Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent... |
OMIM:613501 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections |
OMIM:614868 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Recurrent ... |
OMIM:613953 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... |
OMIM:605258 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Vasculitis in t... |
ORPHA:319552 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613494 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... |
OMIM:613500 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent ... |
OMIM:613493 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... |
OMIM:608184 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:612692 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Immune Deficiency Disease |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:242850 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Cerebral vasculitis, Recurrent bacterial infections, Subarachnoid he... |
OMIM:243700 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
ORPHA:169079 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Recurrent fungal infections, Recurrent bacterial infections, Recu... |
OMIM:209920 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchitis, Recurrent ... |
OMIM:240500 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, R... |
OMIM:607594 |
Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Vasculitis, Re... |
OMIM:610984 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Helicobacter p... |
ORPHA:2688 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Thymic Aplasia |
|
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... |
ORPHA:83471 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... |
ORPHA:276 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent candida infections, Recurrent fungal infections, Recurr... |
ORPHA:572 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
Analbuminemia |
|
Recurrent lower respiratory tract infections, Hypotension |
OMIM:616000 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Systolic heart murmur, Transient ischemic attack, Bundle branch bloc... |
ORPHA:99103 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis, Hypotension |
ORPHA:99825 |
Immunodeficiency 21 |
|
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... |
OMIM:614172 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... |
ORPHA:911 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... |
ORPHA:169090 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... |
ORPHA:99104 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... |
OMIM:147060 |
Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... |
ORPHA:331235 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis media |
OMIM:617475 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Infant Acute Respiratory Distress Syndrome |
|
Sepsis, Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Epistaxis, Sepsis |
OMIM:612840 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... |
OMIM:307200 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... |
OMIM:116920 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Myocardial infarction, Recurrent Haemophilus influe... |
ORPHA:60033 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Pulmonary hemorrhage, Aortic regurgitation |
OMIM:603585 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent tonsillitis, Pulmonary tuberculosis, Severe infection, Sepsis, Recurrent urinary tract ... |
ORPHA:183675 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233710 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media,... |
OMIM:601495 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension, Sepsis |
ORPHA:247257 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233690 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent ear ... |
ORPHA:486 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Recurrent bacterial infections, Recurrent opportunistic infections, Recurren... |
OMIM:613179 |
Omenn Syndrome |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections |
OMIM:603554 |
Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Shock, Hypotension, Sepsis |
ORPHA:70578 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent lower res... |
OMIM:616005 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Recurrent respiratory infections, Hypotension |
OMIM:264350 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:618048 |
Vici Syndrome |
|
Recurrent fungal infections, Recurrent bacterial infections, Dilated cardiomyopathy, Chronic muco... |
OMIM:242840 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var... |
OMIM:606367 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Sepsis, Recurrent upper respiratory tract infections, Hypotension, Recurrent sinusitis, Recurrent... |
ORPHA:293978 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Recurrent fungal infections, Recurrent ba... |
ORPHA:331206 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic oral candidiasis, Sepsis, Recurrent bacterial infections, Enteroviral encephalitis, Recur... |
OMIM:308230 |
Postinfectious Vasculitis |
|
Recurrent candida infections, Recurrent mycobacterial infections, Recurrent streptococcus pneumon... |
ORPHA:48435 |
Immunodeficiency 23 |
|
Vasculitis in the skin, Severe varicella zoster infection, Recurrent staphylococcal infections, C... |
OMIM:615816 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Scrub Typhus |
|
Hypotension, Meningitis, Infectious encephalitis, Myocarditis |
ORPHA:83317 |
Meningococcal Meningitis |
|
Shock, Infectious encephalitis, Hypotension, Sepsis |
ORPHA:33475 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Small vessel vasculitis |
ORPHA:36412 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... |
OMIM:212138 |
Legionnaires Disease |
|
Sepsis, Arrhythmia, Hypotension, Myocarditis, Recurrent pharyngitis, Infectious encephalitis, Per... |
ORPHA:549 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:306400 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Bacterial Toxic-Shock Syndrome |
|
Severe infection, Sepsis, Tachycardia, Recurrent urinary tract infections, Hypotension, Myocardit... |
ORPHA:36234 |
Congenital Enterovirus Infection |
|
Sepsis, Hypotension, Myocarditis, Meningitis, Infectious encephalitis, Cardiomyopathy |
ORPHA:292 |
Sickle Cell Anemia |
|
Hypertension, Recurrent bacterial infections |
OMIM:603903 |
Staphylococcal Necrotizing Pneumonia |
|
Severe infection, Shock, Hypotension, Sepsis |
ORPHA:36238 |
Pgm3-Cdg |
|
Recurrent fungal infections, Vasculitis in the skin, Sepsis, Recurrent bacterial infections, Recu... |
ORPHA:443811 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Pulmonic stenosis, Mitral regurgitation, Sepsis, Recurrent urinary tract infections, Recurrent ba... |
OMIM:612541 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension |
ORPHA:79455 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Necrotizing Enterocolitis |
|
Shock, Neonatal sepsis, Hypotension, Bradycardia |
ORPHA:391673 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections, Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive ... |
OMIM:615895 |
Mirage Syndrome |
|
Recurrent bacterial infections, Intracranial hemorrhage, Recurrent urinary tract infections, Sepsis |
OMIM:617053 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... |
ORPHA:99147 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... |
ORPHA:542323 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556037 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Recurrent ... |
ORPHA:221139 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Hypotension |
OMIM:618480 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis m... |
OMIM:608233 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... |
ORPHA:100082 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension |
OMIM:263400 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension |
ORPHA:99828 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556030 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Recurrent bacterial infections |
ORPHA:2176 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent fungal infections, Recurrent bacterial infections, Chronic mucocutaneous candidiasis, R... |
OMIM:102700 |
Whipple Disease |
|
Hypotension, Myocarditis, Myocardial infarction, Infectious encephalitis, Gastrointestinal hemorr... |
ORPHA:3452 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent bacterial infections, Recurrent streptococcal infe... |
ORPHA:167 |
Sepsis In Premature Infants |
|
Severe infection, Tachycardia, Disseminated viral infection, Hypotension, Meningitis, Neonatal se... |
ORPHA:90051 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent fungal infections, Sepsis, Recurrent viral infections, Recurrent bacterial infections, ... |
OMIM:619573 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogenic shock, Hypotension,... |
ORPHA:97287 |
Familial Glucocorticoid Deficiency |
|
Recurrent infections, Hypertrophic cardiomyopathy, Recurrent urinary tract infections, Hypotension |
ORPHA:361 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pericarditis, Arrhythmia, Myocarditis |
ORPHA:188 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Recurrent systemic pyogenic infections, Recurrent bacterial ski... |
OMIM:214500 |
Whim Syndrome |
|
Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... |
ORPHA:51636 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media |
ORPHA:244 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
Glycogen Storage Disease Ib |
|
Hypertension, Recurrent bacterial infections |
OMIM:232220 |
Poliomyelitis |
|
Hypovolemic shock, Hypotension, Meningitis, Infectious encephalitis, Hypertension |
ORPHA:2912 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
Neuroendocrine Tumor Of Stomach |
|
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... |
ORPHA:100075 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypotension |
ORPHA:98850 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100077 |
Immunodeficiency 47 |
|
Recurrent infections, Recurrent bacterial infections, Tricuspid regurgitation |
OMIM:300972 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Neuroleptic Malignant Syndrome |
|
Sepsis, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertensi... |
ORPHA:94093 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension |
ORPHA:427 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Hematemesis, Severe infection, Palpitations, Tachycardia, Intracranial hemorrhage, Hypote... |
ORPHA:340 |
Congenital Hypothyroidism |
|
Hypertension, Arrhythmia, Hypotension |
ORPHA:442 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Colchicine Poisoning |
|
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure |
ORPHA:31824 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Ethylene Glycol Poisoning |
|
Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges... |
ORPHA:31826 |
Lujo Hemorrhagic Fever |
|
Hypotension, Myocarditis, Severe viral infection, Shock, Subconjunctival hemorrhage, Bradycardia |
ORPHA:319213 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Hypovolemia, Recurrent acute respiratory tract infection, Hypotension, M... |
ORPHA:95409 |
Mastocytosis |
|
Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Hypotension |
ORPHA:98292 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Sepsis, Hypotension |
ORPHA:199299 |
Duodenal Neuroendocrine Tumor |
|
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... |
ORPHA:100076 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent tonsillitis, Sepsis, Recurrent u... |
ORPHA:2968 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertension, Pulmonary venous hypertension, Recurrent bacterial infections, Epistaxis |
ORPHA:79259 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Hypotension |
ORPHA:2135 |
Alexander Disease |
|
Hypertension, Sudden cardiac death, Infectious encephalitis, Hypotension |
ORPHA:58 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Melena, Abnormal left ventricular function, Hemoperitoneum, Subdural hemorrh... |
ORPHA:99827 |
Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Sepsis, Recurrent bacterial infections |
ORPHA:811 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension |
ORPHA:134 |
Cholera |
|
Tachycardia, Hypotension, Hypovolemic shock |
ORPHA:173 |
Gitelman Syndrome |
|
Palpitations, Prolonged QT interval, Ventricular tachycardia, Hypotension |
OMIM:263800 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatic fi... |
ORPHA:699 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Marburg Hemorrhagic Fever |
|
Hypovolemia, Severe infection, Tachycardia, Hypotension, Shock, Internal hemorrhage, Subconjuncti... |
ORPHA:99826 |
Autosomal Dominant Hypocalcemia |
|
Arrhythmia, Hypotension, Congestive heart failure |
ORPHA:428 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension |
ORPHA:93256 |
Hellp Syndrome |
|
Internal hemorrhage, Cerebral hemorrhage, Hypotension |
ORPHA:244242 |
Leptospirosis |
|
Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Meningitis, Subconjunctival he... |
ORPHA:509 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension |
ORPHA:90791 |
Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Con... |
ORPHA:91347 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Sinus tachycardia, ... |
ORPHA:466650 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Palpitations, Hypotension, Heart murmur |
ORPHA:100079 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections |
ORPHA:470 |
Gitelman Syndrome |
|
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Prominent U wa... |
ORPHA:358 |
Plague |
|
Hematemesis, Sepsis, Tachycardia, Arrhythmia, Hypotension, Meningitis |
ORPHA:707 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension |
ORPHA:168558 |
Lysosomal Acid Lipase Deficiency |
|
Hypovolemia, Pulmonary arterial hypertension, Hypotension |
ORPHA:275761 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension |
ORPHA:289548 |
Hepatocellular Carcinoma |
|
Internal hemorrhage, Budd-Chiari syndrome, Portal hypertension, Hypotension |
ORPHA:88673 |
Addison Disease |
|
Orthostatic hypotension, Hypotension |
ORPHA:85138 |
Acute Liver Failure |
|
Intracranial hemorrhage, Gastrointestinal hemorrhage, Shock, Hypotension |
ORPHA:90062 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Recurrent Staphylococcus aureus infections,... |
ORPHA:642 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypovolemia, Shock, Hypotension |
ORPHA:90794 |
Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
Bartter Syndrome, Type 1, Antenatal |
|
Low-to-normal blood pressure |
OMIM:601678 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |
Bartter Syndrome, Type 2, Antenatal |
|
Low-to-normal blood pressure |
OMIM:241200 |
Amed Syndrome, Digenic |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |