Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Internal Carotid Artery, Spontaneous Dissection Of |
|
Extracranial internal carotid artery dissection |
OMIM:147820 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Arterial Dissection With Lentiginosis |
|
Arterial dissection, Cystic medial necrosis |
OMIM:600459 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Pneumocystis carinii pneumon... |
OMIM:620321 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... |
ORPHA:2688 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmunity, Autoimmune thromb... |
OMIM:614470 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Sepsis, Antine... |
ORPHA:464370 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Neutropenia, Sepsis, Decreased circ... |
OMIM:616740 |
Immunodeficiency 102 |
|
Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Partial a... |
OMIM:301082 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Chro... |
OMIM:615592 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... |
OMIM:616871 |
Hypercholesterolemia, Familial, 4 |
|
Atherosclerosis |
OMIM:603813 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618666 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Recurrent pneumon... |
OMIM:615122 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis |
ORPHA:36237 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... |
ORPHA:47612 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... |
OMIM:226990 |
Hypertriglyceridemia 1 |
|
Precocious atherosclerosis |
OMIM:145750 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopeni... |
ORPHA:443811 |
Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Subarachnoid hemorrhage, Severe infection, Vasculitis, Arteriosclerosis, Stroke, Ar... |
ORPHA:494424 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-marrow foam cel... |
OMIM:607616 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Type IV atherosclerotic lesion |
OMIM:144300 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Foam cells |
OMIM:269600 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Atherosclerosis |
ORPHA:2724 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis |
ORPHA:79506 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo... |
ORPHA:47 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial in... |
ORPHA:169090 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... |
OMIM:609529 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... |
OMIM:266265 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Severe infection, Rec... |
ORPHA:2686 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... |
OMIM:618935 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, BCGosis, Recurre... |
OMIM:619644 |
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus, Recurrent i... |
OMIM:613652 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... |
OMIM:612840 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis |
OMIM:216950 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Sepsis, Iron deficiency anemia, Tubulointe... |
ORPHA:37042 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:608320 |
Omenn Syndrome |
|
Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosis, Sepsis, Thyroiditis, Erythrode... |
ORPHA:39041 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233710 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis |
OMIM:620058 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Patent... |
OMIM:612541 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Increased... |
OMIM:256500 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Foam cells |
OMIM:245900 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233690 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Recurrent opportunistic infections... |
ORPHA:277 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:602450 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, I... |
OMIM:301000 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Impaired T cell function, Autoimmunity, Minimal change glomerulonephri... |
ORPHA:1830 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Autoimm... |
OMIM:615559 |
Apolipoprotein A-I Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:425 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, S... |
ORPHA:379 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Sepsis, Increased circulating ... |
ORPHA:36234 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Meningitis, Leukocytosis, Thrombocytopenia, Myocarditi... |
ORPHA:292 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... |
ORPHA:169079 |
Panbronchiolitis, Diffuse |
|
Foam cells |
OMIM:604809 |
Galactose Mutarotase Deficiency |
|
Sepsis |
ORPHA:570422 |
Melioidosis |
|
Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Foot osteomyelitis, Pneumonia... |
ORPHA:31202 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Fish-Eye Disease |
|
Atherosclerosis |
ORPHA:79292 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis |
OMIM:260570 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurr... |
OMIM:240500 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Atherosclerosis |
OMIM:610842 |
Lcat Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Recurrent infections |
ORPHA:764 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Skin rash, Sepsis, Thrombocytopenia |
ORPHA:49566 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Psoriasiform dermatitis, Recurrent viral infections, Autoimmune thrombo... |
ORPHA:293978 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Sepsis, Recurrent infections |
ORPHA:204 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ... |
ORPHA:397596 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Coronary artery atherosclerosis |
OMIM:618620 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:306400 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-marrow foam cel... |
OMIM:257200 |
Immunodeficiency 25 |
|
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Rec... |
OMIM:610163 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Leukocytosis, Severe infection, Sepsis, Acute infectious pneumonia, Leuk... |
ORPHA:36238 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Asplenia, Sepsis, Coombs-positive hemolytic anemia, Thrombocytosis, Nephritis |
OMIM:614034 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... |
OMIM:619375 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A... |
OMIM:617780 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenitis, Pus... |
ORPHA:31205 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis, Vasculitis, Sepsis |
ORPHA:70578 |
Gm1-Gangliosidosis, Type Iii |
|
Foam cells |
OMIM:230650 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Severe varicella zos... |
OMIM:615387 |
Generalized Pustular Psoriasis |
|
Pustule, Leukocytosis, Sepsis, Uveitis, Cheilitis, Arthritis, Palmoplantar pustulosis, Erythroder... |
ORPHA:247353 |
Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis |
OMIM:616833 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Thoracic aortic aneurysm, Autoimmunity, Increased circulating Ig... |
ORPHA:449400 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Recurrent pharyngitis, Myocarditis, Sepsis, Hepatitis, Endocarditis, ... |
ORPHA:549 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Thrombocytopenia, Recurr... |
OMIM:617303 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Thrombocytopenia, Patent ductus arteriosus, Sepsis, Intracran... |
OMIM:617053 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
Alg1-Cdg |
|
Sepsis, Recurrent infections |
ORPHA:79327 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Sepsis, Hepatitis, Leukopenia, Increased circulating... |
ORPHA:319218 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper respiratory trac... |
OMIM:616005 |
Hutchinson-Gilford Progeria Syndrome |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
OMIM:176670 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Acute infectious pneumonia, Foam cells, Autoimmune antibody positivity |
ORPHA:264675 |
Cholesteryl Ester Storage Disease |
|
Arteriosclerosis |
ORPHA:75234 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Premature coronary artery atherosclerosis |
OMIM:610947 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Avian Influenza |
|
Pneumonia, Sepsis, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Lymphopenia, Meningitis, Infe... |
ORPHA:454836 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Autoimmunity, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobac... |
ORPHA:98813 |
Tangier Disease |
|
Coronary artery atherosclerosis, Atherosclerosis |
OMIM:205400 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode |
ORPHA:199354 |
Lamellar Ichthyosis |
|
Chronic otitis media, Recurrent respiratory infections, Sepsis, Erythroderma |
ORPHA:313 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis |
OMIM:619059 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Premature coronary artery atherosclerosis |
ORPHA:140905 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Type IV atherosclerotic lesion, Peripheral arterial stenosis, Aortic... |
ORPHA:412 |
Radiation Proctitis |
|
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Sepsis, Rectal absce... |
ORPHA:70475 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... |
ORPHA:811 |
Calciphylaxis |
|
Arterial calcification, Sepsis |
ORPHA:280062 |
Cog4-Cdg |
|
Neonatal sepsis, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent infe... |
ORPHA:263501 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis |
ORPHA:1192 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Sepsis, Atherosclerosis |
ORPHA:95427 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Thrombocytopenia, Abnorma... |
OMIM:242900 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Coronary artery atherosclerosis, Pancreatitis, Atherosclerosis |
ORPHA:2348 |
Flynn-Aird Syndrome |
|
Atherosclerosis |
ORPHA:2047 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Prominent veins on trunk, Coronary artery atherosclerosis, Pancreatitis, Atheroscle... |
ORPHA:79083 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Precocious atherosclerosis |
ORPHA:230839 |
Acatalasemia |
|
Arteriosclerosis, Severe periodontitis, Microcytic anemia |
ORPHA:926 |
Meningococcal Meningitis |
|
Skin rash, Stroke, Infectious encephalitis, Sepsis |
ORPHA:33475 |
Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Sepsis |
ORPHA:79239 |
Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis |
ORPHA:209902 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Hirschsprung Disease |
|
Sepsis |
ORPHA:388 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Sepsis, Nephritis, In... |
ORPHA:2552 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
Acute Lung Injury |
|
Pneumonia, Acute pancreatitis, Sepsis |
ORPHA:178320 |
Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
Shigellosis |
|
Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Sepsis, Uveitis, Ulcer... |
ORPHA:810 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Antineut... |
OMIM:301078 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Sepsis |
ORPHA:70587 |
Niemann-Pick Disease, Type C1 |
|
CNS foam cells, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Foam cells |
OMIM:257220 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Cryptococcosis |
|
Lymphoid leukemia, Osteomyelitis, Pneumonia, Autoimmunity, Meningitis, Peritonitis, Sepsis, Syste... |
ORPHA:1546 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Coronary artery atherosclerosis |
ORPHA:79084 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Desmoid Tumor |
|
Sepsis |
ORPHA:873 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thrombocytopenia,... |
OMIM:613011 |
Alstrom Syndrome |
|
Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Otitis media, Nephri... |
OMIM:203800 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
Alg12-Cdg |
|
Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating IgA level, Parti... |
ORPHA:79324 |
Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis |
OMIM:615703 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Autoimmunity, Sepsis, Hepatitis, Hashimoto th... |
ORPHA:199299 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stroke, Anemia, Atherosclerosis |
ORPHA:93598 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Punctate vasculitis skin lesions, Sepsis, Normochromic a... |
ORPHA:247691 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Atherosclerosis |
ORPHA:1979 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Sepsis |
OMIM:614886 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Precocious atherosclerosis, Splenomegaly, Coronary artery atheroscle... |
ORPHA:280365 |
Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis, Sepsis |
ORPHA:99824 |
Autoimmune Hypoparathyroidism |
|
Autoimmunity, Autoimmune antibody positivity, Chronic mucocutaneous candidiasis, Conjunctivitis, ... |
ORPHA:36913 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... |
ORPHA:760 |
Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Meningitis, Seve... |
ORPHA:31204 |
Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta |
OMIM:208060 |
Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Coronary artery atherosclerosis |
OMIM:608600 |
Niemann-Pick Disease, Type C2 |
|
CNS foam cells, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Foam cells |
OMIM:607625 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Pseudoxanthoma Elasticum |
|
Skin rash, Acne, Abnormal cerebral vascular morphology, Arterial stenosis, Vascular dilatation, A... |
ORPHA:758 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Disseminated viral infection, Thrombocytopenia, Severe infection, Leukocytosis, ... |
ORPHA:90051 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... |
ORPHA:391665 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Sepsis, Hepatosplen... |
ORPHA:505248 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Ischemic stroke, Coronary artery atherosclerosis, Moyamoya phenomenon |
ORPHA:280679 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infectio... |
OMIM:615758 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Sepsis, Conjuncti... |
ORPHA:36426 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper r... |
OMIM:615952 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Severe infection, Sepsis |
ORPHA:505395 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Sepsis, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thro... |
ORPHA:537 |
Sitosterolemia 1 |
|
Reticulocytosis, Coronary artery atherosclerosis, Carotid artery stenosis, Thrombocytopenia, Sple... |
OMIM:210250 |
Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hepatic foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepato... |
OMIM:278000 |
Werner Syndrome |
|
Pulmonary artery stenosis, Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:902 |
Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... |
ORPHA:100026 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Autoimmunity, Eczema, Recurrent infections |
ORPHA:703 |
Gapo Syndrome |
|
Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:2067 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Stroke, Coronary artery atherosclerosis |
OMIM:264800 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Sepsis, Decreased circulating antibody level, Recurrent infections, An... |
ORPHA:79396 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Hypersplenism, Leukocytosis, Sepsis, Leukopenia, Pancreatitis, Thromb... |
ORPHA:480520 |
Farber Disease |
|
CNS foam cells, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Anemia, Arthrit... |
ORPHA:333 |
Menkes Disease |
|
Osteomyelitis, Venous insufficiency, Sepsis, Arterial stenosis, Intracranial hemorrhage, Abnormal... |
ORPHA:565 |
Currarino Syndrome |
|
Perianal abscess, Recurrent urinary tract infections, Sepsis, Vascular dilatation |
OMIM:176450 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Recurrent infe... |
ORPHA:88 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Foam cells, Autoimmune antibody positivity |
ORPHA:747 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Autoimmunity, Hypersplenism, Anti-thyroid peroxidase antibody positivi... |
ORPHA:228426 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Sepsis, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
Tangier Disease |
|
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Anemia, Coronary artery... |
ORPHA:31150 |
Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia |
ORPHA:529799 |
Alkaptonuria |
|
Coronary artery calcification, Osteoarthritis, Arthritis, Prostatitis, Atherosclerosis |
ORPHA:56 |
Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Premature coronary artery atherosclerosis, Stroke-like episode, Right aortic... |
OMIM:300845 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Hypersplenism, Vacuolated lymphocytes, Hepato... |
ORPHA:275761 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Atherosclerosis |
OMIM:614008 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Sepsis, Enterocolitis, End... |
ORPHA:707 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Precocious atherosclerosis, Perianal abscess, Hepatosplenomegaly, Recurrent p... |
ORPHA:444490 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Splenomegaly, Sepsis, Polysplenia, Anemia |
OMIM:619418 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis |
OMIM:619362 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoim... |
ORPHA:227990 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Lipodystrophy, Familial Partial, Type 2 |
|
Acute pancreatitis, Prominent superficial veins, Atherosclerosis |
OMIM:151660 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoim... |
ORPHA:227982 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Sepsis, Gastrointestina... |
ORPHA:79404 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Sepsis |
ORPHA:158668 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Sepsis, ... |
ORPHA:95455 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Splenomegaly, Peritonit... |
OMIM:619991 |
Cockayne Syndrome |
|
Splenomegaly, Keratoconjunctivitis sicca, Retinal arteriolar constriction, Malar rash, Vascular c... |
ORPHA:191 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Skin rash |
ORPHA:220295 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis |
ORPHA:2241 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Renal artery atherosc... |
ORPHA:565612 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Peripheral arterial stenosis, ... |
ORPHA:90041 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Premature arteriosclerosis |
OMIM:277700 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Pneumonia |
ORPHA:90790 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Coronary artery atherosclerosis |
ORPHA:435638 |
Ctcf-Related Neurodevelopmental Disorder |
|
Patent ductus arteriosus, Sepsis, Coarctation of aorta, Recurrent infections, Recurrent lower res... |
ORPHA:363611 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the ... |
ORPHA:363618 |
Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Increased mean platelet volume, Acanthocytosis, Schist... |
OMIM:607330 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary artery atheroscle... |
OMIM:615947 |
Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:909 |
Hutchinson-Gilford Progeria Syndrome |
|
Transient ischemic attack, Osteoarthritis, Intracranial hemorrhage, Stroke, Carotid artery occlus... |
ORPHA:740 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Foam cells |
ORPHA:646 |
Estrogen Resistance Syndrome |
|
Acne, Coronary artery atherosclerosis |
ORPHA:785 |
Aapoaiv Amyloidosis |
|
Paraproteinemia, Coronary artery atherosclerosis |
ORPHA:439232 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Vascular tortuosity, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia |
ORPHA:99646 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic lupus erythematosus, Cherry re... |
ORPHA:77293 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Abnormal cerebral vascular morphology, Peripheral arterial stenosis,... |
ORPHA:79474 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia |
ORPHA:2135 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Coronary artery stenosis, Abnormal coronary artery morpholo... |
ORPHA:66529 |
Cockayne Syndrome Type 3 |
|
Splenomegaly, Subdural hemorrhage, Keratoconjunctivitis sicca, Aortic root aneurysm, Stroke, Vasc... |
ORPHA:90324 |
Pmm2-Cdg |
|
Intracranial hemorrhage, Pericarditis, Aspiration pneumonia, Impaired neutrophil chemotaxis |
ORPHA:79318 |
Myeloperoxidase Deficiency |
|
|
OMIM:254600 |
Alzheimer Disease, Familial, 1 |
|
|
OMIM:104300 |