Fatigue, Arthralgia OMIM:180300
Corticosteroid-Binding Globulin Deficiency
Asthenia, Hypertension, Fatigue, Hypotension OMIM:611489
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Barth Syndrome
Arrhythmia, Exercise intolerance, Fatigue, Tricuspid regurgitation, Congestive heart failure, Inc... OMIM:302060
Leishmaniasis
Night sweats, Fatigue, Arthralgia, Abnormal bleeding, Rhinitis ORPHA:507
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... OMIM:615343
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Fatigue, ... ORPHA:465508
Hermansky-Pudlak Syndrome
Dyspnea, Squamous cell carcinoma of the skin, Bruising susceptibility, Cardiomyopathy, Fatigue, A... ORPHA:79430
Isolated Agammaglobulinemia
Pneumonia, Recurrent respiratory infections, Fatigue, Sinusitis ORPHA:229717
Mitochondrial Myopathy With Lactic Acidosis
Fatigue OMIM:251950
Pfapa Syndrome
Recurrent pharyngitis, Arthralgia, Fatigue, Abdominal pain ORPHA:42642
Arterial Tortuosity Syndrome
Cardiac arrest, Myocarditis, Dyspnea, Aortic root aneurysm, Aortic aneurysm, Telangiectasia of th... ORPHA:3342
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Menkes Disease
Venous insufficiency, Umbilical hernia, Exostoses, Intracranial hemorrhage, Abnormal carotid arte... ORPHA:565
Catastrophic Antiphospholipid Syndrome
Myocarditis, Stroke, Pulmonary arterial hypertension, Retinal arterial occlusion, Abnormal jugula... ORPHA:464343
Alexander Disease
Fatigue OMIM:203450
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Abnormal jugular vein morphology, Syncope, Palpitations... ORPHA:275766
Botulism
Respiratory insufficiency, Arrhythmia, Fatigue, Abdominal pain ORPHA:1267
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... ORPHA:99050
Porphyria
Chest pain, Hypertension, Fatigue, Abdominal pain ORPHA:738
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Post-partum hemorrhage, Fatigue, Melena, Oral cavity bleeding ORPHA:98870
Absence Of The Pulmonary Artery
Right aortic arch, Tetralogy of Fallot, Reduced left ventricular ejection fraction, Truncus arter... ORPHA:980
Poems Syndrome
Pain, Hemangioma, Pulmonary arterial hypertension, Lymphoproliferative disorder, Restrictive vent... ORPHA:2905
Adiposis Dolorosa
Bruising susceptibility, Fatigue, Arthralgia, Telangiectasia of the skin ORPHA:36397
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue OMIM:253601
Diffuse Alveolar Hemorrhage
Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Pulmonary venous hypertension, Hy... ORPHA:90060
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Fatigue ORPHA:1215
Classic Homocystinuria
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Gastrointe... ORPHA:394
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Iatrogenic Botulism
Dyspnea, Fatigue, Orthostatic hypotension ORPHA:254509
Reynolds Syndrome
Respiratory insufficiency, Mucosal telangiectasiae, Fatigue, Telangiectasia of the skin, Myalgia ORPHA:779
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Tricuspid regurgitation, Congestive heart failure, ... ORPHA:95459
Scimitar Syndrome
Tetralogy of Fallot, Left superior vena cava draining to coronary sinus, Bronchogenic cyst, Pneum... ORPHA:185
X-Linked Agammaglobulinemia
Neoplasm, Fatigue, Sinusitis, Recurrent pneumonia, Abnormal lung morphology ORPHA:47
Q Fever
Myocarditis, Vasculitis, Cough, Night sweats, Fatigue, Respiratory distress, Purpura, Abnormal le... ORPHA:781
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Neonatal respiratory distress, Restrictive ventilatory de... ORPHA:70
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue ORPHA:314632
Immunodeficiency 70
Chronic fatigue, Verrucae, Recurrent sinusitis OMIM:618969
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Pulmonary arterial hypertension, Dyspnea, Coarctation of aorta, Abort... OMIM:614921
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Athyreosis
Fatigue ORPHA:95713
Spastic Paraplegia Type 2
Recurrent respiratory infections, Bowel incontinence, Pulmonary embolism ORPHA:99015
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Anal canal adenocarcinoma, Neoplasm of the liver, Chronic fatigue, Neopla... ORPHA:424016
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Respiratory insufficiency, Intracranial hemorrhage, Capillary hemangioma, Interrupted aortic arch... ORPHA:163979
Macs Syndrome
Bruising susceptibility, Aortic aneurysm, Umbilical hernia, Fatigue, Bronchiectasis, Dilation of ... OMIM:613075
Superficial Siderosis
Subarachnoid hemorrhage, Arteriovenous malformation, Persistent bleeding after trauma, Internal h... ORPHA:247245
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Dyspnea, Hypertension, Pulmonary embolism, Fatigue, Respiratory tract infection, Abdominal pain, ... ORPHA:567546
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Exercise intolerance, Subependymal nodules, Subdural hemorrhage ORPHA:25
Zygomycosis
Myocarditis, Atelectasis, Abdominal pain, Pneumothorax, Epistaxis, Pain, Fatigue, Sinusitis, Hema... ORPHA:73263
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Polymicrogyria, Antenatal intracerebral hemorrhage, Respiratory in... OMIM:608836
Fabry Disease
Dyspnea, Mitral regurgitation, Chronic pulmonary obstruction, Respiratory insufficiency, Telangie... ORPHA:324
Familial Cold Urticaria
Myalgia, Arthralgia, Fatigue, Abdominal pain ORPHA:47045
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue OMIM:614831
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Tachycardia, Syncope, Renal artery stenosis, Fatigue, Abdominal ... ORPHA:71273
Poliomyelitis
Pain, Hypovolemic shock, Hypotension, Hypertension, Impairment of activities of daily living, Fat... ORPHA:2912
Paroxysmal Nocturnal Hemoglobinuria 2
Dyspnea, Arthralgia, Fatigue, Abdominal pain OMIM:615399
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bone pain, Chronic fatigue OMIM:610539
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue OMIM:618049
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Dyspnea, Syncope, Fatigue, Orthostatic syncope, Orthostatic hypotension, Rhinitis, ... ORPHA:230
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Pulmonary arterial hypertension, Tachypnea, Thoracic aortic aneurysm... OMIM:613834
Post-Traumatic Pituitary Deficiency
Fatigue, Hypotension ORPHA:95619
Hypotonia-Cystinuria Syndrome
Fatigue ORPHA:163690
Abnormal Hair, Joint Laxity, And Developmental Delay
Snoring, Lower limb pain, Mitral regurgitation, Fatigue, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Stevens-Johnson Syndrome
Recurrent respiratory infections, Dyspnea, Restrictive ventilatory defect, Cough, Abnormal pleura... ORPHA:36426
Cardiac-Valvular Ehlers-Danlos Syndrome
Dyspnea, Mitral regurgitation, Aortic root aneurysm, Bruising susceptibility, Fatigue, Aortic reg... ORPHA:230851
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Bone pain, Fatigue ORPHA:324964
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue, Bruising susceptibility ORPHA:98791
Glucocorticoid Resistance, Generalized
Hypertension, Fatigue OMIM:615962
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic aortic arch, Tricuspid regurgitation, Paroxysmal dyspnea, Respiratory failure requiri... ORPHA:99125
Arachnoid Cyst
Encephalocele, Subarachnoid hemorrhage, Lower limb pain, Neoplasm, Urinary incontinence, Abdomina... ORPHA:2356
Dopa-Responsive Dystonia
Pain, Urinary incontinence, Fatigue ORPHA:255
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Familial Cold Autoinflammatory Syndrome 1
Chills, Myalgia, Fatigue, Arthralgia OMIM:120100
Nelson Syndrome
Ocular pain, Pituitary corticotropic cell adenoma, Intracranial hemorrhage, Hypertension, Pituita... ORPHA:199244
Overhydrated Hereditary Stomatocytosis
Pulmonary embolism, Fatigue OMIM:185000
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue ORPHA:171612
Behçet Disease
Vasculitis, Pleuritis, Mitral regurgitation, Pulmonary embolism, Fatigue, Abdominal pain, Aortic ... ORPHA:117
Lead Poisoning
Abnormal respiratory system physiology, Hypertension, Impairment of activities of daily living, F... ORPHA:330015
Alveolar Echinococcosis
Epigastric pain, Low back pain, Dyspnea, Cough, Fatigue, Abdominal pain, Portal hypertension, Pul... ORPHA:284
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Fatigue, Abdominal pain ORPHA:65682
Hennekam-Beemer Syndrome
Hypotension, Respiratory insufficiency, Arrhythmia, Fatigue, Abdominal pain, Pneumonia, Telangiec... ORPHA:2135
Ileal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Episodic abdominal pain, Right ventricular failure, Palpitations,... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Pulmonic stenosis, Episodic abdominal pain, Right ventricular failure, Palpitations,... ORPHA:100077
Hepatocellular Carcinoma
Venous insufficiency, Epigastric pain, Neoplasm, Constitutional symptom, Hypotension, Dyspnea, Bo... ORPHA:88673
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Myotonia Fluctuans
Stridor, Myalgia, Fatigue, Apnea ORPHA:99734
Autoimmune Hepatitis
Hepatocellular carcinoma, Chronic fatigue, Abdominal pain, Spider hemangioma, Gastrointestinal he... ORPHA:2137
Congenital Isolated Acth Deficiency
Fatigue, Hypotension ORPHA:199296
Tarp Syndrome
Subdural hemorrhage, Neonatal death, Tetralogy of Fallot OMIM:311900
Gaisböck Syndrome
Stroke, Epigastric pain, Dyspnea, Elevated diastolic blood pressure, Hypertension, Fatigue, Angin... ORPHA:90041
Amyotrophic Lateral Sclerosis
Pain, Dyspnea, Abnormal respiratory system physiology, Fatigue, Respiratory failure ORPHA:803
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Fatigue OMIM:615954
Mal De Débarquement
Fatigue ORPHA:210272
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Intracranial hemorrhage, Hypertension ORPHA:90795
Familial Cerebral Cavernous Malformation
Hemangioma, Neuroma, Cerebral hemorrhage, Meningioma, Choroidal hemangioma, Venous malformation ORPHA:221061
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Restrictive ventilatory defect, Cough, Abnormal pleura morpholo... ORPHA:537
Meningioma
Trigeminal neuralgia, Ear pain, Intracranial meningioma, Abnormality on pulmonary function testin... ORPHA:2495
Immunodeficiency 58
Recurrent respiratory infections, Verrucae, Chronic pulmonary obstruction, Chronic bronchitis, Fa... OMIM:618131
Cinca Syndrome
Purpura, Myalgia, Fatigue, Arthralgia ORPHA:1451
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Cardiomyopathy, Exercise intolerance, Fatigue OMIM:617713
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Mandibular pain, Bone pain, Shortened QT interval, Fatigue, Fibroma, Pancreatic ... ORPHA:99880
Erdheim-Chester Disease
Dyspnea, Cough, Bone pain, Fatigue, Abdominal pain, Pulmonary fibrosis, Congestive heart failure,... ORPHA:35687
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Myalgia, Congestive heart failure, Fatigue, Cardiomyopathy OMIM:619259
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Patent ductus arteriosus OMIM:617061
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Mandibular pain, Bone pain, Shortened QT interval, Fatigu... ORPHA:143
Glioblastoma
Glioblastoma multiforme, Fatigue ORPHA:360
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Bronchitis, Lymphoma, Chronic sinusitis, Recurrent lower respir... ORPHA:183675
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue OMIM:613157
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Selective Igm Deficiency
Raynaud phenomenon, Recurrent respiratory infections, Verrucae, Chronic sinusitis, Chronic fatigu... ORPHA:331235
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Fatigue, Exertional dyspnea ORPHA:514
Secondary Intestinal Lymphangiectasia
Lymphoma, Fatigue, Abdominal colic, B-cell lymphoma, Intestinal bleeding, Right ventricular failu... ORPHA:90363
Acute Adrenal Insufficiency
Stroke, Hypotension, Fatigue, Abdominal pain, Recurrent acute respiratory tract infection, Arthra... ORPHA:95409
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Increased DLCO, Reticular pattern on pulm... OMIM:233450
Listeriosis
Myocarditis, Stroke, Fatigue, Abdominal pain, Respiratory distress, Congestive heart failure, Chi... ORPHA:533
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Hepatocellular adenoma, Cardiomyopathy, Exercise intolerance, Fatigue, ... ORPHA:370
Nocardiosis
Ocular pain, Pleuritis, Dyspnea, Productive cough, Nonproductive cough, Night sweats, Fatigue, Re... ORPHA:31204
Primary Sjögren Syndrome
Raynaud phenomenon, Bronchitis, Vasculitis, Lymphoma, Lymphoproliferative disorder, Usual interst... ORPHA:289390
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Hypotension, Arrhythmia, Urinary incontinence, Hypertension, Rigors, Fatigu... ORPHA:94093
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stroke, Pulmonary arterial hypertension, Subdural hemorrhage, Pulmonary embolism, Respiratory dis... ORPHA:79282
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Myalgia, Chronic fatigue, Recurrent sinusitis OMIM:618849
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Fatigue ORPHA:263455
Hutchinson-Gilford Progeria Syndrome
Raynaud phenomenon, Hip pain, Pulmonary arterial hypertension, Stroke, Mitral regurgitation, Caro... ORPHA:740
Loeys-Dietz Syndrome 3
Arterial tortuosity, Tortuous cerebral arteries, Pneumothorax, Atrial fibrillation, Subarachnoid ... OMIM:613795
Congenital Analbuminemia
Low pulse pressure, Recurrent lower respiratory tract infections, Fatigue ORPHA:86816
Acute Liver Failure
Prolonged prothrombin time, Abnormal respiratory system physiology, Hypotension, Bruising suscept... ORPHA:90062
Cyclic Neutropenia
Bone pain, Fatigue, Respiratory tract infection, Abdominal pain, Sinusitis ORPHA:2686
Eosinophilic Fasciitis
Myalgia, Fatigue, Arthralgia ORPHA:3165
Kawasaki Disease
Myocarditis, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defec... ORPHA:2331
Cystinosis
Portal hypertension, Fatigue ORPHA:213
Shigellosis
Myocarditis, Hypovolemic shock, Fatigue, Abdominal pain, Purpura, Pneumonia, Asthenia, Abdominal ... ORPHA:810
Aregenerative Anemia
Dyspnea, Fatigue, Bruising susceptibility, Abnormal bleeding ORPHA:101096
Castleman Disease
Dyspnea, Constitutional symptom, Cough, Fatigue, Abdominal pain, Restrictive cardiomyopathy, Flan... ORPHA:160
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage, Neonatal death OMIM:619055
Tuberous Sclerosis Complex
Subependymal nodules, Respiratory failure, Retinal hamartoma, Angiofibromas, Renal angiomyolipoma... ORPHA:805
Igg4-Related Retroperitoneal Fibrosis
Pain, Low back pain, Large vessel vasculitis, Hypertension, Fatigue, Abdominal pain, Renovascular... ORPHA:49041
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Bradypnea, Fatigue, Myelopathy, Respiratory failure OMIM:617186
Cystic Echinococcosis
Epigastric pain, Fatigue, Pulmonary cyst, Abnormal subpleural morphology, Multiple pulmonary cyst... ORPHA:400
Herpes Simplex Virus Encephalitis
Chills, Fatigue, Respiratory failure requiring assisted ventilation ORPHA:1930
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Bruising susceptibility, Subdural hemorrhage, Aortic aneurysm... ORPHA:536545
Hyperprolinemia Type 2
Myalgia, Chronic fatigue, Exercise intolerance, Abdominal pain ORPHA:79101
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Bronchiolitis obliterans organizing pneumonia, Foam cells, Fa... OMIM:619802
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Hypertrophic cardiomyopathy OMIM:607426
Osteopetrosis, Autosomal Dominant 3
Asthenia, Fatigue OMIM:618107
Pituicytoma
Fatigue ORPHA:251623
Vipoma
Benign gastrointestinal tract tumors, Hematochezia, Adrenocortical adenoma, Neoplasm of the liver... ORPHA:97282
Becker Muscular Dystrophy
Myalgia, Exercise intolerance, Fatigue ORPHA:98895
Brain Dopamine-Serotonin Vesicular Transport Disease
Stridor, Fatigue ORPHA:352649
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Prolonged prothrombin time, Hypotension, Fatigue, Apnea, Dilated cardiomyopathy, ... ORPHA:20
Glycogen Storage Disease Ixa1
Fatigue OMIM:306000
Chikungunya
Raynaud phenomenon, Gingival bleeding, Epistaxis, Shoulder pain, Fatigue, Chills, Arthralgia, Abn... ORPHA:324625
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cardiomyopathy, Exercise intolerance, Fatigue, Myalgia ORPHA:264580
Pediatric Hepatocellular Carcinoma
Epigastric pain, Fatigue, Abdominal pain ORPHA:33402
Pituitary Apoplexy
Trigeminal neuralgia, Hypotension, Hypertension, Fatigue, Pituitary adenoma ORPHA:95613
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia ORPHA:254704
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Respiratory insufficiency, Arrhythmia, Palpitations, ... ORPHA:254892
Cold Agglutinin Disease
Fatigue, Arthralgia, Back pain ORPHA:56425
Phace Syndrome
Coarctation of aorta, Aortic root aneurysm, Tetralogy of Fallot, Abnormal carotid artery morpholo... ORPHA:42775
Coccidioidomycosis
Vasculitis, Cough, Fatigue, Vasospasm, Respiratory distress, Pleural empyema, Cerebral ischemia, ... ORPHA:228123
Brucellosis
Myocarditis, Bronchitis, Pulmonary granulomatosis, Lung abscess, Pleural effusion, Fatigue, Abdom... ORPHA:1304
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue OMIM:274300
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sleep apnea, Encopresis, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Recurrent lower respiratory tract infections, Abdominal pain, Arthralgia, Int... OMIM:226300
Late-Onset Isolated Acth Deficiency
Hypotension, Fatigue, Abdominal pain, Arthralgia, Orthostatic hypotension, Pituitary adenoma ORPHA:199299
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Thoracic aortic aneurysm, Chronic fatigue, Varicose veins, Carotid art... OMIM:619656
Gitelman Syndrome
Ventricular tachycardia, Hypotension, Palpitations, Fatigue, Abdominal pain, Arthralgia, Prolonge... OMIM:263800
Primary Sclerosing Cholangitis
Hepatocellular carcinoma, Prolonged prothrombin time, Fatigue, Abdominal pain, Dilated superficia... ORPHA:171
Xeroderma Pigmentosum
Neoplasm, Melanoma, Papilloma, Fatigue, Telangiectasia, Arthralgia, Telangiectasia of the skin, N... ORPHA:910
Gaucher Disease Type 3
Recurrent respiratory infections, Pulmonary arterial hypertension, Bone pain, Fatigue, Abnormal p... ORPHA:77261
Inhalational Botulism
Dyspnea, Fatigue ORPHA:254504
Papa Syndrome
Fatigue, Arthralgia ORPHA:69126
Osteogenesis Imperfecta
Trigeminal neuralgia, Neonatal respiratory distress, Aortic root aneurysm, Bruising susceptibilit... ORPHA:666
Muckle-Wells Syndrome
Myalgia, Chronic fatigue, Arthralgia OMIM:191900
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Low back pain, Fatigue, Acute myeloid leukemia ORPHA:86843
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Somatostatinoma
Adrenocortical adenoma, Neoplasm of the pancreas, Chronic fatigue, Medullary thyroid carcinoma, G... ORPHA:97283
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Fatigue, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infe... ORPHA:293978
Autosomal Dominant Optic Atrophy, Classic Form
Myalgia, Fatigue ORPHA:98673
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
New-Onset Refractory Status Epilepticus
Fatigue ORPHA:363558
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Neoplasm of the tongue, Fatigue ORPHA:100026
Intellectual Developmental Disorder, Autosomal Dominant 35
Fatigue OMIM:616355
Japanese Encephalitis
Rigors, Fatigue, Abdominal pain, Irregular respiration, Respiratory distress, Pulmonary edema, Ch... ORPHA:79139
Cockayne Syndrome Type 3
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premat... ORPHA:90324
Dubin-Johnson Syndrome
Fatigue, Abdominal pain ORPHA:234
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Osteoma, Rib exostoses, Internal carotid artery dissection, Sca... OMIM:150230
Fixed Drug Eruption
Chills, Fatigue ORPHA:293812
Angiostrongyliasis
Pain, Neck pain, Fatigue, Abdominal pain, Arthralgia, Myalgia ORPHA:74
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Fatigue ORPHA:98808
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Tachypnea, Hypotension, Sinus tachycardia, Abnormal pulse pressure, Fatigue, ST ... ORPHA:466650
Arachnoiditis
Fatigue, Arthralgia ORPHA:137817
Dpagt1-Cdg
Pulmonary hypoplasia, Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Steinert Myotonic Dystrophy
Prolonged QRS complex, Respiratory insufficiency due to muscle weakness, Respiratory failure, Res... ORPHA:273
Satoyoshi Syndrome
Fatigue OMIM:600705
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pleuritis, Dyspnea, Hypertension, Fatigue, Abdominal pain, Respiratory tract infecti... ORPHA:544482
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Hypotension, Episodic abdominal pain, Chronic fatigue, Leydig cell... ORPHA:361
Creatine Phosphokinase, Elevated Serum
Myalgia, Fatigue OMIM:123320
Acute Transverse Myelitis
Subarachnoid hemorrhage, Urinary incontinence, Hypertension, Fatigue, Orthostatic hypotension, Ba... ORPHA:139417
Familial Pancreatic Carcinoma
Melanoma, Neoplasm of the liver, Colon cancer, Breast carcinoma, Chronic fatigue, Abdominal pain,... ORPHA:1333
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Arterial tortuosity, Tortuous cere... OMIM:619472
Sturge-Weber Syndrome
Stroke, Abnormal cerebral vascular morphology, Pulmonary embolism, Capillary hemangioma, Visceral... ORPHA:3205
Kikuchi-Fujimoto Disease
Myocarditis, Vasculitis, Pleural effusion, Night sweats, Fatigue, Chills, Arthralgia, Vasculitis ... ORPHA:50918
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension, Abdominal pain, Episodic fatigue ORPHA:3202
Klatskin Tumor
Fatigue, Abdominal pain, Cholangiocarcinoma ORPHA:99978
Gaucher Disease
Pulmonary arterial hypertension, Gingival bleeding, Respiratory insufficiency, Bone pain, Fatigue... ORPHA:355
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Pulmonary embolism, Abdominal pain ORPHA:567548
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Chronic Myeloid Leukemia
Myeloproliferative disorder, Fatigue ORPHA:521
Angioosteohypertrophic Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Cavernous hemangioma, Bone pain, Pulmonar... ORPHA:2346
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal cerebral artery morphology, Dilatation of the ventri... ORPHA:2177
Koolen-De Vries Syndrome Due To A Point Mutation
Hemangioma, Recurrent respiratory infections, Tracheomalacia, Melanoma, Pulmonic stenosis, Spina ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hemangioma, Recurrent respiratory infections, Tracheomalacia, Melanoma, Pulmonic stenosis, Spina ... ORPHA:363958
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Fatigue OMIM:613077
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage OMIM:613603
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Hepatocellular adenoma, Exercise intolerance, Fatigue, Myalgia ORPHA:79240
Primary Biliary Cholangitis
Hepatocellular carcinoma, Portal hypertension, Fatigue, Orthostatic hypotension ORPHA:186
Ehlers-Danlos Syndrome, Vascular Type
Repeated pneumothoraces, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Descending aortic ... OMIM:130050
Classical Ehlers-Danlos Syndrome
Mitral regurgitation, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Fatigue, A... ORPHA:287
Atypical Juvenile Parkinsonism
Fatigue ORPHA:391411
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Autosomal Dominant Hypophosphatemic Rickets
Bone pain, Fatigue ORPHA:89937
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Fatigue, Back pain OMIM:619234
Lymphatic Filariasis
Pain, Restrictive ventilatory defect, Cough, Fatigue, Lymphangiectasis, Abnormal lung morphology,... ORPHA:2035
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Umbilical hernia, Fatigue ORPHA:90674
Osteogenesis Imperfecta, Type Xvii